Prenatal Diagnosis
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Ambivalence toward undergoing invasive prenatal testing: an exploration of its origins
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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...
Source: Prenatal Diagnosis - November 19, 2009 Category: Perinatology & Neonatology Authors: Julie Chevalier Sapp, Sara Chandros Hull, Shelby Duffer, Sarah Zornetzer, Erica Sutton, Theresa M. Marteau, Barbara Bowles Biesecker Source Type: journals
Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population
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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 sibling...
Source: Prenatal Diagnosis - November 18, 2009 Category: Perinatology & Neonatology Authors: O. B. Navti, E. Kinning, P. Vasudevan, M. Barrow, H. Porter, E. Howarth, J. Konje, M. Khare Source Type: journals
Is chorionic villus sampling associated with hypertensive disorders of pregnancy?
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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 ...
Source: Prenatal Diagnosis - November 17, 2009 Category: Perinatology & Neonatology Authors: Anthony O. Odibo, Ashima Singla, Diana L. Gray, Jeffrey M. Dicke, Barbara Oberle, James Crane Source Type: journals
Influence of maternal BMI on genetic sonography in the FaSTER trial
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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...
Source: Prenatal Diagnosis - November 16, 2009 Category: Perinatology & Neonatology Authors: Kjersti M. Aagaard-Tillery, T. Flint Porter, Fergal D. Malone, David A. Nyberg, Jamie Collins, Christine H. Comstock, Gary Hankins, Keith Eddleman, Lorraine Dugoff, Honor M. Wolfe, Mary E. D'Alton Source Type: journals
Endoscopic laser coagulation following amnioreduction for the management of a large placental chorioangioma
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Source: Prenatal Diagnosis - November 16, 2009 Category: Perinatology & Neonatology Authors: Hector Mendez-Figueroa, Ramesha Papanna, Edwina J. Popek, Robert H. Byrd, Kenneth Goldaber, Kenneth J. Moise Jr, Anthony Johnson Source Type: journals
Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction
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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 ...
Source: Prenatal Diagnosis - November 16, 2009 Category: Perinatology & Neonatology Authors: Wendy P. Robinson, Maria S. Peñaherrera, Ruby Jiang, Luana Avila, Jennifer Sloan, Deborah E. McFadden, Sylvie Langlois, Peter von Dadelszen Source Type: journals
The complete three-vessel view in prenatal detection of congenital heart defects
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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...
Source: Prenatal Diagnosis - November 12, 2009 Category: Perinatology & Neonatology Authors: Theera Tongsong, Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan Source Type: journals
Prenatal diagnosis of platyspondylic skeletal dysplasia Torrance type with three-dimensional helical computed tomography
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Source: Prenatal Diagnosis - November 12, 2009 Category: Perinatology & Neonatology Authors: Shunsuke Tamaru, Akihiko Kikuchi, Kimiyo Takagi, Masao Wakamatsu, Kyoko Ono, Tsuguhiro Horikoshi, Gen Nishimura Source Type: journals
First trimester maternal serum pregnancy-specific beta-1-glycoprotein (SP1) as a marker of adverse pregnancy outcome
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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 multiple...
Source: Prenatal Diagnosis - November 12, 2009 Category: Perinatology & Neonatology Authors: Kasper Pihl, Torben Larsen, Inga Laursen, Lone Krebs, Michael Christiansen Source Type: journals
The maternal age-specific live birth prevalence of trisomies 13 and 18 compared to trisomy 21 (Down syndrome)
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This study provides the first estimates of maternal age-specific prevalence of trisomies 13 and 18 for women aged 16-45. Copyright © 2009 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - November 12, 2009 Category: Perinatology & Neonatology Authors: George M. Savva, Kate Walker, Joan K. Morris Source Type: journals
Hyperechoic congenital lung lesions in a non-selected population: from prenatal detection till perinatal management
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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 revea...
Source: Prenatal Diagnosis - November 12, 2009 Category: Perinatology & Neonatology Authors: Bénédicte Lecomte, Hélène Hadden, Karen Coste, Denis Gallot, Hélène Laurichesse, Didier Lemery, Thierry Scheye, Pierre Dechelotte, André Labbé Source Type: journals
False-positive prenatal diagnosis of trisomy 18 by interphase FISH: hybridization of chromosome 18 alpha-satellite probe (D18Z1) to chromosome 2
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Source: Prenatal Diagnosis - November 12, 2009 Category: Perinatology & Neonatology Authors: Anna Collin, Povilas Sladkevicius, Maria Soller Source Type: journals
The safety of obstetrical ultrasound: a review
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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)
Source: Prenatal Diagnosis - November 7, 2009 Category: Perinatology & Neonatology Authors: Laura E. Houston, Anthony O. Odibo, George A. Macones Source Type: journals
Chinese women's preferences for prenatal diagnostic procedure and their willingness to trade between procedures
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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 irre...
Source: Prenatal Diagnosis - October 27, 2009 Category: Perinatology & Neonatology Authors: Yiu Man Chan, Daljit Singh Sahota, Tak Yeung Leung, Kwong Wai Choy, Oi Ka Chan, Tze Kin Lau Source Type: journals
First trimester pregnancy associated plasma protein-A as a marker for poor pregnancy outcome in patients with early-onset fetal growth restriction
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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 m...
Source: Prenatal Diagnosis - October 27, 2009 Category: Perinatology & Neonatology Authors: Nathan S. Fox, Stephen T. Chasen Source Type: journals
Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype
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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, sk...
Source: Prenatal Diagnosis - October 27, 2009 Category: Perinatology & Neonatology Authors: Linda Kleeman, Diana Bianchi, Lisa G. Shaffer, Emily Rorem, Janet Cowan, Sabrina D. Craigo, Hocine Tighiouart, Louise E. Wilkins-Haug Source Type: journals
Placental growth hormone and growth hormone binding protein are first trimester maternal serum markers of Down syndrome
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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 pregn...
Source: Prenatal Diagnosis - October 20, 2009 Category: Perinatology & Neonatology Authors: Michael Christiansen Source Type: journals
Placental protein 13 as a first trimester screening marker for aneuploidy
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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 ...
Source: Prenatal Diagnosis - October 19, 2009 Category: Perinatology & Neonatology Authors: M. P. H. Koster, E. J. Wortelboer, H. S. Cuckle, Ph. Stoutenbeek, G. H. A. Visser, P. C. J. I. Schielen Source Type: journals
Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma
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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 fr...
Source: Prenatal Diagnosis - October 19, 2009 Category: Perinatology & Neonatology Authors: Cathy Meaney, G. Norbury Source Type: journals
Maternal serum screening marker levels in women with a previous aneuploidy pregnancy
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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 una...
Source: Prenatal Diagnosis - October 19, 2009 Category: Perinatology & Neonatology Authors: Kevin Spencer, Ismini Staboulidou, Jader De Jesus Cruz, George Karagiannis, Kypros H. Nicolaides Source Type: journals
Early onset preeclampsia and second trimester serum markers
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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)
Source: Prenatal Diagnosis - October 18, 2009 Category: Perinatology & Neonatology Authors: Geralyn M. Lambert-Messerlian, Glenn E. Palomaki, Louis M. Neveux, Edward Chien, Alex Friedman, Karen Rosene-Montella, Meghan Hayes, Jacob A. Canick Source Type: journals
Amplification failure of the amelogenin gene (AMELX) caused by a primer binding site mutation
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Source: Prenatal Diagnosis - October 18, 2009 Category: Perinatology & Neonatology Authors: S. Caratti, G. Voglino, V. Cirigliano, A. Ghidini, R. Taulli, C. Torre, Carlo Robino Source Type: journals
Ethnic differences in considerations whether or not to participate in prenatal screening for Down syndrome
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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...
Source: Prenatal Diagnosis - October 18, 2009 Category: Perinatology & Neonatology Authors: Mirjam P. Fransen, Hajo I. J. Wildschut, Ineke Vogel, Johan P. Mackenbach, Eric A. P. Steegers, Marie-Louise Essink-Bot Source Type: journals
Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples
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Source: Prenatal Diagnosis - October 18, 2009 Category: Perinatology & Neonatology Authors: Claudia P. Radic, Liliana C. Rossetti, Johanna R. Zuccoli, Martín M. Abelleyro, Irene B. Larripa, Carlos D. De Brasi Source Type: journals
Natural history of apparently isolated severe fetal ventriculomegaly: perinatal survival and neurodevelopmental outcome
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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 perfor...
Source: Prenatal Diagnosis - October 9, 2009 Category: Perinatology & Neonatology Authors: M. M. Kennelly, S. M. Cooley, P. J. McParland Source Type: journals
Prevention strategies for severe hemoglobinopathies in endemic and nonendemic immigration countries: the Latium example
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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 indigen...
Source: Prenatal Diagnosis - October 8, 2009 Category: Perinatology & Neonatology Authors: A. Amato, P. Grisanti, M. Lerone, D. Ponzini, P. Di Biagio, M. P. Cappabianca, P. C. Giordano Source Type: journals
Methods for prenatal assessment of fetal cardiac function
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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...
Source: Prenatal Diagnosis - October 7, 2009 Category: Perinatology & Neonatology Authors: Tim Van Mieghem, Philip DeKoninck, Patricia Steenhaut, Jan Deprest Source Type: journals
Increased free fetal DNA levels in early pregnancy plasma of women who subsequently develop preeclampsia and intrauterine growth restriction
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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 ...
Source: Prenatal Diagnosis - October 7, 2009 Category: Perinatology & Neonatology Authors: S. Illanes, M. Parra, R. Serra, K. Pino, H. Figueroa-Diesel, C. Romero, J. A. Arraztoa, L. Michea, P. W. Soothill Source Type: journals
Fluorescence in situ hybridization in prenatal screening: lessons from an inherited chromosome 18 marker
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Source: Prenatal Diagnosis - October 7, 2009 Category: Perinatology & Neonatology Authors: Morgane Valentin, Annick Ottenwalter, Stéphane Serero, Françoise Muller, Dominique Luton, Guillaume Ducarme Source Type: journals
Evaluation of regional left ventricular longitudinal function in 151 normal fetuses using velocity vector imaging
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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...
Source: Prenatal Diagnosis - October 7, 2009 Category: Perinatology & Neonatology Authors: Qing-Hai Peng, Qi-Chang Zhou, Shi Zeng, Lei-Qi Tian, Ming Zhang, Yi Tan, Da-Rong Pu Source Type: journals
Fetal sex assignment by first trimester ultrasound: a Tunisian experience
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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 ges...
Source: Prenatal Diagnosis - October 6, 2009 Category: Perinatology & Neonatology Authors: Dalenda Chelli, Ahlem Methni, Kaouther Dimassi, Fethia Boudaya, Ezzedine Sfar, Béchir Zouaoui, Hela Chelli, Mohamed Badis Chennoufi Source Type: journals
Characteristics of embryo development in Robertsonian translocations' preimplantation genetic diagnosis cycles
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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 percentag...
Source: Prenatal Diagnosis - October 6, 2009 Category: Perinatology & Neonatology Authors: Jin Huang, Ying Lian, Jie Qiao, Yongjian Chen, Xiulian Ren, Ping Liu Source Type: journals
Study on the applicability of frontomaxillary facial angle in the first-trimester trisomy 21 fetuses in Chinese population
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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 th...
Source: Prenatal Diagnosis - October 6, 2009 Category: Perinatology & Neonatology Authors: Min Chen, Xin Yang, Tak Yeung Leung, Daljit Singh Sahota, Tak Yuen Fung, Lin Wai Chan, Terence Tzu-Hsi Lao, Tze Kin Lau Source Type: journals
PP13 mRNA expression in the cellular component of maternal blood as a marker for preeclampsia
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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 o...
Source: Prenatal Diagnosis - October 6, 2009 Category: Perinatology & Neonatology Authors: Hanako Shimizu, Akihiko Sekizawa, Yuditiya Purwosunu, Masamitsu Nakamura, Antonio Farina, Nicola Rizzo, Takashi Okai Source Type: journals
Application of a first-trimester prediction model for pre-eclampsia based on uterine arteries and maternal history in high-risk pregnancies
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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 poster...
Source: Prenatal Diagnosis - October 6, 2009 Category: Perinatology & Neonatology Authors: I. Herraiz, J. Arbués, I. Camaño, E. Gómez-Montes, A. Grañeras, A. Galindo Source Type: journals
Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray
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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 c...
Source: Prenatal Diagnosis - September 30, 2009 Category: Perinatology & Neonatology Authors: Justine Coppinger, Sarah Alliman, Allen N. Lamb, Beth S. Torchia, Bassem A. Bejjani, Lisa G. Shaffer Source Type: journals
Epiphyseal punctate calcifications (stippling) in complete trisomy 9
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No Abstract. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - September 22, 2009 Category: Perinatology & Neonatology Authors: Marie-José Perez, Anouck Schneider, Anne-Marie Chaze, Nicole Bigi, Geneviève Lefort, Caroline Rouleau, Jean-Michel Faure, Haissam Rahil, Nami Wadih, Alain Couture, Pierre Boulot, Patricia Blanchet, Pierre Sarda, David Geneviève Source Type: journals
Prenatal diagnosis of lower urinary tract obstruction associated with penoscrotal transposition
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No Abstract. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - September 22, 2009 Category: Perinatology & Neonatology Authors: Stephen P. Emery, Francis X. Schneck, David E. Kauffman, Lyndon M. Hill Source Type: journals
Trizygotic dichorionic triplets with 46,XX/46,XY chimerism in both fetuses of the monochorionic pair
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No Abstract. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - September 22, 2009 Category: Perinatology & Neonatology Authors: Mehdi Parva, Alan E. Donnenfeld, Andrew Gerson Source Type: journals
Trisomy 16 detected by first trimester screening
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No Abstract. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - September 22, 2009 Category: Perinatology & Neonatology Authors: F. Petracchi, L. Igarzabal, M. L. Crespo, E. Gadow Source Type: journals
Maternal serum placental protein 13 at 11-13 weeks of gestation in preeclampsia
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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 ...
Source: Prenatal Diagnosis - September 22, 2009 Category: Perinatology & Neonatology Authors: Ranjit Akolekar, Argyro Syngelaki, Jarek Beta, Rafal Kocylowski, Kypros H. Nicolaides Source Type: journals
Dependence of maternal serum [AFP]/[hCG] median ratios on age of gestation: comparison of trisomy 21 to euploid pregnancies
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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 wi...
Source: Prenatal Diagnosis - September 22, 2009 Category: Perinatology & Neonatology Authors: N. Marcus-Braun, O. Birk., E. Manor, D. Segal, G. Harari, I. Toma, S. Shalev, Z.U. Borochowitz, Y. Yaron., R. Sharony, D. Itzhaky, R. Shtoyerman, Z. Appelman, G. Braun Source Type: journals
Prenatal diagnosis and pulmonary pathology in congenital high airway obstruction sequence
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No Abstract. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - September 14, 2009 Category: Perinatology & Neonatology Authors: Ingrid Witters, Jean-Pierre Fryns, Luc De Catte, Philippe Moerman Source Type: journals
Gene expression in chorionic villous samples at 11 weeks of gestation in women who develop preeclampsia later in pregnancy: implications for screening
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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 (Lactotransf...
Source: Prenatal Diagnosis - September 2, 2009 Category: Perinatology & Neonatology Authors: Antonio Farina, Danila Morano, Diego Arcelli, Paola De Sanctis, Akihiko Sekizawa, Yuditiya Purwosunu, Cinzia Zucchini, Giuliana Simonazzi, Takashi Okai, Nicola Rizzo Source Type: journals
Prenatal diagnosis of fetal arachnoid cyst of the quadrigeminal cistern in ultrasonography and MRI
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No Abstract. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - August 17, 2009 Category: Perinatology & Neonatology Authors: Kazufumi Haino, Takehiro Serikawa, Akira Kikuchi, Koichi Takakuwa, Kenichi Tanaka Source Type: journals
Chorionic villus vacu-sampling in 377 consecutive cases
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No Abstract. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - August 16, 2009 Category: Perinatology & Neonatology Authors: Pavel Calda, Miroslav Brestak Source Type: journals
Prenatal diagnosis and postnatal outcome of fetal spinal defects without Arnold-Chiari II malformation
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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 pren...
Source: Prenatal Diagnosis - August 16, 2009 Category: Perinatology & Neonatology Authors: Margaret R. Hüsler, Enrico Danzer, Mark P. Johnson, Michael Bebbington, Leslie Sutton, N. Scott Adzick, R. Douglas Wilson Source Type: journals
Is maternal renal disease a cause of elevated free [beta]-hCG in first trimester aneuploidy screening?
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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 di...
Source: Prenatal Diagnosis - August 10, 2009 Category: Perinatology & Neonatology Authors: Kevin Spencer, Osasumwen Enofe, Nicholas J. Cowans, Anastasia Stamatopoulou Source Type: journals
Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20
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No Abstract. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - August 9, 2009 Category: Perinatology & Neonatology Authors: P. Callier, L. Faivre, S. Pigeonnat, B. Quilichini, N. Marle, C. Thauvin-Robinet, A. L. Mosca, A. Masurel-Paulet, T. Rousseau, P. Sagot, N. Laurent, F. Mugneret Source Type: journals
First-trimester nuchal abnormalities secondary to dehydrated hereditary stomatocytosis
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No Abstract. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - August 3, 2009 Category: Perinatology & Neonatology Authors: O. Ami, O. Picone, L. Garçon, C. Castel, C. Guitton, J. Delaunay, R. Frydman, M. V. Senat Source Type: journals
