Prenatal Diagnosis via MedWorm.com

A new methodology to preserve the original proportion and integrity of cell-free fetal DNA in maternal plasma during sample processing and storage

Prenatal Diagnosis — Fri, 19 Mar 2010 00:00:00 +0100

To develop a standardized blood collection device that preserves fetal cell-free DNA and minimizes the cell-free DNA background in maternal plasma.Blood samples were drawn from healthy pregnant donors into K3EDTA (BD vacutainer®) and Cell-free DNATM BCT tubes (Streck®, Inc.) and kept at ambient temperature. Plasma was separated by centrifugation and cell-free DNA was extracted. Cell-free DNA from plasma was quantified by quantitative real-time polymerase chain reaction.Blood drawn into Cell-free DNATM BCT tubes showed no change in the original proportion of fetal cell-free DNA during a 14-day storage period at ambient temperature. Conversely, maternal blood drawn into K3EDTA tubes showed a steady reduction in the original proportion of fetal cell-free DNA over the same time period. Using...

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred

Prenatal Diagnosis — Fri, 19 Mar 2010 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

The impact of rapid aneuploidy detection (RAD) in addition to karyotyping versus karyotyping on maternal quality of life

Prenatal Diagnosis — Fri, 19 Mar 2010 00:00:00 +0100

To assess the impact of rapid aneuploidy detection (RAD) combined with fetal karyotyping versus karyotyping only on maternal anxiety and health-related quality of life.Women choosing to undergo amniocentesis were selected into group 1, i.e. receiving a karyotype result only (n = 132) or to group 2, i.e. receiving both the result of RAD and karyotyping (n = 181).There were no systematic differences in time of RAD combined with karyotyping versus karyotyping only in terms of anxiety (P = 0.91), generic physical health (P = 0.76, P = 0.46), generic mental health (P = 0.52, P = 0.72), personal perceived control (P = 0.91) and stress (P = 0.13). RAD combined with karyotyping reduced anxiety and stress two weeks earlier compared to karyotyping only.RAD as add-on to karyotyping reduces anxiety an...

First trimester maternal serum placental growth factor in trisomy 21 pregnancies

Prenatal Diagnosis — Thu, 18 Mar 2010 00:00:00 +0100

To examine placental growth factor (PlGF) levels in first trimester maternal serum in trisomy 21 pregnancies and to investigate the potential value of PlGF in a first trimester screening test.First trimester maternal serum from 70 trisomy 21 cases and 375 euploid controls were retrospectively analyzed for PlGF using a DELFIA® Xpress immunoassay platform. Results were expressed as multiples of medians (MoM) for comparison.PlGF levels were significantly decreased in pregnancies with trisomy 21, 0.76 MoM versus 0.98 MoM in controls. Inclusion of PlGF into the first trimester combined test [maternal age, pregnancy associated plasma protein-A (PAPP-A), free-[beta] human chorionic gonadotrophin ([beta]-hCG) and nuchal translucency] would increase the detection rate by 0.5% at a 5% false positiv...

Successful photocoagulation on both sides of inter-twin membrane for twin-twin transfusion syndrome in a case of iatrogenic septostomy after an amnioreduction

Prenatal Diagnosis — Thu, 18 Mar 2010 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Mandibular dimensions and growth in 11- to 26-week-old Danish fetuses studied by 3D ultrasound

Prenatal Diagnosis — Thu, 18 Mar 2010 00:00:00 +0100

To present normative data on prenatal mandibular morphology and growth.Fifty-four normal fetuses (Danish Caucasian) were included in the study (gestational age: 11-26 weeks). Fetuses were scanned using a GE Voluson 730 Expert 3D scanner. Scans were visualized and analyzed using GE 4DVIEWTM software. Mandibular dimensions [base length (B), ramus height (H), and total length (L)] and the mandibular angle ([phiv]) were measured, and the mandibular index was calculated. Method error was estimated by duplicate measurements. Growth was calculated by regressing measured variables on age.Mandibular measurements were found to be reliable [precision: 0.5-1.2 mm (1SD)]. Mean mandibular variable values at week 11: B = 5.2 ± 2.5 mm; H = 2.7 ± 1.3 mm; L = 7.7 ± 3.2 mm; [phiv] = 149 ± 6.0°; and at w...

Distributions of current and new first-trimester Down syndrome screening markers in twin pregnancies

Prenatal Diagnosis — Thu, 18 Mar 2010 00:00:00 +0100

To study the distributions of pregnancy-associated plasma protein A (PAPP-A), the free [beta] subunit of human chorion gonadotrophin (f[beta]-hCG), A Disintegrin and Metalloprotease 12 (ADAM12) and Placental Protein 13 (PP13) in first trimester twin pregnancies.Serum marker concentrations were measured in monochorionic and dichorionic twin pregnancies and singleton controls to study differences in multiples of the gestation-specific normal medians (MoMs).Median PAPP-A and f[beta]-hCG MoMs were 2.03 and 1.87 for monochorionic twins (n = 116) and 2.18 and 1.89 for dichorionic twins (n = 650). Furthermore, ADAM12 and PP13 MoMs were 1.66 and 1.56 for monochorionic twins (n = 51) and 1.64 and 1.53 for dichorionic twins (n = 249). No statistically significant differences between monochorionic an...

Aortic isthmus Doppler velocimetry: role in assessment of preterm fetal growth restriction

Prenatal Diagnosis — Tue, 16 Mar 2010 00:00:00 +0100

Intrauterine fetal growth restriction (IUGR) is an important pregnancy complication associated with significant adverse clinical outcome, stillbirth, perinatal morbidity and cerebral palsy. To date, no uniformly accepted management protocol of Doppler surveillance that reduces mortality and cognitive morbidity has emerged. Aortic isthmus (AoI) evaluation has been proposed as a potential monitoring tool for IUGR fetuses. In this review, the current knowledge of the relationship between AoI Doppler velocimetry and preterm fetal growth restriction is reviewed. Relevant technical aspects and reproducibility data are reviewed as we discuss AoI Doppler and its place within the existing repertoire of Doppler assessments in placental insufficiency. The AoI is a link between the right and left vent...

Fetal MRI of the placenta in extreme early onset IUGR

Prenatal Diagnosis — Thu, 11 Mar 2010 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

High resolution DNA melting analysis: an application for prenatal control of [alpha]-thalassemia

Prenatal Diagnosis — Thu, 11 Mar 2010 00:00:00 +0100

To report the use of real-time gap-PCR using SYTO9 with high-resolution melting analysis (HRMA) in prenatal diagnosis of [alpha]-thalassemia 1.Real-time gap-PCR using SYTO9 with HRMA was performed in 33 DNA samples from chorionic villi sampling (8 normal, 16 heterozygous, and 9 homozygous) to determine the [alpha]-thalassemia 1 gene [normal and Southeast Asia (-SEA) allele].The dissociation curve analysis in normal and - SEA allele gave a peak of Tm at 91.80 ± 0.14 °C and 88.67 ± 0.08 °C, respectively. Normal genotype and homozygous [alpha]-thalassemia 1 showed a single peak of Tm that corresponded to their alleles. The heterozygotes gave both peaks with higher normal peak and smaller - SEA peak. Thirty one samples showed consistent results with the conventional gap-PCR. Two samples wi...

First-trimester serum marker distribution in singleton pregnancies conceived with assisted reproduction

Prenatal Diagnosis — Thu, 11 Mar 2010 00:00:00 +0100

To evaluate marker distribution of free [beta]-human chorionic gonadotrophin (f[beta]-hCG) and pregnancy-associated plasma protein-A (PAPP-A) in singleton pregnancies conceived by assisted reproduction techniques (ART).In vitro fertilization (IVF) (n = 203) and intracytoplasmic sperm injection (ICSI) (n = 192) cases from a database of 14 645 first-trimester combined tests (overall study group) were selected and matched to 1164 controls for gestational age at sample date and maternal age.In the IVF group and ICSI group, lnPAPP-A was lower (IVF 6.74 vs 7.08; P = 0.0001; ICSI 6.59 vs 7.07; P = 0.0001) compared with the matched controls. Lnf[beta]-hCG was lower in the IVF group (3.75 vs 3.90; P = 0.005) but not significantly different in the ICSI group (3.87 vs 3.93; P = 0.27). The computed co...

Left ventricle shortening fraction: a comparison between euploid and trisomy 21 fetuses in the first trimester

Prenatal Diagnosis — Wed, 10 Mar 2010 00:00:00 +0100

Measurement of the shortening fraction of the left ventricle (SFLV) is an objective way to assess systolic performance. The aim of the study was to compare first trimester SFLV values in euploid fetuses to those in fetuses with trisomy 21.We measured SFLV in 56 fetuses from 11 weeks to 13 weeks 6 days. The left ventricular diastolic diameter (LVDD) and left ventricular systolic diameter (LVSD) were measured offline, and SFLV was calculated. The data were analyzed using Mann-Whitney U test.We found a significant difference in the SFLV measurements between the group of 49 euploid fetuses and the 7 fetuses with trisomy 21 [38.00 (95% CI: 33.72-42.27) vs 49.93 (95% CI: 43.72-56.13)] (p < 0.05). There was also a significant difference in the nuchal translucency measurements between the two grou...

The Natural History of Anencephaly

Prenatal Diagnosis — Tue, 02 Mar 2010 00:00:00 +0100

This study provides useful information for health professionals caring for patients with a diagnosis of anencephaly. The majority of these infants die prior to delivery but short-term survival is possible. Copyright © 2010 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

A successful pregnancy following transcervical CVS related GBS sepsis

Prenatal Diagnosis — Fri, 26 Feb 2010 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

First trimester maternal serum ADAM12s levels in twin pregnancies

Prenatal Diagnosis — Thu, 25 Feb 2010 00:00:00 +0100

In this study, ADAM12s levels in first trimester serum of uncomplicated and complicated twins were evaluated.ADAM12s was studied in maternal serum of 215 twin pregnancies, collected between 2004 and 2008. ADAM12s was measured 'blind to outcome' using AutoDelfia (PerkinElmer, Turku, Finland). As a reference, data from 2423 singletons were used.The median ADAM12s level was increased in euploid twins [1.61 multiples of the median (MoM); n = 209] compared with singletons. The median ADAM12s MoM was significantly lower in monochorionic (1.36 MoM; n = 41) compared with dichorionic twins (1.67 MoM; n = 168) (Mann-Whitney U test, p = 0.005). Trisomy 21 was identified in two pregnancies. Median ADAM12s MoM in twins complicated by hypertensive disorders (1.77 MoM, n = 35) or small for gestational ag...

Validity of sonographic prediction of fetal weight and weight discordance in twin pregnancies

Prenatal Diagnosis — Thu, 25 Feb 2010 00:00:00 +0100

The aims of this study were (1) to assess the accuracy of estimated fetal weight (EFW) in twins and (2) to assess the accuracy of sonographic examination to predict birth weight discordance (BWD).We retrospectively analyzed collected data on twin pregnancies between 2004 and 2007. All twin pregnancies with at least one ultrasound (US) examination within 15 days of delivery were included in this study. EFW was calculated according to Hadlock1, Hadlock2, Ong, Shepard and Warsof formulas. Mean and SD of the standardized errors and percentage of newborns with birth weight (BW) within 10% of EFW were calculated.Two hundred eighty-three twin pregnancies were included. Mean and SD (%) of the standardized errors were 1.54 ± 12.19, 0.19 ± 11.87, 10.93 ± 15.55, - 1.91 ± 14.93 and 5.37 ± 14.91 f...

First-trimester assessment of placenta function and the prediction of preeclampsia and intrauterine growth restriction

Prenatal Diagnosis — Thu, 18 Feb 2010 00:00:00 +0100

Preeclampsia and intrauterine growth restriction (IUGR) are major contributors to perinatal mortality and morbidity worldwide. Both are characterized by impaired trophoblastic invasion of the maternal spiral arteries and their conversion from narrow muscular vessels to wide non-muscular channels. Despite improvement in the understanding of the pathophysiology of these conditions, ability to accurately identify pregnant woman who will develop them is limited. This greatly impairs the development and testing of preventive interventions. While different measures of placental dysfunction have been associated with increased risk for adverse pregnancy outcomes, the ability of any single one to accurately predict these outcomes is poor. Developing predictive tests is further challenged by difficu...

Long-term follow-up of children with ovarian cysts diagnosed prenatally

Prenatal Diagnosis — Tue, 16 Feb 2010 00:00:00 +0100

To assess long-term outcomes of children who had ovarian cysts diagnosed prenatally.We reviewed prenatal records of fetuses diagnosed with ovarian cysts in our ultrasound unit between January 1997 and December 2008. During January-April 2009, those children were invited to our institute for transabdominal pelvic sonographic re-examination. Demonstration of the uterus and adnexa was required.Twenty-one children were diagnosed prenatally with either simple (n = 11) or complex (n = 12) ovarian cysts and treated by either conservative management (n = 13) or surgical intervention (n = 10) postnatally. The ipsilateral ovary was not detected in 8 of 11 children in whom a complex cyst had been detected on the first postnatal scan. Significantly higher rate of ovarian loss was diagnosed when the so...

Prenatal diagnosis of double aortic arch and D-transposition of the great arteries: a case report

Prenatal Diagnosis — Sat, 13 Feb 2010 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Maternal serum anti-Mullerian hormone level is not superior to chronological age in predicting Down syndrome pregnancies

Prenatal Diagnosis — Fri, 12 Feb 2010 00:00:00 +0100

To compare the difference in maternal serum anti-Mullerian hormone (AMH) level between Down syndrome pregnancies and unaffected pregnancies, and to evaluate its performance as a screening marker for Down syndrome pregnancy.A total of 145 pregnancies affected by foetal Down syndrome and 290 unaffected controls matched with maternal age and gestational age were selected, and their archived first or second trimester serum retrieved for AMH assay.There was no significant difference in maternal serum AMH level between pregnancies affected and unaffected by foetal Down syndrome. Our first trimester serum samples had higher AMH concentration compared to second trimester samples.Maternal serum AMH level, as a marker of ovarian age, is not superior to chronological age in predicting Down syndrome p...

A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations

Prenatal Diagnosis — Fri, 12 Feb 2010 00:00:00 +0100

This study shows that array comparative genomic hybridization (aCGH) is particularly effective for identifying the molecular basis of the disease phenotype in fetuses with multiple anomalies. Our study should help to define clinical relevant regions that would need to be included in targeted arrays designed for prenatal testing. Copyright © 2010 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

Increased concentrations of antiangiogenic factors in mirror syndrome complicating twin-to-twin transfusion syndrome

Prenatal Diagnosis — Wed, 03 Feb 2010 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Circulating cell-free DNA levels increase variably following chorionic villus sampling

Prenatal Diagnosis — Tue, 02 Feb 2010 00:00:00 +0100

Cell-free fetal DNA (cffDNA) in maternal plasma results from degradation of fetal and/or placental cells. Our objective was to determine if chorionic villus sampling (CVS) causes increased release of fetal and/or maternal DNA.Fifty-two pregnant women were recruited prior to CVS, performed for clinical indications, at 10 5/7 to 13 2/7 weeks. Maternal blood was collected before and within 15 min after CVS. cffDNA was extracted from plasma. Real-time polymerase chain reaction (PCR) amplification of glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and the Y chromosome sequence DYS1 were used as measures of total and fetal DNA, respectively. All samples were analyzed in triplicate without knowledge of fetal gender.Sensitivity of DYS1 detection in male fetuses was 100% (n = 30); specificity in f...

Non-invasive detection and quantification of human foetal brain lactate in utero by magnetic resonance spectroscopy

Prenatal Diagnosis — Sat, 30 Jan 2010 00:00:00 +0100

To assess the feasibility of foetal cerebral lactate detection and quantification by proton magnetic resonance spectroscopy (1H-MRS) in pregnancies at increased risk of cerebral hypoxia, using a clinical 1.5 T magnetic resonance imaging (MRI) system.Localised 1H-MRS was performed in four patients with pregnancies in their third trimester complicated by intrauterine growth restriction (IUGR). A long echo time (TE) of 288 ms was used to maximise detection and conspicuity of the lactate methyl resonance, together with a short TE MRS acquisition to check for the presence of lipid contamination. Individual peaks in the resulting spectra were measured, corrected for relaxation and referenced to the unsuppressed water signal to provide metabolite concentrations.A resonance peak consistent with th...

Outcome of pregnancies with trisomy 2 cells in chorionic villi

Prenatal Diagnosis — Fri, 29 Jan 2010 00:00:00 +0100

To describe the outcome of pregnancies with trisomy 2 in cultures of first-trimester chorionic villous samples (CVS) and determine whether amniocentesis is necessary in the management of such cases.Cultures of chorionic villi were performed at 11-13 weeks in 37 474 pregnancies. In those with trisomy 2 cells, amniocentesis was performed at 16 weeks. Pregnancy outcome was obtained from maternity records.Trisomy 2 cells in CVS cultures were observed in 45 of 37 474 pregnancies (1.2 per 1000). In 43 cases ultrasound examination at 16-20 weeks showed no fetal abnormalities, amniocentesis demonstrated the presence of only normal cells, and all 43 pregnancies ended in normal healthy live births. The birth weight was below the 5th centile in six neonates (13.9%). There was a significant associatio...

Trisomy 18 and 13 screening: consequences for the Dutch Down syndrome screening programme

Prenatal Diagnosis — Fri, 29 Jan 2010 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes

Prenatal Diagnosis — Thu, 28 Jan 2010 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

First-trimester sonographic findings in trisomy 18: a review of 53 cases

Prenatal Diagnosis — Thu, 28 Jan 2010 00:00:00 +0100

To report our experience with first-trimester sonographic findings in pregnancies complicated by trisomy 18.Proven cases of trisomy 18 undergoing sonographic examination between 11 + 0 and 13 + 6 weeks of gestation were retrospectively identified. Information on maternal demographics, prenatal sonographic findings, and chromosomal analysis results was obtained by reviewing the ultrasound reports and medical records.During the 12-year period from July 1997 to June 2009, 53 cases of full trisomy 18 had first-trimester sonographic examination performed at our institution. All but one fetus displayed one or more abnormal sonographic finding, most commonly increased nuchal translucency thickness (n = 48, 91%). Absent or hypoplastic nasal bone was documented in 53% of the fetuses in which this m...

Pre- and postnatal diagnosis and outcome of fetuses and neonates with esophageal atresia and tracheoesophageal fistula

Prenatal Diagnosis — Thu, 28 Jan 2010 00:00:00 +0100

Clinical symptoms and ultrasound signs during pregnancy could suggest the presence of esophageal atresia (EA). However, most often EA is diagnosed postnatally. The aim of our study is to evaluate the course and outcome for prenatally and postnatally diagnosed EA. In addition, we studied the outcome of isolated versus nonisolated EA.In a retrospective data analysis, ultrasound characteristics, maternal and neonatal variables as well as clinical outcome were compared for fetuses/neonates with prenatal (n = 30) or postnatal (n = 49) diagnosis of EA. Clinical outcome in terms of morbidity and mortality of isolated EA was compared with that of EA complicated by chromosomal or structural anomalies.Prenatally diagnosed children were born 2 weeks earlier than postnatally diagnosed children (36.4 w...

Hypertensive disorders in pregnancy: combined screening by uterine artery Doppler, blood pressure and serum PAPP-A at 11-13 weeks

Prenatal Diagnosis — Wed, 27 Jan 2010 00:00:00 +0100

To explore if the addition of pregnancy-associated plasma protein-A (PAPP-A) to maternal factors and biophysical markers yields a significant improvement in the detection of hypertensive disorders before the clinical onset of disease.Prospective screening study for early preeclampsia (PE), late PE and gestational hypertension (GH) in women attending their first hospital visit at 11+0-13+6 weeks of gestation. The performance of screening for PE and GH by combinations of maternal factors, uterine artery with the lowest pulsatility index (L-PI), mean arterial pressure (MAP) and serum PAPP-A was determined.There were 8061 unaffected controls, 37 of whom developed early PE, 128 with late PE and 140 with GH. Compared to the controls, in early PE and late PE MAP and uterine artery L-PI were incre...

Maternal plasma soluble fms-like tyrosine kinase-1 and free vascular endothelial growth factor at 11 to 13 weeks of gestation in preeclampsia

Prenatal Diagnosis — Mon, 25 Jan 2010 00:00:00 +0100

To investigate the maternal plasma concentration of soluble fms-like tyrosine kinase-1 (sFlt-1) and free vascular endothelial growth factor (free-VEGF) at 11 to 13 weeks of gestation in patients destined to develop preeclampsia (PE) and to examine whether any possible differences in maternal plasma levels are related to uterine artery pulsatility index (PI) and maternal serum placental growth factor (PlGF).Plasma free-VEGF, plasma sFlt-1, serum PlGF and uterine artery PI were measured at 11 to 13 weeks in 90 cases that subsequently developed PE and in 180 unaffected controls.In the majority of cases of PE and controls the levels of free-VEGF were undetectable. In the pregnancies that developed PE, compared to unaffected controls, uterine artery PI was higher, serum PlGF was lower but there...

Maternal serum human placental growth hormone at 11 to 13 weeks in trisomy 21 and trisomy 18 pregnancies

Prenatal Diagnosis — Mon, 25 Jan 2010 00:00:00 +0100

To investigate the maternal serum concentration of human placental growth hormone (hPGH) in trisomy 21 and trisomy 18 pregnancies at 11 to 13 weeks of gestation and to examine the possible association between fetal nuchal translucency (NT) thickness and maternal serum free beta-human chorionic gonadotrophin ([beta]-hCG) and pregnancy-associated plasma protein-A (PAPP-A).The maternal serum concentration of hPGH at 11 to 13 weeks was measured in a case-control study from 28 pregnancies with fetal trisomy 21, 28 with trisomy 18 and 112 pregnancies with euploid fetuses. The median hPGH multiple of the median (MoM) in trisomy 21 and trisomy 18 pregnancies were compared with euploid pregnancies.Serum hPGH was significantly lower in trisomy 21 (0.93 MoM) and trisomy 18 (0.62 MoM) compared to eupl...

Influence of experience, case load, and stage distribution on outcome of endoscopic laser surgery for TTTS - a review

Prenatal Diagnosis — Mon, 25 Jan 2010 00:00:00 +0100

Survival ([ge]1 twin) after laser surgery for patients with twin-to-twin transfusion syndrome (TTTS) ranges from 65 to 93%. However, most studies are noncontrolled and retrospective, and have included a limited number of patients. The aim of this study was to perform a systematic review of outcomes after laser surgery in patients with TTTS.We conducted database and manual searches of reference lists and pertinent journals published between 1995 and 2009 that report outcomes of laser surgery in patients with TTTS. Two authors performed the search independently of each other. There exist only two randomized controlled trials, each with fewer than 80 patients having undergone laser surgery. Uncontrolled and retrospective series were therefore considered as well. Studies had to report sufficie...

Association offirst-trimester low PAPP-A levels with preterm birth

Prenatal Diagnosis — Wed, 20 Jan 2010 00:00:00 +0100

To determine the association of, and predictive ability of, pregnancy-associated plasma protein A (PAPP-A), free [beta]-human chorionic gonadotrophin ([beta]-hCG), and nuchal translucency (NT) with preterm birth (PTB).A 5-year retrospective cohort study of women who underwent first-trimester combined screening was performed. Maternal medical, antepartum, and pregnancy outcome data were obtained. PAPP-A and [beta]-hCG were converted to multiples of the median (MoM), and primary exposure was defined as [le]10th percentile MoM for PAPP-A. Secondary exposures were defined as [ge] 90th percentile MoM for [beta]-hCG and NT values of [ge] 20 and 25 mm. The primary outcome was PTB before 35 weeks and the secondary outcome was PTB before 32 weeks. Univariate, bivariate, multivariate, and receiver-o...

Hematological characteristics in neonates with twin anemia-polycythemia sequence (TAPS)

Prenatal Diagnosis — Tue, 19 Jan 2010 00:00:00 +0100

To evaluate the neonatal hematological features of monochorionic twins with twin anemia-polycythemia sequence (TAPS) and to determine the additional diagnostic value of reticulocyte count measurement.A cohort of consecutive monochorionic twins with TAPS (n = 19) was included in the study and each twin pair was compared with two monochorionic twin pairs (n = 38) unaffected by TAPS or twin-twin transfusion syndrome (TTTS), matched for gestational age at birth. We measured full blood counts on day 1 and determined the incidence of anemia, polycythemia, reticulocytosis and thrombocytopenia.Median inter-twin hemoglobin (Hb) difference in monochorionic twins with and without TAPS was 13.7 g/dL and 2.4 g/dL, respectively (p < 0.01). Median inter-twin reticulocyte count ratio in twins with and wit...

Effect of religion on the attitude of primiparous women toward genetic testing

Prenatal Diagnosis — Tue, 19 Jan 2010 00:00:00 +0100

The objective of this study was to determine the acceptance rate of prenatal diagnostic testing in Lebanon according to religion.Prenatal charts were reviewed to obtain information about prenatal genetic testing. Women were divided according to their religion and were compared regarding the acceptance of triple screen test (TST) or amniocentesis (AMN) and reasons for declining such tests. Differences between groups were examined using the student's t-test, [chi]2-test and multivariate analysis (age [ge] 35 years, religion, education and class).The religious distribution was 73.8% Moslems, 14.0% Christians and 11.2% Druze. Utilization of TST, AMN, and either (TST/AMN) was 61.2%, 7.6% and 67.0%, respectively. Uptake of TST/AMN was highest in Christians and lowest in Moslems and that of AMN h...

Increased nuchal translucency in euploid fetuses - what should we be telling the parents?

Prenatal Diagnosis — Thu, 14 Jan 2010 00:00:00 +0100

Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structural defects and genetic syndromes. The risk of adverse outcome is proportional to the degree of NT enlargement. Although the majority of structural anomalies are amenable to ultrasound detection, unspecified genetic syndromes involving developmental delay may only emerge after birth. Concern over these prenatally undetectable conditions is a heavy burden for parents. However, following detection of enlarged NT the majority of babies with normal detailed ultrasound examination a...

Fetal anatomic survey using three-dimensional ultrasound in conjunction with first-trimester nuchal translucency screening

Prenatal Diagnosis — Wed, 13 Jan 2010 00:00:00 +0100

To determine the visualization rates of fetal anatomic structures by three-dimensional ultrasound (3DUS) at 12-13 weeks of gestation.This was a prospective observational study of women presenting for nuchal translucency ultrasound. Five 3D volumes of the fetus were acquired transabdominally. Two investigators independently reviewed the stored volumes offline following a standardized protocol.One hundred singleton fetuses were examined. The mean time for 3D volumes acquisition was 4.8 min; and for 3D review 17 min. Anatomic structures were seen as follows: cranium, lateral cerebral ventricles and abdominal wall 100%; stomach, vertebrae, upper and lower limbs [ge] 94%; face 71%, bladder 58%, both kidneys 39%, skin overlying spine 26% and heart 18%. Agreement between two observers ranged from...

First trimester aneuploidy screening in the presence of a vanishing twin: implications for maternal serum markers

Prenatal Diagnosis — Mon, 11 Jan 2010 00:00:00 +0100

To assess the impact of a vanishing twin on the levels of the biochemical markers used in the first trimester aneuploidy screening.A retrospective analysis of free [beta]-hCG and PAPP-A levels in 270 women with a normal singleton fetus with ultrasound evidence of a vanishing twin pregnancy. Marker levels (as MoM) were compared in three groups - 76 women with a second empty gestational sac, 194 women with a second gestational sac containing a dead fetus with a measurable crown rump length (CRL), and 1360 matched singleton pregnancies.In women with a second empty gestational sac, the median free [beta]-hCG and PAPP-A MoMs (0.968 and 1.040, respectively) were not significantly different from the 1.0 MoM in singleton pregnancies. In the group with a vanished twin with a measurable - CRL - ther...

Difference in nuchal translucency between monozygotic and dizygotic spontaneously conceived twins

Prenatal Diagnosis — Sat, 09 Jan 2010 00:00:00 +0100

This study obtained analyzable data for 174 monozygotic twins and 107 dizygotic twins. Of the 174 monozygotic twins, 105 were monochorionic, and 69 were dichorionic. Monozygotic monochorionic twin pregnancies had a significantly higher mean fetal NT thickness (1.48 ± 0.62 mm) than either dizygotic twin pregnancies (1.34 ± 0.50 mm) or monozygotic dichorionic twin pregnancies (1.31 ± 0.48 mm). Mean inter-twin NT difference was significantly lower in monozygotic dichorionic twin pregnancies (0.37 ± 0.19 mm) than in dizygotic twin pregnancies (0.57 ± 0.22 mm) or monochorionic twin pregnancies (0.65 ± 0.43 mm).Irrespective of twin zygosity, NT thickness and inter-twin NT difference were larger in monochorionic twins than in dichorionic twins (1.48 ± 0.62 mm versus 1.33 ± 0.49 mm, and 0....

Spontaneous occlusion of umbilical cord in TRAP sequence: umbilical knot

Prenatal Diagnosis — Fri, 08 Jan 2010 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Maternal uniparental disomy 15 in a fetus resulting from a balanced familial translocation t(2;15)(p11;q11.2)

Prenatal Diagnosis — Fri, 08 Jan 2010 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Perinatal outcome following suspected fetal abnormality when managed through a fetal management unit

Prenatal Diagnosis — Fri, 08 Jan 2010 00:00:00 +0100

To determine the perinatal outcomes of the first 1057 cases seen at a fetal management unit (FMU).Record linkage of FMU data with the Victorian Birth data and the Victorian Births Defects Register (BDR).Ninety-nine percent of cases were followed up with 811 (77%) linked to the BDR and 202 (22%) linked to the birth data. Almost two-thirds of cases with birth defects (528) were live births surviving 28 days, 52 (6%) were neonatal deaths, 26 (3%) were stillbirths and 205 (25%) were terminations. The birth defects most prevalent were of the heart/circulatory system (31%). Cases that resulted in a termination were significantly more likely to have multiple birth defects [OR 2.43 (95% CI 1.70, 3.48)], a chromosomal birth defect [OR 3.30 (95% CI 1.96, 5.57)], a lethal birth defect [OR 1.32 (95% C...

Prenatal diagnosis of X-linked myotubular myopathy

Prenatal Diagnosis — Fri, 08 Jan 2010 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Trends in prenatal screening and diagnostic testing among women referred for advanced maternal age

Prenatal Diagnosis — Fri, 08 Jan 2010 00:00:00 +0100

We evaluated the trends in uptake of amniocentesis and chorionic villi sampling (CVS) for prenatal diagnosis compared with uptake of first and second trimester prenatal serum screening for Down syndrome among patients referred for genetic counseling for advanced maternal age (AMA).Patients referred for AMA genetic counseling from 2001 through 2008 were informed of both prenatal serum screening and invasive diagnostic testing options. Testing offered and testing decisions were entered in a computer database and uptake rates calculated for each year with trends compared using logistic regression analysis.From 2001 through 2007, we observed a decline in amniocentesis and CVS uptake (p = 0.0001). This trend reversed in 2008 for both invasive procedures (p = 0.0001). Uptake of prenatal serum sc...

PGD for glycogen storage disease type IV: Birth of healthy twins following successful clinical application of a mutation-specific protocol

Prenatal Diagnosis — Fri, 08 Jan 2010 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Maternal plasma levels of follistatin-related gene protein in the first trimester of pregnancies with Down syndrome

Prenatal Diagnosis — Fri, 08 Jan 2010 00:00:00 +0100

To determine maternal plasma levels of follistatin-related gene protein (FLRG) in the first trimester of pregnancy and assess its potential role as a marker for prenatal screening of Down syndrome.Maternal plasma levels of FLRG were determined in 100 pregnant women with normal fetuses in their first trimester of pregnancy (i.e. 11th to 15th weeks). These results were compared with 20 cases with Down syndrome fetuses, taking into consideration clinical and demographic variables, such as maternal age, maternal weight, gestational age, smoking status and ethnicity.Maternal plasma median of FLRG in the normal population was 1.41 ng/mL with 95% confidence interval (CI) of 1.37-1.70 and interquartile range (IQR) of 0.88, during the 11th to 15th weeks of pregnancy. Maternal age and weight were th...

Identification of circulating placental mRNA in maternal blood of pregnancies affected with fetal congenital heart diseases at the second trimester of pregnancy: implications for early molecular screening

Prenatal Diagnosis — Fri, 08 Jan 2010 00:00:00 +0100

To investigate whether a significantly aberrant expression of circulating placental mRNA genes related with cardiogenesis can be detected at the second trimester of pregnancy.The study was performed in two stages. First stage (development model group): match of 14 placental tissues at delivery of fetuses with congenital heart disease versus 20 controls. Second stage (validation model group): mRNA amplification of abnormal expressed genes in maternal blood samples from 26 women bearing a fetus with a congenital heart disease matched with 28 controls.We identified four functional categories of genes possibly involved in abnormal heart development: cardiac morphogenesis: tenascin, thioredoxin, salvador homolog 1 protein; extracellular matrix (ECM) and valvular tissue biosynthesis; placental-a...

Prenatal diagnosis of del(4)(q27q31.23), due to a maternal balanced complex chromosome rearrangement, characterized by array-CGH

Prenatal Diagnosis — Tue, 05 Jan 2010 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia

Prenatal Diagnosis — Mon, 04 Jan 2010 00:00:00 +0100

Severe congenital neutropenia is an inherited disease characterized by low peripheral blood neutrophils, amenable to bone marrow transplantation. Genetic analysis in the family here described detected a ELA2 splice-site mutation in the affected child and also in his asymptomatic father. The parents requested preimplantation genetic diagnosis (PGD), coupled with HLA matching, to obtain a suitable bone marrow donor for the affected child.A PGD protocol was developed, based on multiplex nested PCR for direct analysis of the ELA2 mutation, flanking polymorphic markers and HLA typing.The amplification efficiency of the mutation was > 90% in single leukocytes from the affected child but only 67% in the father. Analysis of single haploid sperm cells from the father demonstrated three different sp...

Double trisomy revisited - a multicenter experience

Prenatal Diagnosis — Tue, 29 Dec 2009 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Twin-to-twin transfusion syndrome presenting at early stages: is there still a possible role for amnioreduction?

Prenatal Diagnosis — Tue, 29 Dec 2009 00:00:00 +0100

To assess the rate of resolution or progression after first line treatment with amnioreduction and related outcome of pregnancies with twin-to-twin transfusion syndrome (TTTS) diagnosed at stages I-II.Data on 34 monochorionic diamniotic twin pregnancies presenting with TTTS at stage I-II before 26 weeks of gestation were collected retrospectively (1999-2006). All patients underwent at least one amnioreduction. The outcome and the results of neurological follow-up of surviving twins were analysed in relation to the regression or progression of the disease after treatment.Fourteen cases (41%) resolved after treatment while 18 cases (53%) progressed. In two patients immediate complications occurred within one week after amnioreduction; at least one infant survived in 85.3% of cases and there ...

Direct visual control on cord coagulation using a fetoscopy-guided bipolar forceps. Description of a new technique

Prenatal Diagnosis — Wed, 23 Dec 2009 00:00:00 +0100

We describe a new technique to achieve permanent umbilical cord occlusion.A 3 mm in diameter bipolar diathermy forceps was built to house a 1.2 mm fetoscope, emerging between the blades of the forceps. The device can be inserted percutaneously through a 10 Fr Trocar into the amniotic cavity under local analgesia and ultrasound guidance. A monochorionic (MC) twin pregnancy with a twin reversed arterial perfusion sequence at 18 weeks of gestation underwent cord occlusion of the acardiac twin using this new device in 2004.The instrument allowed cord coagulation under direct visual control. The pregnancy continued until 33 weeks of gestation when a male infant of 1980 g was delivered by cesarean section following preterm labor.This new instrument might allow easier access to the cord and reduc...

Determinates of underutilization of amniocentesis among Israeli Arab women

Prenatal Diagnosis — Wed, 23 Dec 2009 00:00:00 +0100

To study the determinants of amniocentesis underutilization among Israeli Arab Muslim women.Pregnant women referred for amniocentesis (n = 476) were identified through family health centers (FHCs). Data on sociodemographic characteristics, knowledge of prenatal testing, and attitudes toward termination of pregnancy (TOP) were collected through interviews and from medical records.Of all women eligible for amniocentesis free of charge, only 17.9% (95% CI: 14.7-21.6) underwent the test. Women referred as a result of advanced maternal age underwent the test less often than those referred for other indications [13.5% and 25.0%, respectively, (p = 0.002)]. In multivariate analyses, determinants for amniocentesis underutilization among women referred for advanced maternal age were: being religiou...

Combined QF-PCR and MLPA molecular analysis of miscarriage products: an efficient and robust alternative to karyotype analysis

Prenatal Diagnosis — Sat, 19 Dec 2009 00:00:00 +0100

To replace G-banded chromosome analysis for miscarriage products with a combined molecular approach: QF-PCR and MLPA, to increase efficiency, reduce costs, and improve the diagnostic success rate for these samples.A review of 10 years of karyotype results for miscarriages products indicated that 2.7% of nonmosaic chromosome imbalance would not be detected by the molecular approach. The molecular approach was validated on 117 samples in parallel with karyotype analysis; no discrepancies were detected. The molecular approach was implemented in September 2007, and in the first 18 months 500 samples were processed.In 500 samples, 117 samples (23%) were abnormal. Of these abnormalities, 64% were trisomies, 12% triploid, 11% monosomy X and 13% other abnormalities. When compared to karyotype anal...

Mosaic trisomy 22: five new cases with variable outcomes. Implications for genetic counselling and clinical management

Prenatal Diagnosis — Fri, 18 Dec 2009 00:00:00 +0100

(Source: Prenatal Diagnosis)

Development of a new lead for in utero fetal pacing

Prenatal Diagnosis — Thu, 17 Dec 2009 00:00:00 +0100

The results from preliminary studies on fetal pacing preclude an application to the human fetus. The purpose of this study was to evaluate the feasibility of acute fetal cardiac pacing following ultrasound-guided epicardial anchorage of a new pacing lead dedicated to the fetal heart.In 12 pregnant ewes, a needle was placed in contact with cardiac chambers under echo-guidance. Using the lumen of the needle, a 3-Fr pacing lead was advanced and fixed on the cardiac wall using a built-in screw. Pacing was attempted using an external pacing system.Lead insertion was successful in all but one. In the first fetus, the needle was advanced too far into the right ventricle leading to pericardial bleeding. The fetal heart rate was overdriven in all at 220/ min. After assessment, pacing lead was unscr...

Interference in an unconjugated estriol assay causing a false negative integrated prenatal screening report

Prenatal Diagnosis — Thu, 17 Dec 2009 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

PAPP-A and free ß-hCG stability in first trimester serum using PerkinElmer AutoDELFIA® and DELFIA® Xpress systems

Prenatal Diagnosis — Mon, 14 Dec 2009 00:00:00 +0100

In this study we aim to investigate the stability of free-[beta]-hCG and PAPP-A over time in serum and whole blood in typical routine temperatures.Serum pools were stored under the following temperatures: 30°C, room temperature, refrigerator temperature and -20°C, for up to 240 days. Stability of the markers in whole blood was examined in a shorter study and compared to serum. Samples were analysed using the AutoDELFIA® and DELFIA® Xpress analysers.On the AutoDELFIA®, considering a 10% change acceptable, PAPP-A levels are stable in serum for 142 days at refrigerator temperature, 37 days at room temperature and 20 days at 30°C. Free-[beta] hCG is stable in serum for 94 days at refrigerator temperature, 3 days at room temperature and 12 h at 30°C. There was no significant change with ...

Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings

Prenatal Diagnosis — Mon, 14 Dec 2009 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

How much do family physicians involve pregnant women in decisions about prenatal screening for Down syndrome?

Prenatal Diagnosis — Thu, 10 Dec 2009 00:00:00 +0100

To assess the extent to which family physicians (FPs) involve women in decisions about prenatal screening for Down syndrome.Based on transcripts of consultations between 41 FPs and 128 women, two raters independently assessed clinician's efforts to involve women in decisions about prenatal screening for Down syndrome using the French-language version of OPTION. Descriptive statistics of OPTION scores were calculated. Construct validity was assessed by performing a principal factor analysis and by measuring association with consultation duration and FPs sociodemograhics. Internal consistency was assessed with Cronbach's alpha and inter-rater reliability with the intraclass correlation coefficient.The overall mean OPTION score was low: 19 ± 7 (range = 0 [no involvement] to 100 [high involve...

A case of Tessier number 7 cleft with severe micrognathia: prenatal sonographic and three-dimensional helical computed tomographic images

Prenatal Diagnosis — Thu, 10 Dec 2009 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Free leptin index and PAPP-A: a first trimester maternal serum screening test for pre-eclampsia

Prenatal Diagnosis — Thu, 10 Dec 2009 00:00:00 +0100

Prophylaxis with low-dose aspirin may reduce the risk of pre-eclampsia (PE) if introduced in first trimester. The performance of first trimester maternal serum screening for PE using free leptin index (fLI) and PAPP-A, where fLI = leptin/leptin soluble receptor was studied.First trimester serum samples from 126 PE pregnancies and 289 control pregnancies were studied. fLI and PAPP-A were converted into gestational age and maternal weight independent log MoM values of PAPP-A and fLI. The screening performance of markers was studied by receiver-operator-characteristics curves. The performance of population screening was estimated by Monte Carlo simulation.fLI was significantly (p < 0.001) elevated [mean log MoM 0.2165 (SD: 0.2604)] compared to controls [mean log MoM -0.0368 (SD: 0.3132)] and ...

ADAM 12 may be used to reduce the false positive rate of first trimester combined screening for Down syndrome

Prenatal Diagnosis — Thu, 10 Dec 2009 00:00:00 +0100

We examined the efficiency of a second generation assay for ADAM12.ADAM12 concentrations were determined in 28 first trimester DS and 503 control pregnancies using a novel Research DelfiaR ADAM12 kit. Log10MoM distributions of ADAM12 and correlations with other markers were established. Population performance of screening was estimated by Monte Carlo simulation.ADAM12 was significantly reduced in the first trimester in DS pregnancies with a log10MoM of -0.1621 (equivalent to 0.68 MoM) (p < 0.001). The reduction decreased with advancing gestational age. ADAM12 used with PAPP-A + hCG[beta] + NT (CUB screening) increased the detection rate (DR) from 86% to 89% for a false positive rate (FPR) of 5%. When used for a fixed DR of 90%, the addition of ADAM12 resulted in a 25% reduction of the FPR....

Fetal cystoscopy for severe lower urinary tract obstruction - initial experience of a single center

Prenatal Diagnosis — Sat, 05 Dec 2009 00:00:00 +0100

To report the experience with fetal cystoscopy and laser fulguration of posterior urethral values (PUV) for severe lower urinary tract obstruction (LUTO).Between July 2006 and December 2008, fetal cystoscopy was offered to 23 patients whose fetuses presented with severe LUTO, favorable urinary analysis and gestational age (Source: Prenatal Diagnosis)

Absent ductus venosus associated with skeletal anomalies of the ulna and radius

Prenatal Diagnosis — Fri, 04 Dec 2009 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Contingent triple-screening for Down syndrome in the second trimester: a feasibility study in Mainland Chinese population

Prenatal Diagnosis — Fri, 04 Dec 2009 00:00:00 +0100

To explore the efficacy of contingent triple-screening for Down syndrome (DS), that is, performing triple-screening in pregnant women with DS risks between 1/270 and 1/1000 at routine double-screening, in a Mainland Chinese population.Maternal serum concentrations of alpha fetoprotein (AFP), free-beta human chorionic gonadotropin (free [beta]-hCG), and unconjugated estriol (uE3) were measured by time-resolved fluoroimmunoassay in 24 double-screening false-negative (DSFN) and 322 double-screening true-negative (DSTN) pregnancies with DS risks between 1/270 and 1/1000 at routine double-screening performed at 15-20 weeks' gestation. DS risk of each pregnancy was calculated by computer software. The detection rate (DR), false-positive rate (FPR), and costs of contingent triple-screening were c...

Serum adiponectin levels increase in lean preeclamptic women

Prenatal Diagnosis — Fri, 04 Dec 2009 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Noninvasive prenatal exclusion of haemoglobin Bart's using foetal DNA from maternal plasma

Prenatal Diagnosis — Thu, 03 Dec 2009 00:00:00 +0100

Prenatal diagnosis of alpha-thalassaemia requires invasive testing associated with a risk of miscarriage. Cell-free foetal DNA in maternal plasma presents an alternative source of foetal genetic material for noninvasive prenatal diagnosis. We aimed to exclude HbBart's noninvasively by detection of unaffected paternal alleles in maternal plasma using quantitative fluorescence PCR (QF-PCR).Microsatellite markers (16PTEL05, 16PTEL06) within the breakpoint regions of -SEA, -FIL and -THAI deletions were analysed using QF-PCR of maternal plasma from 30 families. In this blinded study, genotypes were confirmed using conventional PCR. Maternal plasma from two known cases of HbBart's were also analysed.HbBart's was excluded in 10 out of 30 (33.3%, 95% CI, 17.3-52.8%) mothers by identifying the pres...

A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layers

Prenatal Diagnosis — Thu, 03 Dec 2009 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Prenatal diagnosis of mucopolysaccharidosis VI by enzyme assay in a dried spot of fetal blood: a pioneering case report

Prenatal Diagnosis — Thu, 03 Dec 2009 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Using Z-scores to compare biometry data obtained during prenatal ultrasound screening by midwives and physicians

Prenatal Diagnosis — Thu, 03 Dec 2009 00:00:00 +0100

In this study, midwives have a greater tendency than physicians to normalize biometry data. Such normalization may hamper the sensitivity of routine ultrasound screening for abnormal foetal growth. Copyright © 2009 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

Gestational age-related reference values for amniotic fluid organic acids

Prenatal Diagnosis — Tue, 01 Dec 2009 00:00:00 +0100

We report on the concentration of 21 organic acids in AF obtained by gas chromatography/mass spectrometry between the 12th and 34th weeks of gestation from 92 pregnancies that were not at risk for organic acidurias.We infer normal reference values that can be compared with 134 pregnancies at risk for several metabolic conditions, that is, propionic acidemia, methylmalonic acidemia (methylmalonyl-CoA mutase deficiency or defects in cobalamin metabolism), 4-hydroxybutyric acidemia, glutaric acidemia and pyroglutamic acidemia.Most of the metabolites tested did not show conspicuous variations across gestational ages in normal fetuses, with ranges that were consistently similar to available reference values from pooled samples in previous reports. With rare exceptions, knowledge of pathological...

Ambivalence toward undergoing invasive prenatal testing: an exploration of its origins

Prenatal Diagnosis — Thu, 19 Nov 2009 00:00:00 +0100

This study explores ambivalence toward undergoing amniocentesis among pregnant women with overall positive attitudes. Its novelty lies in the characterization of the type and origins of the ambivalence.Thirty-six women between 35 and 44 years of age were recruited from a US prenatal testing center to participate in structured telephone interviews.Thirty women chose to undergo testing. Attitudes toward undergoing amniocentesis were generally positive, although all participants simultaneously described feeling ambivalent. The women desired the information that amniocentesis could provide yet did not want to place their fetus at risk. Participants cited religious, moral, ethical and intellectual values important in shaping their attitudes toward undergoing amniocentesis. Important referents s...

Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population

Prenatal Diagnosis — Wed, 18 Nov 2009 00:00:00 +0100

To review the prevalence and perinatal management of cases of arthrogryposis delivering at our hospital over a 6-year period.This was a retrospective review of cases of arthrogryposis managed at a UK teaching hospital. Cases were identified from the regional congenital anomalies register and departmental databases. Case notes were reviewed and analysed.From 2002 to 2007, there were 27 cases of arthrogryposis. Sixteen (59.3%) were Caucasians, 7(25.9%) Asians and 4(14.8%) Afro-Caribbean; 17(63%) were nulliparous. In eight (29.6%) cases, there was a family history of congenital anomalies. Three had previously affected siblings and in three cases the parents were affected with arthrogryposis. Five (18.5%) were from consanguineous families. Eighteen (66.7%) cases were diagnosed prenatally at a ...

Is chorionic villus sampling associated with hypertensive disorders of pregnancy?

Prenatal Diagnosis — Tue, 17 Nov 2009 00:00:00 +0100

Our objective is to evaluate for potential associations between chorionic villus sampling (CVS) and hypertensive disorders of pregnancy.Using our genetic database, we compared the rates of hypertensive disorders between women who underwent CVS at 10-13 and 6/7 weeks with those seen for other indications at similar gestational ages who had no invasive procedure. Only singleton and euploid pregnancies were included. Statistical methods including univariable and multivariable logistic regression, supplemented by stratified analyses were used for comparisons.Among 11 012 pregnant women seen between 1990 and 2006 in our center and meeting the inclusion criteria, information on hypertensive disorders of pregnancy were available in 9386, and 9098 met the inclusion criteria. The overall incidence ...

Influence of maternal BMI on genetic sonography in the FaSTER trial

Prenatal Diagnosis — Mon, 16 Nov 2009 00:00:00 +0100

We sought to evaluate the influence of maternal body mass index (BMI) on sonographic detection employing data from the FaSTER trial.Unselected singleton pregnancies underwent detailed genetic sonogram to evaluate for structural fetal anomalies and soft markers for aneuploidy. BMI (kg/m2) were calculated from reported initial visit values. Sensitivity, specificity, false positive and false negative rates (FPR and FNR), likelihood ratio, detection rates, and a missed diagnosis rate (MDR: FNR + marker recorded as 'missing'/N) were calculated.Eight thousand five hundred and fifty-five patients with complete BMI information had detailed genetic sonography. A lower sensitivity with an elevated FNR and MDR was observed in obese women for multiple aneuploid markers (e.g. [ge]2 markers 32% sensitiv...

Endoscopic laser coagulation following amnioreduction for the management of a large placental chorioangioma

Prenatal Diagnosis — Mon, 16 Nov 2009 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction

Prenatal Diagnosis — Mon, 16 Nov 2009 00:00:00 +0100

Prenatally diagnosed confined placental trisomy is associated with increased risk for intrauterine growth restriction (IUGR) and preeclampsia. However, it is unclear how often this might underlie pregnancy complications. Our objective was to evaluate the frequency and distribution of trisomic cells in placentae ascertained for IUGR and/or preeclampsia.Comparative genomic hybridization was applied to two uncultured biopsies from each of 61 placentae referred with maternal preeclampsia and/or IUGR, 11 cases with elevated maternal serum hCG and/or AFP but no IUGR or preeclampsia, and 85 control placentae.Trisomy was observed in four placentae among the IUGR group (N = 43) but in no case of preeclampsia in the absence of IUGR (N = 18). Trisomy was observed in 1 of the 11 cases ascertained for ...

The complete three-vessel view in prenatal detection of congenital heart defects

Prenatal Diagnosis — Thu, 12 Nov 2009 00:00:00 +0100

To evaluate the effectiveness of the complete three-vessel view (c3VV) in assessment of fetuses with prenatally diagnosed congenital heart defects (CHD).Fetuses with prenatal suspicion of CHD were prospectively recruited into the study. All examinations included a c3VV for assessment of abnormalities in alignment, arrangement, vessel size, number of vessels, aortic arch sidedness and color flow mapping. Definite diagnoses of CHD were based on neonatal cardiologic exams or postnatal autopsy.Of 106 consecutive fetuses with CHD, 75 were shown to have at least one abnormality on the c3VV, a detection rate of 70.8%. When septal wall defects were excluded, the detection rate increased to 89%. All cases of transposition of great arteries (TGA), aortic stenosis, pulmonary stenosis, truncus arterio...

Prenatal diagnosis of platyspondylic skeletal dysplasia Torrance type with three-dimensional helical computed tomography

Prenatal Diagnosis — Thu, 12 Nov 2009 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

First trimester maternal serum pregnancy-specific beta-1-glycoprotein (SP1) as a marker of adverse pregnancy outcome

Prenatal Diagnosis — Thu, 12 Nov 2009 00:00:00 +0100

To establish the first trimester levels of pregnancy-specific beta-1-glycoprotein (SP1) in pregnancies with adverse outcome. Furthermore, to determine the screening performance for adverse outcome using SP1 alone and in combination with other first trimester markers including proMBP and PAPP-A.A case-control study was conducted in a primary hospital setting. The SP1 concentration was measured in first trimester maternal serum in pregnancies with small-for-gestational age fetuses (SGA) (n = 150), spontaneous preterm delivery (n = 88), preeclampsia (n = 40) and in controls (n = 500). Concentrations were converted to multiples of the median (MoM) in controls and groups were compared using Mann-Whitney U-test. Logistic regression analysis was used to determine significant factors for predictin...

The maternal age-specific live birth prevalence of trisomies 13 and 18 compared to trisomy 21 (Down syndrome)

Prenatal Diagnosis — Thu, 12 Nov 2009 00:00:00 +0100

Hyperechoic congenital lung lesions in a non-selected population: from prenatal detection till perinatal management

Prenatal Diagnosis — Thu, 12 Nov 2009 00:00:00 +0100

To present longitudinal observations of hyperechoic lung lesions (HLL) in a non-selected population from the time of prenatal diagnosis by ultrasound (US) until postnatal surgery.We conducted a retrospective study of all fetuses diagnosed with an HLL between 1990 and 2005 in our Fetal Medicine Unit.We observed 21 cases of HLL. Among the 17 fetuses with unilateral lesion, two cyst punctures were attempted on fetuses with signs of fetal compromise. Termination of pregnancy (TOP) was performed on seven fetuses. Fourteen fetuses were followed till birth. First Chest X-ray was abnormal in ten cases, while delayed CT scans revealed a lung lesion in 12 cases. Two neonates required emergency surgery and died post operatively. Surgery was successfully performed in all other cases (n = 10). Patholog...

False-positive prenatal diagnosis of trisomy 18 by interphase FISH: hybridization of chromosome 18 alpha-satellite probe (D18Z1) to chromosome 2

Prenatal Diagnosis — Thu, 12 Nov 2009 00:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

The safety of obstetrical ultrasound: a review

Prenatal Diagnosis — Sat, 07 Nov 2009 00:00:00 +0100

This article reviews the current status of ultrasound safety within obstetrics, including proposed mechanisms of harm, existing scientific and clinical evidence regarding those mechanisms, and considerations of safety for the clinical user. Copyright © 2009 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

Chinese women's preferences for prenatal diagnostic procedure and their willingness to trade between procedures

Prenatal Diagnosis — Tue, 27 Oct 2009 00:00:00 +0100

To assess Chinese women's preference for the choice of a prenatal diagnosis test, karyotyping or rapid aneuploidy, and its relationship to maternal psychological state.Three hundred consenting women completed a self administered structured questionnaire which documented their psychological state and their preferred choice of diagnostic test for chromosomal abnormality using a discrete choice experiment design. Diagnostic tests were categorised according to three attributes: completeness of chromosomal information, procedure-to-result time interval and cost.Participants indicated a preference towards the karyotype test irrespective of cost and procedure-to-result time interval. The value of obtaining the extra information provided by karyotyping above that of rapid aneuploidy was £267.82 (...

First trimester pregnancy associated plasma protein-A as a marker for poor pregnancy outcome in patients with early-onset fetal growth restriction

Prenatal Diagnosis — Tue, 27 Oct 2009 00:00:00 +0100

To determine whether pregnancy associated plasma protein-A (PAPP-A) can be used to identify pregnancies at risk for poor perinatal outcomes among patients with second trimester fetal growth restriction (FGR).We analyzed outcomes for singleton pregnancies of patients with evidence of FGR in the second trimester who also had first trimester serum PAPP-A measured for aneuploidy risk assessment. We excluded pregnancies with aneuploidy, major anomalies, fetal infection, or second trimester premature rupture of membranes (PPROM).One hundred and ninety eight pregnancies with second trimester FGR and first trimester serum PAPP-A measurements were identified. PAPP-A below the fifth percentile was associated with an increased rate of third trimester SGA (50% vs 11%, p = 0.012), preterm birth (33.3% ...

Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype

Prenatal Diagnosis — Tue, 27 Oct 2009 00:00:00 +0100

To prospectively study the addition of array comparative genomic hybridization (CGH) to the prenatal evaluation of fetal structural anomalies.Pregnant women carrying fetuses with a major structural abnormality were recruited at the time of invasive procedure for chromosome analysis. Only women whose fetuses had a normal karyotype (n = 50) were subsequently evaluated by array CGH using one of two arrays (1887 clones covering 622 loci or subsequently 4685 clones covering 1500 loci).The mean gestational age of the fetuses was 24.5 weeks (range 11-38 weeks). The most prevalent anomalies were cardiac, central nervous system, skeletal, and urogenital. The median turnaround time for culturing and array CGH diagnosis was 18 days (range 2-72). Four of 50 fetuses had abnormal array results. One (2%)...

Placental growth hormone and growth hormone binding protein are first trimester maternal serum markers of Down syndrome

Prenatal Diagnosis — Tue, 20 Oct 2009 23:00:00 +0100

Placental growth hormone (PGH) is synthesised by the placenta, and its function is modulated by growth hormone binding protein (GHBP). The potential of PGH and GHBP as maternal serum screening markers for Down syndrome (DS) was examined.Maternal serum concentrations of PGH and GHBP were determined by ELISA in 74 DS and 261 control pregnancies in gestational week 8+0 to 13+4. Log10 MoM distributions of the markers were established. The performance of DS screening was estimated by Monte Carlo simulation.PGH log10 MoM (SD) was decreased (p < 0.001) to -0.201 (0.373) and GHBP log10 MoM to -0.116 (0.265) (p = 0.04), in DS pregnancies (n = 34) in week 8+0 to 10+0. In week 10+1 to 13+4, neither PGH (p = 0.16) nor GHBP (p = 0.13) was reduced in DS pregnancies. The detection rate (DR) for PGH in sc...

Placental protein 13 as a first trimester screening marker for aneuploidy

Prenatal Diagnosis — Mon, 19 Oct 2009 23:00:00 +0100

To determine whether Placental Protein 13 (PP13) could be an additional marker in first trimester screening for aneuploidies.To evaluate differences in multiples of the gestation-specific normal median (MoMs), PP13 concentrations were measured in serum samples from Down syndrome, trisomy 18 and 13 affected pregnancies and euploid singleton pregnancies (four for each case matched for duration of storage, maternal weight and age).The PP13 MoM in Down syndrome cases (n = 153) was 0.91 [not statistically significant from controls (n = 853); P = 0.06; Wilcoxon rank sum test, two-tail]. PP13 MoMs were decreased in trisomy 18 (n = 38 - median MoM 0.64; P < 0.0001) and trisomy 13 cases (n = 23 - median MoM 0.46; P < 0.0001). There was a slight upward trend in MoM values of the Down syndrome cases ...

Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma

Prenatal Diagnosis — Mon, 19 Oct 2009 23:00:00 +0100

The genetic trait of a fetus may be determined early on in pregnancy using cell-free fetal DNA extracted from the plasma of pregnant women. The challenges for noninvasive diagnosis include the variable but still low amount of cell-free fetal DNA in the first trimester (57-761 gE/mL) and the competing high background of maternal DNA in the plasma ([sim]90%). Prenatal detection of a paternally inherited dystonia 3 bp deletion mutation was undertaken using cell-free DNA (cfDNA) from the plasma of two at-risk pregnancies. The predicted fetal genotype was subsequently confirmed in each fetus.Cell-free fetal DNA was extracted from the plasma of two pregnancies between 8 and 9 weeks' gestation as determined by fetal ultrasound scan. Analysis was by PCR amplification with size separation using pol...

Maternal serum screening marker levels in women with a previous aneuploidy pregnancy

Prenatal Diagnosis — Mon, 19 Oct 2009 23:00:00 +0100

To re-evaluate in a larger cohort of patients if the maternal serum biochemical markers used in first trimester aneuploidy screening have the same marker distributions in pregnancies with a previous history of aneuploidy compared with those that have no previous history.Information related to previous pregnancy history is routinely recorded as part of first trimester screening in three centres King George, Kings College and Fetal Medicine Centre, London. From the database, records were extracted for women who had a previous pregnancy diagnosed with trisomies 13, 18 or 21. For each woman with a previous aneuploidy, five unaffected pregnancies in women of the same maternal age and with no previous aneuploidy pregnancy were selected as controls. A comparison was made between the marker distri...

Early onset preeclampsia and second trimester serum markers

Prenatal Diagnosis — Sun, 18 Oct 2009 23:00:00 +0100

To examine serum markers measured in the second trimester to identify women who subsequently develop preeclampsia.Clinically defined preeclampsia was confirmed in 45 women who had provided a serum sample as part of Down syndrome screening. Preeclampsia was categorized as mild or severe, as well as early ( (Source: Prenatal Diagnosis)

Amplification failure of the amelogenin gene (AMELX) caused by a primer binding site mutation

Prenatal Diagnosis — Sun, 18 Oct 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Ethnic differences in considerations whether or not to participate in prenatal screening for Down syndrome

Prenatal Diagnosis — Sun, 18 Oct 2009 23:00:00 +0100

To evaluate ethnic differences in considerations whether or not to participate in prenatal screening for Down syndrome and to relate these to differences in participation.The study population consisted of 270 pregnant women from Dutch, Turkish and Surinamese (African and South Asian) ethnic origin, attending midwifery or obstetrical practices in the Netherlands. Women were interviewed after booking for prenatal care. Considerations were assessed by one open-ended question and 18 statements that were derived from focus group interviews. Actual participation was assessed several months later.Women from ethnic minorities were less likely to participate in prenatal screening, which could be attributed to differences in age and religious identity. They more often reported acceptance of 'what Go...

Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples

Prenatal Diagnosis — Sun, 18 Oct 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Natural history of apparently isolated severe fetal ventriculomegaly: perinatal survival and neurodevelopmental outcome

Prenatal Diagnosis — Fri, 09 Oct 2009 23:00:00 +0100

To review the prenatal diagnosis of apparently isolated severe ventriculomegaly (SVM) in a tertiary referral fetal medicine unit and report on perinatal and neurodevelopmental outcomes.All cases of isolated SVM referred to Fetal Medicine at the NMH between 2000 and 2008 were identified. Outcome information was obtained from detailed telephone interviews with parents and paediatric records and histopathology in cases of stillborn fetuses.Thirty-six cases of SVM were referred, out of which 19 were diagnosed with 'apparently' isolated SVM. Macrocrania was present in 88% at 36 weeks (mean HC 439 mm). Cephalocentesis was performed in six cases with poor prognosis. All resulted in perinatal loss. The neurodevelopmental outcome of survivors with isolated SVM (ten live-born survivors) showed major...

Prevention strategies for severe hemoglobinopathies in endemic and nonendemic immigration countries: the Latium example

Prenatal Diagnosis — Thu, 08 Oct 2009 23:00:00 +0100

To review prevention data for hemoglobinopathies from Latium, a large Italian region with a considerable immigrant population and with a well-established regional prevention program.All data pertaining to population screening for hemoglobinopathies in the Latium region were reviewed for the period 1994-2007. Screening was performed universally in secondary schools and to pregnant couples at the time of prenatal care. We have examined the trends in positive screening results as well as the type of hemoglobinopathies detected during the study period, and we have correlated them to the type of population (immigrant vs indigenous).From 1994 to 2007, 167 235 individuals were examined for carrier status for hemoglobinopathies, and 10 353 of them (6.2%) were immigrants. We have registered a three...

Methods for prenatal assessment of fetal cardiac function

Prenatal Diagnosis — Wed, 07 Oct 2009 23:00:00 +0100

Fetal cardiac function is increasingly recognized as a marker of disease severity and prognosis in selected fetal conditions. Magnetic resonance imaging (MRI) has been used in experimental (animal) fetal cardiology but the lack of a noninvasive fetal electrocardiogram (ECG) to trigger image acquisition remains a major limiting factor precluding its application in humans. Fetal medicine specialists are therefore limited to ultrasound to evaluate human fetal cardiac function. In this review, we aim to provide a complete overview of the different ultrasound techniques that can be used for fetal cardiac function assessment and we discuss their (theoretical) strengths and shortcomings. Conventional methods include M-mode assessment of ventricular contractility and Doppler assessment of the prec...

Increased free fetal DNA levels in early pregnancy plasma of women who subsequently develop preeclampsia and intrauterine growth restriction

Prenatal Diagnosis — Wed, 07 Oct 2009 23:00:00 +0100

To determine if maternal plasma ffDNA is increased early in pregnancies which subsequently develop preeclampsia (PE) and intrauterine growth restriction (IUGR).Blood was obtained at 11-14 weeks and plasma stored. Among those who delivered a male infant and had a birth weight under the tenth centile and/or PE, we divided them into those who delivered before 35 weeks (9) and those who delivered after this gestation (15). A third group with uncomplicated pregnancies was used as controls (24). Real time-polymerase chain reaction (RT-PCR) was carried out to detect the multi-copy Y chromosome associated DSY14 gene.There were no differences between the ffDNA levels in the group delivered after 35 weeks and the control group (2.23ge/mL-1.61ge/mL p = 0.39). However, the levels of ffDNA at 11-14 wee...

Fluorescence in situ hybridization in prenatal screening: lessons from an inherited chromosome 18 marker

Prenatal Diagnosis — Wed, 07 Oct 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Evaluation of regional left ventricular longitudinal function in 151 normal fetuses using velocity vector imaging

Prenatal Diagnosis — Wed, 07 Oct 2009 23:00:00 +0100

The purpose of this study was to investigate the clinical value of velocity vector imaging (VVI) in the assessment of normal fetal regional myocardial performance and to establish a normative data set for normal Chinese fetuses.One hundred and fifty-one healthy Chinese fetuses were divided into five groups according to their gestational age. Digital dynamic four-chamber views were collected and analyzed offline. The regional tissue velocity, strain, and strain rate of the interventricular septum and left lateral wall were measured in systole and diastole.Normal systolic and diastolic values for tissue velocity, strain, and strain rate were established. Tissue velocity decreased gradually from the basal segment to the apical segment (P < 0.01), whereas the strain and strain rate were stable...

Fetal sex assignment by first trimester ultrasound: a Tunisian experience

Prenatal Diagnosis — Tue, 06 Oct 2009 23:00:00 +0100

To assess the feasibility and accuracy of fetal sex identification during the first trimester ultrasound exam.A prospective study was carried out on 312 fetuses at 11-14 weeks' gestation. The genital region was examined by transabdominal ultrasound. The angle of the genital tubercle to a horizontal line through the lumbosacral skin was measured. Fetal gender was assigned as male if this angle was > 30° and female when it was < 10°.Sex assignment was feasible in 89.7% and accurate in 85.7% of fetuses. Accuracy was similar in males as in females (87.9% vs 83.3%; NS). However, accuracy increased significantly during the gestational age period in male (Chi-square for trend P = 0.03) but not in female (P = 0.41) fetuses. Compared with singletons, presence of multiple fetuses (n = 12) did not ...

Characteristics of embryo development in Robertsonian translocations' preimplantation genetic diagnosis cycles

Prenatal Diagnosis — Tue, 06 Oct 2009 23:00:00 +0100

To explore the embryo development characteristics in Robertsonian translocations (RTs) in their preimplantation genetic diagnosis (PGD) cycles.A total of 37 RT carrier couples underwent 41 blastomere PGD cycles from August 2005 to September 2008. The development of 272 embryos was analyzed in their PGD cycles.At D3, there were 161 high-grade embryos, including 59 normal/balanced embryos and 102 abnormal embryos. There was no difference between the normal/balanced embryo group and the abnormal embryo group in terms of the high-grade embryo percentage (64.84% vs 56.35%, p = 0.179). However, at D5-D6, the blastocyst percentage in the normal/balanced embryo group was significantly higher than that in the abnormal embryo group (43.96% vs 20.44%, p = 0.000).Normal/balanced embryos developed bett...

Study on the applicability of frontomaxillary facial angle in the first-trimester trisomy 21 fetuses in Chinese population

Prenatal Diagnosis — Tue, 06 Oct 2009 23:00:00 +0100

To evaluate the measurement of frontomaxillary facial (FMF) angle at 11 weeks to 13 weeks, 6 days in a Chinese population and its applicability in the screening for fetal trisomy 21.In a retrospective study, the stored images for the measurement of fetal nuchal translucency (NT) thickness in a Chinese population from August 2003 to March 2007 were reviewed for the comparison of the FMF angle between 22 trisomy 21 fetuses (study group) with 220 randomly selected normal fetuses with satisfactory images (control group).No association between FMF angle and NT, nasal bone length, or fetal heart rate was shown (P > 0.05). But the FMF angle was significantly greater in the trisomy 21 fetuses (89.7 vs 82.8, P < 0.001). The intraobserver and interobserver agreement were assessed in 9.5% (n = 21) no...

PP13 mRNA expression in the cellular component of maternal blood as a marker for preeclampsia

Prenatal Diagnosis — Tue, 06 Oct 2009 23:00:00 +0100

To assess the PP13 expression in the cellular component of blood in both preeclamptic patients and asymptomatic pregnant women during the early second trimester.In the case-control study, peripheral blood samples were obtained from pregnant women with preeclampsia (n = 24) and controls (n = 22). PP13 RNA expression was quantified in the cellular component of the blood by reverse transcription PCR assay. Next, as a cohort study of asymptomatic pregnant women at early gestation, cellular RNA from 41 cases who developed preeclampsia at later gestation and 123 cases of control were analysed, and the possibility of prediction of preeclampsia was assessed.In symptomatic patients, PP13 level in preeclampsia was significantly lower than that in controls (p < 0.001). In the asymptomatic pregnant wo...

Application of a first-trimester prediction model for pre-eclampsia based on uterine arteries and maternal history in high-risk pregnancies

Prenatal Diagnosis — Tue, 06 Oct 2009 23:00:00 +0100

To assess the value of a prediction model for pre-eclampsia (PE) in the first trimester (Ultrasound Obstet Gynecol 2007;30:742-794) for the prediction of late (>34 weeks) and early ([le]34 weeks) PE in a high-risk population.Longitudinal study performed in 152 high-risk pregnancies with at least one high-risk condition: previous PE, hypertension, pregestational diabetes, renal disease, obesity, hyperlipidemia, autoimmune disorders, thrombophilia or recurrent pregnancy loss. Mean uterine artery pulsatility index at 11 to 13 + 6 weeks and a series of maternal variables were combined in order to obtain the estimated 'a posteriori risk for PE' in each woman. This risk for unaffected women was compared with that for patients who subsequently developed late and early PE. The performance of such ...

Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray

Prenatal Diagnosis — Wed, 30 Sep 2009 23:00:00 +0100

To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing.Microarray analysis using either whole-genome bacterial artificial chromosome (BAC)-based and oligonucleotide (oligo)-based microarrays or targeted BAC microarrays was performed on 182 and 62 prenatal cases, respectively, from North American healthcare providers without previously known chromosome abnormalities or family history of a parent with a known chromosome rearrangement.Microarray analysis identified clinically significant chromosome alterations in 7 out of 182 (3.8%) prenatal specimens, two of which each had two unrelated abnormalities. After excluding two of the cases in which the abnormal...

Epiphyseal punctate calcifications (stippling) in complete trisomy 9

Prenatal Diagnosis — Tue, 22 Sep 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Prenatal diagnosis of lower urinary tract obstruction associated with penoscrotal transposition

Prenatal Diagnosis — Tue, 22 Sep 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Trizygotic dichorionic triplets with 46,XX/46,XY chimerism in both fetuses of the monochorionic pair

Prenatal Diagnosis — Tue, 22 Sep 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Trisomy 16 detected by first trimester screening

Prenatal Diagnosis — Tue, 22 Sep 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Maternal serum placental protein 13 at 11-13 weeks of gestation in preeclampsia

Prenatal Diagnosis — Tue, 22 Sep 2009 23:00:00 +0100

To examine the potential value of maternal serum concentration of placental protein 13 (PP13) at 11-13 weeks' gestation in screening for preeclampsia (PE).Serum PP13, PAPP-A and uterine artery pulsatility index (PI) were determined in a case-control study of 208 cases that developed PE including 48 that required delivery before 34 weeks (early-PE) and 416 unaffected controls.Serum PP13 levels, expressed as multiples of the median (MoM) in the unaffected group, were significantly reduced in early-PE (0.83 MoM) but not in late-PE (0.96 MoM). In both early- and late-PE serum PAPP-A (0.55 and 0.84 MoM) was reduced and uterine artery PI (1.61 and 1.25 MoM) was increased. In PE pregnancies there was a significant association between serum PP13 and both uterine artery PI and serum PAPP-A (p < 0.0...

Dependence of maternal serum [AFP]/[hCG] median ratios on age of gestation: comparison of trisomy 21 to euploid pregnancies

Prenatal Diagnosis — Tue, 22 Sep 2009 23:00:00 +0100

Current risk calculations for trisomy 21, which are based on multiples of median (MoM), do not take into account possible differences between euploid and trisomy 21 pregnancies that may develop with gestational age. In order to optimize the predictive value of screening tests, we calculated the ratio between maternal serum concentration of alpha-fetoprotein (AFP) and that of human chorionic gonadotropin (hCG) in euploid and in trisomy 21 pregnancies.The medians of the concentration ratios, [AFP]/[hCG] at 16-21 weeks of gestation, were plotted as a function of gestational age for 307 cases of trisomy 21 and were compared with the medians of 30 549 normal karyotype cases.[AFP]/[hCG] ratio medians were independent of body weight and maternal age. There was a significant difference in the [AFP...

Prenatal diagnosis and pulmonary pathology in congenital high airway obstruction sequence

Prenatal Diagnosis — Mon, 14 Sep 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Gene expression in chorionic villous samples at 11 weeks of gestation in women who develop preeclampsia later in pregnancy: implications for screening

Prenatal Diagnosis — Wed, 02 Sep 2009 23:00:00 +0100

To determine the gene expression profile in chorionic villous samples (CVS) of women destined to develop preeclampsia.cDNA microarray technology was employed. Ten singleton fetuses of women who subsequently developed preeclampsia where compared with a pool of 50 controls. The mRNA expression of some of the genes previously found to be up- or down-regulated were validated by RT-PCR in peripheral blood from 23 pregnant women at term affected with preeclampsia and 23 controls.Altered expression was found among several genes including those involved in invasion of human trophoblasts (Titin), in inflammatory stress (Lactotransferrin), endothelial aberration (Claudin 6), angiogenesis (Vasohibin 1), blood pressure control (Adducin 1). Also the peripheral blood from preeclampsia patients showed si...

Prenatal diagnosis of fetal arachnoid cyst of the quadrigeminal cistern in ultrasonography and MRI

Prenatal Diagnosis — Mon, 17 Aug 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Chorionic villus vacu-sampling in 377 consecutive cases

Prenatal Diagnosis — Sun, 16 Aug 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Prenatal diagnosis and postnatal outcome of fetal spinal defects without Arnold-Chiari II malformation

Prenatal Diagnosis — Sun, 16 Aug 2009 23:00:00 +0100

To determine the prenatal evolution/natural history and postnatal outcome of fetuses diagnosed with a neural tube defect (NTD) lacking the Arnold-Chiari-II malformation (ACM II).This retrospective study reviewed 16 fetuses evaluated with ultrasound (US) and MRI at a single referral center from 1/2000 to 8/2007. Follow-up studies and available postnatal outcomes were reviewed.Postpartum diagnosis was terminal myelocystoceles 7/16 (44%); myelomeningoceles (MMCs) 3/16 (19%); lipomyelomeningoceles 2/16(13%); and thoracic myelocystocele 1/16 (6%). Three patients (19%) were lost to follow-up or termination of pregnancy. Two prenatally diagnosed 'closed' NTD were postnatally found to be MMCs. Three of the myelocystoceles had additional omphalocele, bladder extrophy, imperforate anus and spinal de...

Is maternal renal disease a cause of elevated free [beta]-hCG in first trimester aneuploidy screening?

Prenatal Diagnosis — Mon, 10 Aug 2009 23:00:00 +0100

To asses whether supra elevated levels of maternal serum free beta hCG in the first trimester are associated with impaired renal function.A cohort of 553 women with maternal serum free [beta]-hCG greater than 5 multiple of median (MoM) with a single euploid fetus was matched with a control of the same maternal age (+/-1 year), ethnic origin and with a free [beta]-hCG within the range 0.50-1.50 MoM. Screening samples were analysed for serum creatinine and estimated glomerular filtration rate was calculated. Renal function in the two groups was compared. The database was examined to find outcomes registered as known renal disease amongst the high free [beta]-hCG group.In the group with a supra elevated free [beta]-hCG MoM there was a significant reduction in estimated glomerular filtration r...

Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20

Prenatal Diagnosis — Sun, 09 Aug 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

First-trimester nuchal abnormalities secondary to dehydrated hereditary stomatocytosis

Prenatal Diagnosis — Mon, 03 Aug 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

A microarray-based approach for the identification of epigenetic biomarkers for the noninvasive diagnosis of fetal disease

Prenatal Diagnosis — Sat, 01 Aug 2009 23:00:00 +0100

We describe a novel microarray-based approach for the high-throughput discovery of epigenetic biomarkers for use in the noninvasive detection of fetal genetic disease.We combined a 215 060-probe custom oligonucleotide microarray with a comprehensive library preparation method and novel statistical tools to compare DNA methylation patterns in chorionic villus samples (CVS) with gestational age-matched maternal blood cell (MBC) samples. Our custom microarray was designed to provide high-resolution coverage across human chromosomes 13, 18 and 21.We identified 6311 MspI/HpaII sites across all three chromosomes that displayed tissue-specific differential CpG methylation patterns. To maximize the probability of identifying biomarkers that have clinical utility we filtered our data to identify Ms...

Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings

Prenatal Diagnosis — Thu, 30 Jul 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Non-invasive prenatal detection of fetal trisomy 18 by RNA-SNP allelic ratio analysis using maternal plasma SERPINB2 mRNA: a feasibility study

Prenatal Diagnosis — Thu, 30 Jul 2009 23:00:00 +0100

Non-invasive prenatal diagnosis of chromosome aneuploidies has been achieved by measuring the ratio of two alleles of a single nucleotide polymorphism (SNP) in circulating placental mRNA (the RNA-SNP allelic ratio approach) in maternal plasma. We investigated the feasibility of applying this approach for the non-invasive prenatal detection of fetal trisomy 18.We targeted serpin peptidase inhibitor, clade B (ovalbumin), membrane 2 (SERPINB2) mRNA, which is transcribed from chromosome 18 and is preferentially expressed by the placenta. We developed a mass-spectrometric assay to measure the SERPINB2 RNA-SNP allelic ratios in the placental samples and maternal plasma obtained from pregnancies involving euploid and trisomy 18 fetuses.We were able to separate all the euploid and trisomy 18 place...

Monochorionic diamniotic twins concordant for agenesis of the corpus callosum

Prenatal Diagnosis — Thu, 23 Jul 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor banding

Prenatal Diagnosis — Wed, 22 Jul 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

The proform of eosinophil major basic protein: a new maternal serum marker for adverse pregnancy outcome

Prenatal Diagnosis — Tue, 21 Jul 2009 23:00:00 +0100

To establish the first trimester serum levels of the proform of eosinophil major basic protein (proMBP) in pregnancies with adverse outcome. Furthermore, to determine the screening performance using proMBP alone and in combination with other first trimester markers.A case-control study was conducted in a primary hospital setting. The proMBP concentration was measured in cases with small-for-gestational age (SGA) (n = 150), spontaneous preterm delivery (n = 88), preeclampsia (n = 40), gestational hypertension (n = 10) and in controls (n = 500). Concentrations were converted to multiples of the median (MoM) in controls and groups were compared using Mann-Whitney U-test. Logistic regression analysis was used to determine significant factors for predicting adverse pregnancy outcome. Screening ...

First trimester serum PAPP-A and NGAL in the prediction of late-onset pre-eclampsia

Prenatal Diagnosis — Tue, 21 Jul 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Simple, cheap, practical and efficient amniocentesis training model made with materials found in every obstetrics clinic

Prenatal Diagnosis — Tue, 21 Jul 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families

Prenatal Diagnosis — Tue, 21 Jul 2009 23:00:00 +0100

To present our accumulated data on prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli albino families.Albinism consists of variable phenotypes, but only families with predicted severely handicapped albino offspring, who declared their wish to terminate a pregnancy of such a fetus, are eligible for prenatal testing. Prenatal testing is not offered otherwise. Following detailed genetic investigation and counseling, molecular prenatal testing was performed using the combination of mutation screening, direct sequencing, and haplotype analysis.A total of 55 prenatal tests were performed in 37 families; in 26 families the propositus was the child, and in 11, a parent or a close relative. In 32 families tyrosinase (TYR) mutations were diagnosed. In 5 famili...

A rapid and sensitive prenatal diagnosis of familial amyloidotic polyneuropathy ATTR Val30Met by mass spectrometry

Prenatal Diagnosis — Thu, 16 Jul 2009 23:00:00 +0100

To make a prenatal diagnosis of familial amyloidotic polyneuropathy (FAP) by mass spectrometry with the amniotic fluid.Amniotic-fluid samples of three non-FAP pregnant women and six amniotic-fluid samples of fetal mice whose mother was a heterozygotic FAP amyloidgenic transthyretin (ATTR) Val30Met gene carrier were collected. Electro spray ionization mass spectrometry (ESI-MS) was employed to identify and quantitatively measure the molecular weight of the human transthyretin (TTR) in the amniotic fluid.TTR was detected in the amniotic fluid of all the human samples. In four of the six fetuses of the transgenic mice, human TTR Val30Met was detected. The other two samples showed only mouse TTR without human TTR Val30Met. DNA analysis revealed that the four fetuses were TTR Val30Met positive,...

Genetic considerations in the prenatal diagnosis of overgrowth syndromes

Prenatal Diagnosis — Wed, 15 Jul 2009 23:00:00 +0100

Large (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumors, and other anomalies. Although genetic causes of overgrowth are considered postnatally, they are infrequently diagnosed prenatally. Here, we review prenatal sonographic findings in fetal overgrowth syndromes, including Pallister-Killian, Beckwith-Wiedemann, Sotos, Perlman, and Simpson-Golabi-Behmel. We also discuss prenatal diagnosis options and recurrence r...

The effectiveness of prenatal serum biomarker screening for neural tube defects in second trimester pregnant women: a meta-analysis

Prenatal Diagnosis — Wed, 15 Jul 2009 23:00:00 +0100

Neural tube defects (NTDs) are common and serious birth defects all over the world. Prenatal screening for NTDs using maternal serum alpha-fetoprotein (MSAFP) during the second trimester of pregnancy has been widely used, but its effectiveness remains unclear.We evaluated the studies published in the English and Chinese on MSAFP screening for NTDs. The homogeneity of the studies was evaluated by the forest graph. Meta-analysis was applied to calculate the combined effect values and their 95% confidence intervals.As many as 22 articles were selected according to the criteria and were included in the meta-analysis, for a total of 684 140 pregnant women screened during the second trimester. All the studies selected were homogenous according to the forest graph ([chi]2 = 25.17, P > 0.10). The ...

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

Prenatal Diagnosis — Wed, 15 Jul 2009 23:00:00 +0100

To ascertain all prenatally diagnosed cases of Steroid Sulfatase (STS) deficiency in British Columbia between August 2002 and July 2007 to determine the incidence of this condition, the clinical and laboratory findings, and the risk of a contiguous gene deletion syndrome.We reviewed the medical records of these patients to obtain detailed information about the maternal serum screening results, family history, investigations performed, and outcome of the pregnancy.Thirty pregnant patients were found to have a male fetus/infant with STS deficiency, giving a minimal estimated incidence of this condition of approximately 1 in 1513 males. In twenty nine cases, this condition was isolated. One patient was found to have a contiguous gene deletion syndrome. In cases of sporadic STS deficiency diag...

Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular-cytogenetic, and ultrasonographic evaluation

Prenatal Diagnosis — Tue, 14 Jul 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Prenatal diagnosis of right aortic arch: associated findings, pregnancy outcome, and clinical significance of vascular rings

Prenatal Diagnosis — Mon, 13 Jul 2009 23:00:00 +0100

To analyze the characteristics and clinical implications of right aortic arch (RAA) detected in fetal life.Retrospective study of all cases of RAA diagnosed prenatally in high-risk patients who underwent fetal echocardiography between 2000 and 2007.There were 48 RAA; 18 had vascular ring (Group 1), including 15 RAA with aberrant left subclavian artery and 3 double aortic arch, and 30 had not vascular ring (Group 2), all RAA with mirror-image branching. The prenatal diagnosis was confirmed in 94%. In Group 1 most fetuses had normal heart (89%), and none had 22q11 deletion. There were 16 live births and all infants but one are asymptomatic (mean follow-up of 31 months). In Group 2 almost all fetuses had congenital heart defects (CHDs) (97%), and five were chromosomally abnormal (17%), includ...

Parental expectations, experiences and reactions, sense of coherence and grade of anxiety related to routine ultrasound examination with normal findings during pregnancy

Prenatal Diagnosis — Mon, 06 Jul 2009 23:00:00 +0100

To investigate parents' expectations, experiences and reactions, sense of coherence and anxiety before and after a second-trimester routine ultrasound examination, with normal findings.Before and after ultrasound questionnaires including the scales parents' expectations, experiences and reactions to routine ultrasound examination (PEER-U state of mind index), sense of coherence (SOC) and state and trait anxiety inventory (STAI), were sent to a 1-year cohort of women and their partners. Replies received were 2183.Both parents had significantly less worried state of mind (PEER-U) after the examination than before. Women had a lower grade of state anxiety after than before, but for men there was no significant change. Before the ultrasound, women had a higher degree of worried state of mind, ...

Does the combination of fronto-maxillary facial angle and nasal bone evaluation improve the detection of Down syndrome in the second trimester?

Prenatal Diagnosis — Sun, 05 Jul 2009 23:00:00 +0100

To determine if the combination of fronto-maxillary facial (FMF) angle and nasal bone (NB) evaluation improves the detection of Down syndrome (DS) in the second trimester.We compared the FMF angle measurements in euploid and DS fetuses seen between 2005 and 2008. The FMF angles were measured from stored two-dimensional (2-D) images by investigators blinded to the DS status of the fetus. All NB measurements were obtained prospectively. Receiver operator characteristic curve plot was used to determine the optimal definition for abnormal FMF angle. The detection and false positive rates and likelihood ratios positive and negative for the DS markers and their combinations were compared.Of 22 fetuses with DS seen between 16 and 22 weeks over the study period, NB and FMF angle evaluation was ava...

Decreased serum levels of kisspeptin in early pregnancy are associated with intra-uterine growth restriction and pre-eclampsia

Prenatal Diagnosis — Sun, 05 Jul 2009 23:00:00 +0100

To investigate whether pregnancies with development of subsequent pre-eclampsia and intra-uterine growth restriction are associated with altered levels of kisspeptin in maternal serum in the second trimester.Retrospective case-control study of 16-20 week serum samples matched for duration of storage at -70 °C. Levels of kisspeptin were measured in serum from women with pregnancies with subsequent development of pre-eclampsia (n = 57), intra-uterine growth restriction (n = 118), and matched controls (n = 317).Serum kisspeptin levels were significantly lower in those women who subsequently developed pre-eclampsia than in controls [median (quartile range) 1109 (449) vs 1188 (365) pg/mL, p = 0.029] and in those with intra-uterine growth restriction [1164 (386) vs 1188 (365) pg/mL, p = 0.016]....

Maternal plasma pentraxin 3 at 11 to 13 weeks of gestation in hypertensive disorders of pregnancy

Prenatal Diagnosis — Sun, 28 Jun 2009 23:00:00 +0100

To investigate whether in pregnancies that subsequently develop preeclampsia (PE), the maternal plasma concentration of the inflammatory factor pentraxin 3 (PTX3) at 11-13 weeks of gestation is increased and whether such a possible increase is associated with uterine artery pulsatility index (PI).The concentration of plasma PTX3 at 11-13 weeks was measured in a case-control study from 120 pregnancies that developed PE, including 27 who required delivery before 34 weeks (early PE), 87 cases of gestational hypertension (GH) and 207 normal controls. The median PTX3 multiple of the median (MoM) in the control and hypertensive groups were compared. Regression analysis was used to determine the significance of the association between plasma PTX3 and uterine artery PI.Plasma PTX3 was significantl...

Prenatal 2D and 3D ultrasound diagnosis of diprosopus: case report with post-mortem magnetic resonance images (MRI) and review of the literature

Prenatal Diagnosis — Sun, 28 Jun 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Fetal trisomy 13 and 21 mosaicism diagnosed at amniocentesis: a case report

Prenatal Diagnosis — Sun, 28 Jun 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

The role of feticide in the context of late termination of pregnancy: a qualitative study of health professionals' and parents' views

Prenatal Diagnosis — Thu, 25 Jun 2009 23:00:00 +0100

To provide an in-depth account of the role feticide has relative to experiences of late termination of pregnancy (TOP).Exploratory qualitative interview study. Participants were recruited from three National Health Service (NHS) units that provide secondary and tertiary level fetal medicine services. Data were collected from 36 in-depth interviews, with 12 parents (representing eight cases) who had experienced late TOP for fetal anomaly and 23 health professionals with experience of feticide provision. The qualitative analysis utilised a generative thematic approach, facilitated by Atlas.ti qualitative software package.Two key themes from the study provide data on how perceptions of feticide were described by those involved in late TOP: (1) feticide is recognised and described as a legitim...

Abnormal Shh and FOXC2 expression correlates with aberrant lymphatic development in human fetuses with increased nuchal translucency

Prenatal Diagnosis — Wed, 24 Jun 2009 23:00:00 +0100

Previous research in fetuses with increased nuchal translucency (NT) showed abnormal lymphatic endothelial differentiation characteristics, including increased vascular endothelial growth factor (VEGF)-A expression, and aberrant smooth muscle cells (SMCs) surrounding enlarged jugular lymphatic sacs (JLS). We hypothesized that abnormal Sonic hedgehog (Shh) expression would result in altered VEGF-A signaling in the lymphatic endothelial cells of the JLS and that aberrant acquisition of SMCs could be caused by downregulation of forkhead transcription factor FOXC2 and upregulation of platelet-derived growth factor (PDGF)-B in the lymphatic endothelial cells of the JLS.Five trisomy 21 fetuses and four controls were investigated using immunohistochemistry for Shh, VEGF-A, FOXC2 and PDGF-B expres...

Multiple steroid courses result in tumour shrinkage in congenital pulmonary airway malformation (congenital cystic adenomatoid malformation)

Prenatal Diagnosis — Sun, 21 Jun 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred

Prenatal Diagnosis — Sun, 21 Jun 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)

Commentary: The federal 'Prenatally and Postnatally Diagnosed Conditions Awareness Act'

Prenatal Diagnosis — Sun, 21 Jun 2009 23:00:00 +0100

The recently enacted federal law, the 'Prenatally and Postnatally Diagnosed Conditions Awareness Act' (United States Public Law 110-374) seeks to improve opportunities for parents and pregnant women to anticipate and understand the likely life course of children born with Down syndrome and other (unspecified) conditions. The law is in part a response to the continued growth of prenatal screening and testing. For example, the American College of Obstetricians and Gynecologists' Practice Bulletin 77 recommends that 'Screening and invasive diagnostic testing for aneuploidies be available to all women who present for prenatal care before 20 weeks of gestation regardless of maternal age.' Emerging technologies anticipate an era in which the scope of prenatal screening and testing will be much l...

Recombinant chromosome 10 presenting as a prenatal central nervous system abnormality

Prenatal Diagnosis — Sun, 21 Jun 2009 23:00:00 +0100

No Abstract. (Source: Prenatal Diagnosis)