MedWorm: Chorionic Villus Sampling

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...

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The Mechanism of Mineralization and the Role of Alkaline Phosphatase in Health and Disease.

Journal of Nippon Medical School — Tue, 16 Feb 2010 22:14:03 +0100

Authors: Orimo H Biomineralization is the process by which hydroxyapatite is deposited in the extracellular matrix. Physiological mineralization occurs in hard tissues, whereas pathological calcification occurs in soft tissues. The first step of mineralization is the formation of hydroxyapatite crystals within matrix vesicles that bud from the surface membrane of hypertrophic chondrocytes, osteoblasts, and odontoblasts. This is followed by propagation of hydroxyapatite into the extracellular matrix and its deposition between collagen fibrils. Extracellular inorganic pyrophosphate, provided by NPP1 and ANKH, inhibits hydroxyapatite formation. Tissue-nonspecific alkaline phosphatase (TNAP) hydrolyzes pyrophosphate and provides inorganic phosphate to promote mineralization. Inorganic pyro...

Double Entry Sampling in Amniocentesis No Extra Help in Twin Gestations

Medscape Ob/Gyn & Women's Health Headlines — Fri, 05 Feb 2010 17:39:58 +0100

Using a double entry technique for amniocentesis or chorionic villus sampling in twin gestations does not significantly reduce fetal loss or premature membrane rupture, Italian researchers reported online in the American Journal of Obstetrics and Gynecology. Reuters Health Information (Source: Medscape Ob/Gyn & Women's Health Headlines)

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...

Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant women.

Chinese Medical Journal — Mon, 01 Feb 2010 00:00:00 +0100

CONCLUSIONS: Invasive prenatal diagnostic techniques are feasible tools for confirming fetal chromosomal abnormalities. Abnormal chromosomes detected in one of the parents carrying abnormal chromosome, ultrasound soft markers, advanced maternal age or positive serum screening results were associated with a higher frequency of fetal genetic diseases. PMID: 20193481 [PubMed - in process] (Source: Chinese Medical Journal)

Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother

American Journal of Medical Genetics Part A — Fri, 15 Jan 2010 00:00:00 +0100

We report on the fortuitous finding of a paternal premutation of the FMR1 gene during prenatal diagnosis in a female fetus whose mother was known to be a premutation carrier. Analysis of the DNA, extracted from cultured cells obtained by chorionic villus sampling, demonstrated the presence in the fetus of two FMR1 alleles of 23 and 71 CGG repeats, respectively. Chromosome analysis confirmed a normal female karyotype. The mother was known to be carrier of a normal allele of 23 repeats and a premutation of 79 repeats. Because the 23-CGG repeat allele is uncommon, we wanted to confirm its presence in the father, also given that a reduction in size from 79 to 71 repeats of the putative maternal allele is an unlikely event. Analysis of the father's DNA did in fact show that he is a carrier of a...

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Potential Errors with Rapid Analysis Techniques: Partial Duplication 21q Resulting from a Paternal Paracentric Insertion Uncovered in Chorionic Villus Sampling by Fluorescence in situ Hybridization

Fetal Diagnosis and Therapy — Wed, 16 Dec 2009 23:00:00 +0100

Fetal Diagn Ther 2009;26:219-222 (DOI:10.1159/000265555) (Source: Fetal Diagnosis and Therapy)

Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester.

European Journal of Medical Genetics — Mon, 14 Dec 2009 00:00:00 +0100

CONCLUSIONS: Our results suggest that the common submicroscopic "genomic disorders" (microdeletion and microduplication syndromes) would not be frequently detected in the first trimester anomalies screening. PMID: 20004752 [PubMed - as supplied by publisher] (Source: European Journal of Medical Genetics)

Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses.

The Ultrasound Review of Obstetrics and Gynecology — Tue, 01 Dec 2009 00:00:00 +0100

CONCLUSION: The rate of adverse outcome was similar to levels recorded in the literature. Using CGH and MLPA did not increase the detection rate of genetic disease, which supports the current approach of repeated ultrasound examinations in these high-risk pregnancies. Copyright (c) 2009 ISUOG. Published by John Wiley & Sons, Ltd. PMID: 19953565 [PubMed - as supplied by publisher] (Source: The Ultrasound Review of Obstetrics and Gynecology)

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 ...

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)

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[Obituary] Obituary: Yury Verlinsky

LANCET — Thu, 10 Sep 2009 23:00:00 +0100

Pioneer in the use of reproductive techniques, including chorionic villus sampling and preimplantation genetic diagnosis. He was born on Sept 1, 1943, in Ishim, Siberia, and died of colon cancer in Chicago, IL, USA, on July 16, 2009, aged 65 years. (Source: LANCET)

Pain associated with chorionic villus sampling: transabdominal vs transcervical approach

American Journal of Obstetrics and Gynecology — Sun, 16 Aug 2009 23:00:00 +0100

Objective: The purpose of this study was to compare anticipated and perceived pain that is associated with transabdominal and transcervical chorionic villus sampling (CVS).Study Design: Women with singleton pregnancies who were undergoing CVS completed a preprocedure 0-10 visual analog scale (VAS; 0 = no pain, 10 = excruciating pain) for anticipated transabdominal and transcervical CVS–related pain. After the procedure, patients completed a VAS for perceived pain.Results: One hundred twenty-one women underwent transabdominal (n = 98) or transcervical (n = 23) CVS. Anticipated pain was 4.5 ± 2.0, which was similar in patients who ultimately underwent transabdominal (score, 4.6 ± 3.8) or transcervical (score, 4.1 ± 2.2) CVS. Postprocedure perceived pain was similar for transabdominal CV...

Alpha and beta thalassemia.

American Family Physician — Fri, 14 Aug 2009 23:00:00 +0100

Authors: Muncie HL, Campbell J The thalassemias are a group of inherited hematologic disorders caused by defects in the synthesis of one or more of the hemoglobin chains. Alpha thalassemia is caused by reduced or absent synthesis of alpha globin chains, and beta thalassemia is caused by reduced or absent synthesis of beta globin chains. Imbalances of globin chains cause hemolysis and impair erythropoiesis. Silent carriers of alpha thalassemia and persons with alpha or beta thalassemia trait are asymptomatic and require no treatment. Alpha thalassemia intermedia, or hemoglobin H disease, causes hemolytic anemia. Alpha thalassemia major with hemoglobin Bart's usually results in fatal hydrops fetalis. Beta thalassemia major causes hemolytic anemia, poor growth, and skeletal abnormalities ...

Blood test for mothers could save lives of hundreds of unborn babies

Guardian Unlimited Science — Sun, 09 Aug 2009 18:55:56 +0100

• Risk-free screening may replace amniocentesis test • Diagnosis would use maternal blood sample The NHS is developing a simple blood test that could save the lives of hundreds of unborn babies who are put at risk when doctors try to establish whether they are developing healthily in the womb, the Guardian has learned.The test could put an end to the use of invasive procedures such as amniocentesis, which cause some women to miscarry.The Guardian has been given exclusive access to the NHS's £2m research into a new technology which, if successful, would benefit the thousands of women a year whose babies are identified as being at high risk of being born with a condition such as cystic fibrosis, Down's syndrome or Duchenne muscular dystrophy.The early signs are so promising that the pro...

Blood test could save lives of hundreds of babies

Guardian Unlimited Science — Sun, 09 Aug 2009 18:55:56 +0100

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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...

Yury Verlinsky dies at 65; pioneered genetic testing method

Los Angeles Times - Science — Wed, 22 Jul 2009 07:00:00 +0100

The researcher, a Russian emigre, was the first in the U.S. to perform chorionic villus sampling to detect birth defects. He also pioneered the development of pre-implantation genetic diagnosis. Yury Verlinsky, the Russian emigré who was the first researcher in the United States to perform chorionic villus sampling to detect birth defects and who pioneered the development of pre-implantation genetic diagnosis to detect potential genetic problems before a fertilized egg is implanted in the mother, died of colon cancer Thursday at Northwestern Memorial Hospital in Chicago. He was 65. (Source: Los Angeles Times - Science)

Normal pregnancy after tetraploid karyotype on trophectoderm biopsy

Fertility and Sterility — Tue, 14 Jul 2009 23:00:00 +0100

Conclusion(s): Although multiple cells can be analyzed using trophectoderm biopsy, abnormalities in the trophectoderm may not be present in the inner cell mass. (Source: Fertility and Sterility)

Larger Hospital Units Have Lower Miscarriage Rates After Invasive Pregnancy Tests

Women's Health / OBGYN News From Medical News Today — Wed, 08 Jul 2009 08:00:00 +0100

A study of more than 64,000 pregnant women has found that miscarriage rates following amniocentesis and chorionic villus sampling (CVS) - two invasive procedures to detect chromosomal abnormalities and birth defects - were 1.4 per cent and 1.9 per cent, respectively. (Source: Women's Health / OBGYN News From Medical News Today)

Larger hospital units have lower miscarriage rates after invasive pregnancy tests

EurekAlert! - Social and Behavioral Science — Tue, 07 Jul 2009 04:00:00 +0100

(Wiley-Blackwell) A study of more than 64,000 pregnant women has found that miscarriage rates following amniocentesis and chorionic villus sampling were 1.4 percent and 1.9 percent, respectively. The research also found that the number of procedures carried out by a department had a significant effect on miscarriage rates with lower rates in larger units. (Source: EurekAlert! - Social and Behavioral Science)

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Who should be allowed to perform amniocentesis and chorionic villus sampling?

The Ultrasound Review of Obstetrics and Gynecology — Sun, 28 Jun 2009 23:00:00 +0100

Authors: Alfirevic Z PMID: 19565531 [PubMed - as supplied by publisher] (Source: The Ultrasound Review of Obstetrics and Gynecology)

Accurate Prenatal Diagnosis of Hb Bart's Hydrops Fetalis in Daily Practice with a Double-Check PCR System.

Acta Haematologica — Thu, 18 Jun 2009 23:00:00 +0100

We describe a double-check PCR assay for accurate prenatal diagnosis. The study was conducted on 64 fetuses at risk of homozygous alpha(0)-thalassemia encountered at our routine thalassemia diagnosis laboratory. Chorionic villus sample (CVS), amniotic fluid or fetal blood specimens were obtained from pregnant women at risk and analyzed by two PCR methods. In the first method, the SEA alpha(0)-thalassemia deletion of parents and fetuses were determined by gap-PCR routinely run in our laboratory. In another method, two specific fragments located 5' to the zeta(2) gene (XbaI fragment) and the alpha(2)-globin gene (RsaI fragment) together with the gap-PCR fragment were multiply co-amplified to determine the presence or absence of normal and alpha(0)-thalassemia alleles. The molecular diagnosis...

Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study

Ultrasound in Obstetrics and Gynecology — Fri, 05 Jun 2009 04:00:00 +0100

To assess the fetal loss rate following amniocentesis and chorionic villus sampling (CVS).This was a national registry-based cohort study, including all singleton pregnant women who had an amniocentesis (n = 32 852) or CVS (n = 31 355) in Denmark between 1996 and 2006. Personal registration numbers of women having had an amniocentesis or a CVS were retrieved from the Danish Central Cytogenetic Registry, and cross-linked with the National Registry of Patients to determine the outcome of each pregnancy. Postprocedural fetal loss rate was defined as miscarriage or intrauterine demise before 24 weeks of gestation.The miscarriage rates were 1.4% (95% CI, 1.3-1.5) after amniocentesis and 1.9% (95% CI, 1.7-2.0) after CVS. The postprocedural loss rate for both procedures did not change during the ...

Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study.

The Ultrasound Review of Obstetrics and Gynecology — Thu, 04 Jun 2009 23:00:00 +0100

CONCLUSIONS: The miscarriage rates (i.e. spontaneous loss and procedure-related loss) after amniocentesis and CVS were 1.4% and 1.9%, respectively. This difference may be explained by the difference in gestational age at the time of the procedures. The miscarriage rate was inversely correlated with the number of procedures performed in a department. Copyright (c) 2009 ISUOG. Published by John Wiley & Sons, Ltd. PMID: 19504504 [PubMed - as supplied by publisher] (Source: The Ultrasound Review of Obstetrics and Gynecology)

[Transcription, Chromatin, and Epigenetics] Placenta-specific Methylation of the Vitamin D 24-Hydroxylase Gene: IMPLICATIONS FOR FEEDBACK AUTOREGULATION OF ACTIVE VITAMIN D LEVELS AT THE FETOMATERNAL INTERFACE

Journal of Biological Chemistry — Fri, 22 May 2009 04:00:00 +0100

This study strongly suggests that epigenetic decoupling of vitamin D feedback catabolism plays an important role in maximizing active vitamin D bioavailability at the fetomaternal interface. (Source: Journal of Biological Chemistry)

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The association between chorionic villus sampling and preeclampsia

Prenatal Diagnosis — Tue, 19 May 2009 04:00:00 +0100

To determine whether an association exists between prenatal diagnostic procedures and preeclampsia.All women who underwent invasive prenatal diagnosis and were not at high risk for preeclampsia were identified during a 15-month period and matched by age with women who had not had invasive prenatal diagnosis. The association between prenatal diagnosis [amniocentesis and chorionic villus sampling (CVS)] and the development of preeclampsia was assessed in univariable and multivariable analyses.Six-hundred and fifty-three women who underwent prenatal diagnosis (501 by amniocentesis and 152 by CVS) were matched by age with 653 women who did not undergo the test. In multivariable analysis, the factors that remained significantly associated with preeclampsia were (1) maternal age less than 25 yea...

Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy

American Journal of Obstetrics and Gynecology — Mon, 20 Apr 2009 17:44:22 +0100

Conclusion: Microfluidic digital PCR allows detection of fetal chromosomal aneuploidy utilizing uncultured amniocytes and chorionic villus tissue in less than 6 hours. (Source: American Journal of Obstetrics and Gynecology)

MFM/geneticist view on prenatal management of twins

American Journal of Medical Genetics Part C: Seminars in Medical Genetics — Fri, 17 Apr 2009 04:00:00 +0100

Twin pregnancies are associated with an increase in both fetal and maternal morbidity and mortality. Health care supervision is complex, increasingly requiring care from maternal-fetal medicine specialists. This review discusses optimal twin prenatal management, which includes recognizing increased twin pregnancy risks specific to twin-types; counseling families regarding fetal complications, ranging from prematurity to cerebral palsy; screening for aneuploidy and open neural tube defects; specific twin guidelines for diagnostic testing, including chorionic villus sampling and amniocentesis; and monitoring for maternal complications. © 2009 Wiley-Liss, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)

Screening for Down syndrome: changing practice of obstetricians.

American Journal of Obstetrics and Gynecology — Wed, 01 Apr 2009 04:00:00 +0100

CONCLUSION: Obstetricians have adopted a new paradigm for Down syndrome screening. First-trimester screening has been incorporated into prenatal care. Experience with these current screening tests will likely influence future guidelines and challenge the long-standing tradition of offering diagnostic testing based on maternal age. This study highlights the need for concise, unambiguous guidelines and a need to address unresolved issues in Down syndrome screening. PMID: 19318157 [PubMed - in process] (Source: American Journal of Obstetrics and Gynecology)

Comment on the article Women's accounts of the physical sensation of chorionic villus sampling and amniocentesis: expectations and experience.

Midwifery — Mon, 30 Mar 2009 04:00:00 +0100

Authors: Karasahin E, Alanbay I PMID: 19339085 [PubMed - as supplied by publisher] (Source: Midwifery)

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Jacobsen syndrome

Orphanet Journal of Rare Diseases — Sat, 07 Mar 2009 05:00:00 +0100

is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton...

Chorionic Villus Sampling Method Deemed Safe

Modern Medicine — Thu, 19 Feb 2009 05:00:00 +0100

Chorionic villus sampling is a frequent and safe prenatal method for genetic screening, according to the conclusions of a review published online Feb. 11 in the Journal of Craniofacial Surgery. (Source: Modern Medicine)

Evaluating the Rate and Risk Factors for Fetal Loss After Chorionic Villus Sampling.

Obstetrics and Gynecology — Fri, 23 Jan 2009 10:57:04 +0100

Authors: Odibo A, Gray DL, Dicke JM, Crane JP, PMID: 19155917 [PubMed - as supplied by publisher] (Source: Obstetrics and Gynecology)

Evaluating the rate and risk factors for fetal loss after chorionic villus sampling.

Obstetrics and Gynecology — Fri, 23 Jan 2009 10:57:01 +0100

Authors: Cohen SM, Yagel S PMID: 19155918 [PubMed - in process] (Source: Obstetrics and Gynecology)

Fetal chromosomal abnormalities: antenatal screening and diagnosis.

American Family Physician — Thu, 15 Jan 2009 05:00:00 +0100

Authors: Anderson CL, Brown CE Pregnant women of all ages should be offered screening and invasive diagnostic testing for chromosomal abnormalities before 20 weeks' gestation. New developments in screening methods have increased the number of options for patients. Diagnostic options include chorionic villus sampling in the first trimester and amniocentesis in the second trimester. Screening options in the first trimester include nuchal translucency testing in combination with measurement of pregnancy-associated plasma protein A and human chorionic gonadotropin. Nuchal translucency testing alone is not as effective. Screening options in the second trimester include serum screening using triple or quadruple screening, and ultrasonography. Patients may also choose a combination of first- ...

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Chorionic Villus Sampling May Raise Hemangioma Risk

Medscape Ob/Gyn & Women's Health Headlines — Tue, 06 Jan 2009 16:46:19 +0100

A review of published studies suggests that chorionic villus sampling (CVS) for prenatal diagnosis may be associated with an increased risk of infantile hemangioma and possibly limb defects. Reuters Health Information (Source: Medscape Ob/Gyn & Women's Health Headlines)

Microarray Analysis Improves Prenatal Diagnosis

Medscape Pathology Headlines — Mon, 29 Dec 2008 16:15:19 +0100

The use of array comparative genomic hybridization (CGH) with amniocentesis or chorionic villus sampling improves prenatal detection of chromosomal abnormalities, results of a new study indicate. Reuters Health Information (Source: Medscape Pathology Headlines)

Chorionic Villus Sampling May Increase Risk Of Hemangiomas

Health News from Medical News Today — Thu, 25 Dec 2008 09:00:00 +0100

Performing chorionic villus sampling (CVS) for prenatal diagnosis may lead to an increased rate of blood vessel malformations called hemangiomas in infants, according to a review in the November Journal of Craniofacial Surgery. (Source: Health News from Medical News Today)

Computerized Prenatal Genetic Testing Decision-Assisting Tool: A Randomized Controlled Trial.

Obstetrics and Gynecology — Wed, 24 Dec 2008 14:53:36 +0100

CONCLUSION:: Using an interactive prenatal testing decision tool results in more informed prenatal genetic testing decisions than viewing standard educational booklets. CLINICAL TRIAL REGISTRATION:: Clinicaltrials.gov, www.clinicaltrials.gov, NCT00686062 LEVEL OF EVIDENCE:: I. PMID: 19104360 [PubMed - as supplied by publisher] (Source: Obstetrics and Gynecology)

Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital

Genetics and Molecular Biology — Sat, 20 Dec 2008 18:22:01 +0100

The study of the fetal karyotype became an important tool for the fetal diagnosis of genetic diseases in the 1970s. Although application of this test has remained very restricted in Brazil, we had 905 referrals for prenatal fetal karyotyping between 1989 and 2007. In 879 cases, a fetal karyotype was obtained. We detected 74 abnormal karyotypes (8.4%), the majority being found when the prior indication was fetal malformation. When obtaining amniotic fluid or chorionic villus samples was difficult, alternative fetal materials (urine, cystic hygroma, cystic lung, intreperitoneal and cerebrospinal fluids) were collected and we had success in obtaining karyotypes in all 13 cases. Although, the option of terminating abnormal pregnancies does not legally exist in Brazil, the information gained in...

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Editorial commentary on the state of clinical genetics in Brazil exemplified by the article on prenatal diagnosis by Kessler et al. Genetics and Molecular Biology (this issue)

Genetics and Molecular Biology — Sat, 20 Dec 2008 18:22:01 +0100

A novel method for extracting DNA from chorionic villus samples for use in CVS-PCR, which ensures complete villus dissociation

Prenatal Diagnosis — Wed, 17 Dec 2008 05:00:00 +0100

To demonstrate that glass disruption beads dissociate chorionic villus samples releasing DNA from mesenchymal and cytotrophoblast cells that is suitable for processing by CVS-PCR (rapid molecular aneuploidy testing). This method is quicker than conventional methods and may limit discrepancies between PCR and karyotype in certain types of placental mosaicism.DNA was extracted from villus samples by mechanical disruption of the cells using glass beads. This method was compared to collagenase incubation followed by chelex extraction of the digested villus. PCR data generated were compared using standard criteria.DNA extracted by glass bead disruption generated data of equivalent quality to that obtained from DNA extracted using conventional collagenase and chelex-based extraction method. The ...

Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects

Prenatal Diagnosis — Fri, 12 Dec 2008 05:00:00 +0100

Fetuses of women with alloantibodies to RhD (D) are at risk from hemolytic disease of the fetus and newborn, but only if the fetal red cells are D-positive. In such pregnancies, it is beneficial to determine fetal D type, as this will affect the management of the pregnancy. It is possible to predict, with a high level of accuracy, fetal blood group phenotypes from genotyping tests on fetal DNA. The best source is the small quantity of fetal DNA in the blood of pregnant women, as this avoids the requirement for invasive procedures of amniocentesis or chorionic villus sampling (CVS). Many laboratories worldwide now provide noninvasive fetal D genotyping as a routine service for alloimmunized women, and some also test for c, E, C and K.In many countries, anti-D immunoglobulin injections are o...

Early administration of enzyme replacement therapy for Pompe disease: Short-term follow-up results

Journal of Inherited Metabolic Disease — Wed, 10 Dec 2008 08:04:52 +0100

We report the case of a 35-week part-of-twin neonate, whose older sibling died earlier because of infantile Pompe disease. At 32 weeks of gestation, fetal echocardiography showed hypertrophic cardiomyopathy in twin 1, which persisted until birth at 35 weeks of gestation. Diagnosis was confirmed after birth by enzyme assay, and mutation analysis showing homozygosity for the sequence change 1327–2A>G (GAA intr 8). Administration of ERT at 18 h of age, resulted in normalization of cardiac abnormalities within 21 weeks of therapy, and normal neurodevelopmental assessment at 46 weeks, using Griffiths Mental Development Scales. To our knowledge, this is the youngest patient reported to receive ERT for Pompe disease, and the first report of prenatal diagnosis o...

Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

Orphanet Journal of Rare Diseases — Tue, 25 Nov 2008 05:00:00 +0100

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and che...

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A randomized study to assess two different techniques of aspiration while performing transabdominal chorionic villus sampling

Ultrasound in Obstetrics and Gynecology — Thu, 20 Nov 2008 05:00:00 +0100

The technique used to perform transabdominal chorionic villus sampling (CVS) is not standardized, but aspiration of villi is generally obtained by discontinuous vacuum created in a syringe, manually or by a hand-grip device. We evaluated the feasibility of a new method of performing CVS which employs a 4-mL Vacutainer® connected to the needle, producing a continuous negative pressure.Two hundred pregnant women, whose gestational age ranged from 10 + 2 to 16 + 2 (mean, 12 + 1) weeks, entered the randomized study, which was powered to detect with 90% probability the absence of any difference in the size of chorionic samples obtained by using a 20-mL syringe with the vacuum obtained by a hand-grip device (Group 1) or by a vacutainer (Group 2). Four operators with different levels of experien...

A randomized study to assess two different techniques of aspiration while performing transabdominal chorionic villus sampling.

The Ultrasound Review of Obstetrics and Gynecology — Tue, 18 Nov 2008 05:00:00 +0100

CONCLUSION: This new technique for performing transabdominal CVS uses a readily available device and is as effective as traditional sampling systems to aspirate villi. It has the advantage of being a one-operator procedure. Copyright (c) 2008 ISUOG. Published by John Wiley & Sons, Ltd. PMID: 19016569 [PubMed - as supplied by publisher] (Source: The Ultrasound Review of Obstetrics and Gynecology)

Microarray analysis improves prenatal diagnosis

Baylor College of Medicine News — Mon, 17 Nov 2008 05:00:00 +0100

A "chip" or array that can quickly detect disorders such as Down syndrome or other diseases associated with chromosomal abnormalities proved an effective tool in prenatal diagnosis in a series of 300 cases at Baylor College of Medicine , said researchers in a report that appears in the current issue of the journal Prenatal Diagnosis. In the report, a team led by Dr. Arthur Beaudet and Dr. Sau Wai Cheung at BCM, described use of array comparative genomic hybridization to analyze samples taken during amniocentesis or chorionic villus sampling for chromosomal abnormalities. Amniocentesis and chorionic villus sampling allow researchers to obtain fetal cells for testing. "Larger studies of this test will help us decide whether it should be used as a first line measure to detect c...

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

Prenatal Diagnosis — Fri, 14 Nov 2008 05:00:00 +0100

To evaluate the use of array comparative genomic hybridization (aCGH) for prenatal diagnosis, including assessment of variants of uncertain significance, and the ability to detect abnormalities not detected by karyotype, and vice versa.Women undergoing amniocentesis or chorionic villus sampling (CVS) for karyotype were offered aCGH analysis using a targeted microarray. Parental samples were obtained concurrently to exclude maternal cell contamination and determine if copy number variants (CNVs) were de novo, or inherited prior to issuing a report.We analyzed 300 samples, most were amniotic fluid (82%) and CVS (17%). The most common indications were advanced maternal age (N = 123) and abnormal ultrasound findings (N = 84). We detected 58 CNVs (19.3%). Of these, 40 (13.3%) were interpreted a...

Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis - experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y

Prenatal Diagnosis — Mon, 10 Nov 2008 05:00:00 +0100

Multiplex ligation-dependent probe amplification (MLPA) is a relatively new method for rapid prenatal diagnosis of common aneuploidies, and larger series to evaluate its performance remain to be reported.A total of 2400 prenatal chorionic villus samples (CVS) and 1525 prenatal samples of amniotic fluids (AF) were analyzed using a commercial MLPA kit (SALSA P095) for aneuploidy of chromosomes 13, 18, 21, X, and Y, and subsequent G-banding.MLPA gave conclusive results in 2330 (97.1%) CVS and 1417 (92.9%) AF samples. MLPA and G-banding showed concordant results except for five CVS and two AF. These were acceptable differences, as MLPA is not expected to detect all cases of mosaicism or partial deletions. MLPA gave inconclusive results for 19 (0.79%) CVS and 20 (1.31%) AF samples in which mosa...

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Embryonic delay in growth and development related to confined placental trisomy 16 mosaicism, diagnosed by I-Space Virtual Reality

Fertility and Sterility — Sat, 01 Nov 2008 04:00:00 +0100

Objective: To demonstrate the use of a novel three-dimensional (3D) virtual reality (VR) system in the visualization of first trimester growth and development in a case of confined placental trisomy 16 mosaicism (CPM+16).Design: Case report.Setting: Prospective study on first trimester growth using a 3D VR system.Patient(s): A 34-year-old gravida 1, para 0 was seen weekly in the first trimester for 3D ultrasound examinations.Intervention(s): Chorionic villus sampling was performed because of an enlarged nuchal translucency (NT) measurement and low pregnancy-associated plasma protein-A levels, followed by amniocentesis.Result(s): Amniocentesis revealed a CPM+16. On two-dimensional (2D) and 3D ultrasound no structural anomalies were found with normal fetal Dopplers. Growth remained below the...

Are invasive Down's tests to be replaced?

HealthcareRepublic GP News — Wed, 15 Oct 2008 00:00:00 +0100

Current prenatal tests for Down's syndrome, such as amniocentesis or chorionic villus sampling, require insertion of a needle into the uterus to acquire a sample for genetic testing. (Source: HealthcareRepublic GP News)

Fetal Loss Uncommon After Chorionic Villus Sampling

Medscape Pathology Headlines — Thu, 02 Oct 2008 14:56:00 +0100

Chorionic villus sampling does not appear to raise the risk of fetal loss. Specifically, investigators at the Washington University School of Medicine in St. Louis found that the fetal loss rate following chorionic villus sampling was no different than the rate among pregnant women who did not undergo an invasive procedure, according to the results of a 16-year retrospective study. Reuters Health Information (Source: Medscape Pathology Headlines)

Evaluating the rate and risk factors for fetal loss after chorionic villus sampling.

Obstetrics and Gynecology — Wed, 01 Oct 2008 04:00:00 +0100

CONCLUSION: The estimated fetal loss rate after CVS was not significantly different from the group that had no procedure. Significant predictors of fetal loss after CVS were identified, but the accuracy of the final model for predicting fetal loss was only modest. LEVEL OF EVIDENCE: II. PMID: 18827123 [PubMed - in process] (Source: Obstetrics and Gynecology)

Techniques for chorionic villus sampling and amniocentesis: a survey of practice in specialist UK centres

Prenatal Diagnosis — Tue, 23 Sep 2008 04:00:00 +0100

Guidelines exist for amniocentesis and chorionic villous sampling (CVS) practice, but there is no consensus regarding individual techniques. Our survey sought to review current practice within specialist centres in the United Kingdom.RCOG sub-specialist training centres were invited to complete a postal questionnaire, seeking their consultants' primary choices for amniocentesis and CVS techniques. Information sought included needle choice, local anaesthetic (LA), suction methods, quantity of samples obtained; and with regard to CVS, preferred approach [transcervical (TC) or transabdominal (TA)].Response rate was 96% providing information on 111 consultants (111 amniocentesis/90 CVS). During amniocentesis, 86% use 22G needles and 70% are helped by an assistant who aspirates a set liquor vol...

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Evaluation of the use of monoclonal antibodies and nested PCR for noninvasive prenatal diagnosis of hemoglobinopathies in India.

American Journal of Clinical Pathology — Thu, 17 Jul 2008 17:47:21 +0100

Authors: D'Souza E, Sawant PM, Nadkarni AH, Gorakshakar A, Mohanty D, Ghosh K, Colah RB Our purpose was to develop and evaluate isolation and enrichment of fetal erythroblasts and a nested polymerase chain reaction (PCR) approach using fetal erythroblasts for detecting the beta-globin gene mutations for a noninvasive prenatal diagnosis of hemoglobinopathies.Maternal blood at different periods of gestation was layered on a Percoll density gradient for enrichment of fetal nucleated RBCs (NRBCs). A combination of 3 monoclonal antibodies (CD45-peridinin chlorophyll protein, glycophorin A-phycoerythrin, and anti-hemoglobin F-fluorescein isothiocyanate) was used for flow cytometric sorting of fetal NRBCs from enriched cells. Different nested PCR-based approaches were used for identification ...

Chorionic villus sampling and the risk of adverse outcome in patients undergoing multifetal pregnancy reduction.

American Journal of Obstetrics and Gynecology — Wed, 16 Jul 2008 04:00:00 +0100

CONCLUSION: CVS prior to MPR does not increase the risk of pregnancy loss. Our data suggest that CVS prior to singleton reduction may decrease the risk of adverse outcome. PMID: 18639217 [PubMed - as supplied by publisher] (Source: American Journal of Obstetrics and Gynecology)

Frontomaxillary facial angle in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks.

The Ultrasound Review of Obstetrics and Gynecology — Tue, 01 Jul 2008 04:00:00 +0100

CONCLUSIONS: Measurement of the FMF angle improves the performance of first-trimester screening for trisomy 21. PMID: 18512854 [PubMed - in process] (Source: The Ultrasound Review of Obstetrics and Gynecology)

Brachydactyly

BioMed Central — Fri, 13 Jun 2008 04:00:00 +0100

("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism. For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has ...

Chorionic Villus Sampling and Risk for Hypertensive Disorders of Pregnancy.

Obstetric Anesthesia Digest — Tue, 03 Jun 2008 17:29:55 +0100

Page: 100DOI: 10.1097/01.aoa.0000319816.43189.c2Authors: Adusumalli, J.; Han, C.S.; Beckham, S.; Bartholomew, M.L.; Williams, J. III (Source: Obstetric Anesthesia Digest)

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Frontomaxillary facial angle in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks

Ultrasound in Obstetrics and Gynecology — Tue, 03 Jun 2008 04:00:00 +0100

Trisomy 21 is associated with a flat face, which can now be quantified by measurement of the frontomaxillary facial (FMF) angle. The aim of this study was to examine whether in trisomy 21 fetuses fetal nuchal translucency (NT) thickness and maternal serum free ß-human chorionic gonadotropin (ß-hCG) and pregnancy-associated plasma protein-A (PAPP-A) are independent of the FMF angle, and to estimate the performance of a first-trimester screening test for trisomy 21 that includes measurement of the FMF angle.This was a prospective study in singleton pregnancies at 11 + 0 to 13 + 6 weeks of gestation in which three-dimensional volumes of the fetal head were obtained and measurement of the FMF angle performed immediately before fetal karyotyping by chorionic villus sampling (CVS). The women c...

Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review.

Twin Research and Human Genetics — Sat, 24 May 2008 15:43:49 +0100

We present the case of a monozygotic twin pregnancy discordant for phenotype and karyotype. A chorionic villus sample was performed at the 11th week of gestation in a primigravida because of cystic hygroma detected by ultrasound in one twin of a monochorionic, biamniotic pregnancy. Rapid testing by means of quantitative fluorescence polymerase chain reaction and conventional karyotyping, obtained by both short- and long-term culture, revealed a homogeneous monosomy X (45,X). Amniocentesis was performed separately for both twins before termination and showed an homogeneous monosomy X in one sample and a 46,X,del(X)(p11.1) karyotype in the other one. Postmortem fetal tissues culture confirmed the discordant karyotype between the two embryos. Placental samples obtained after termination revea...

Chorionic villus sampling

MayoClinic.com Full Feed — Thu, 15 May 2008 06:00:00 +0100

— Overview covers definition, risks, results of this early prenatal test.Sponsored by:Chemotherapy.com - http://www.chemotherapy.com (Source: MayoClinic.com Full Feed)

Women's accounts of the physical sensation of chorionic villus sampling and amniocentesis: expectations and experience.

Midwifery — Wed, 14 May 2008 04:00:00 +0100

CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: the needs of a small minority of women who find CVS or amniocentesis shocking and/or painful may be overlooked. A review of pre-test information and procedures is recommended to ensure that women are better prepared for possible physical sensations during the procedures to address the needs of this minority. PMID: 18485550 [PubMed - as supplied by publisher] (Source: Midwifery)

MALDI-TOF Mass Spectrometry for Trisomy Detection

Springer protocols feed by Molecular Medicine — Fri, 09 May 2008 04:00:00 +0100

Matrix-associated laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry is a tool currently under investigation for use in prenatal detection of abnormalities in chromosome number, such as trisomy 21. Because of its ability to detect extremely small differences in mass, even to the level of a single nucleotide difference, this method can be applied to the detection of single-nucleotide polymorphisms (SNPs), which when present in a heterozygous state, can yield quantitative information regarding chromosome status from diagnostic specimens such as amniotic fluid or chorionic villus samples. MALDI-TOF mass spectrometry has several potential advantages over traditional karyotyping methods, including its amenability to high-throughput analyses and its nonreliance on prior cel...

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Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR

Springer protocols feed by Molecular Medicine — Fri, 09 May 2008 04:00:00 +0100

Autosomal chromosome aneuploid pregnancies that survive to term, namely, trisomies 13, 18, and 21, account for 89% of chromosome abnormalities with a severe phenotype. They are normally detected by full karyotype analysis of cultured cells. The average reporting time for a prenatal karyotype analysis is approximately 14 days, and in recent years, there has been increasing demand for more rapid prenatal results with respect to the common chromosome aneuploidies, to relieve maternal anxiety and facilitate options in pregnancy. The rapid tests that have been developed negate the requirement for cultured cells, instead directly testing cells from the amniotic fluid or chorionic villus sample, with the aim of generating results within 48 h of sample receipt. Interphase fluorescence in si...

Does confined placental mosaicism account for adverse perinatal outcomes in IVF pregnancies?

Human Reproduction — Mon, 21 Apr 2008 04:00:00 +0100

CONCLUSIONS The incidence of CPM is not increased in IVF/ICSI pregnancies compared with spontaneous conceptions. CPM probably does not account for the adverse perinatal outcomes following IVF/ICSI. (Source: Human Reproduction)

Villous explant culture using early gestation tissue from ongoing pregnancies with known normal outcomes: the effect of oxygen on trophoblast outgrowth and migration

Human Reproduction — Mon, 21 Apr 2008 04:00:00 +0100

CONCLUSION Human placental villi and extravillous trophoblasts in the late first trimester of pregnancy are sensitive to oxygen tension, with low oxygen inhibiting extravillous trophoblast outgrowth and migration. (Source: Human Reproduction)

Clinical consequences of an increasing trend of preferential use of cultured villi for molecular diagnosis by CVS

Prenatal Diagnosis — Mon, 10 Mar 2008 04:00:00 +0100

To compare the use of uncultured versus cultured villus cells for DNA-based prenatal diagnosis.A retrospective review of molecular testing of chorionic villus sampling (CVS) cases from 1988-2007. Method of analysis, gestational age (GA) at CVS and at diagnosis, time from procedure to results, results of maternal contamination studies, and the laboratory employed were abstracted from patient charts. Trends in laboratory practices over time were analyzed.Time from CVS to diagnosis was longer when cultured cells were used. Average GA at diagnosis was 14-6/7 weeks with cultured cells vs 13-0/7 weeks with uncultured villi (p < 0.001). Recently, laboratories are more frequently requiring cultured cells, resulting in significantly greater delays in time to diagnosis and GA at results.'Direct' DNA...

Chorionic villus sampling and amniocentesis in 2008.

Current Opinion in Obstetrics and Gynecology — Fri, 07 Mar 2008 08:56:55 +0100

Page: 164DOI: 10.1097/GCO.0b013e3282f7321fAuthors: Evans, Mark I a,b,c; Andriole, Stephanie a,b (Source: Current Opinion in Obstetrics and Gynecology)

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Monosomy 18p

Orphanet Journal of Rare Diseases — Tue, 19 Feb 2008 05:00:00 +0100

refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. The incidence is estimated to be about 1:50,000 live-born infants. In the commonest form of the disorder, the dysmorphic syndrome is very moderate and non-specific. The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ears with detached pinnae. Intellectual deficiency is mild to moderate. A small subset of patients, about 10-15 percent of cases, present with severe brain/facial malformations evocative of holoprosencephaly spectrum disorders. In two-thirds of the cases, the 18p- syndrome is due to a mere terminal deletion occurring de novo, in one-third the following are possible: a de novo translocation with loss of 18p, malsegr...

Expanding the phenotype of mosaic trisomy 20

American Journal of Medical Genetics Part A — Thu, 17 Jan 2008 05:00:00 +0100

Mosaic trisomy 20 is one of the more common cytogenetic abnormalities found on amniocentesis or chorionic villus sampling. Studies have shown that outcome is normal in 90-93% of prenatally diagnosed cases. There are however, reports in the literature of children with mosaic trisomy 20 described as having an assortment of dysmorphic features and varying levels of developmental delay. Unfortunately, the literature has not defined a specific phenotype for this entity. Here we report on three patients with mosaic trisomy 20, two of whom were identified prenatally. Over a number of years of follow-up it has become apparent that there are some striking similarities among the three. Comparison between our patients and the literature cases indicates a more consistent phenotype than has previously ...

Chorionic Villus Sampling

MedicineNet Kids Health General — Thu, 13 Dec 2007 07:00:00 +0100

Title: Chorionic Villus SamplingCategory: Procedures and TestsCreated: 1/31/2005 4:58:00 AMLast Editorial Review: 12/13/2007 (Source: MedicineNet Kids Health General)

DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1)

Journal of Human Genetics — Mon, 03 Dec 2007 18:23:55 +0100

Summary Tyrosinase-related oculocutaneous albinism (OCA1), an autosomal recessive inborn error of pigmentation, is caused by the deficiency of tyrosinase. We had previously identified two different mutations of theTYR gene in a four year old Korean male with mild OCA; a P310insC frameshift in exon 2 and an IVS2-7t→a, -10--11deltt splice junction mutation in exon 3. Here we report a prenatal diagnostic study of a subsequent fetus of the above family that was at 25% risk of OCA1. SSCP/heteroduplex screening, restriction enzyme digestion, and allele-specific oligonucleotide hybridization analyses of DNA obtained by chorionic villus sampling indicated that the fetus was a compound heterozygote for the paternal P310insC and the maternal IVS2-7t→a, -10--11deltt mutations. The...

Procedure-related complications of amniocentesis and chorionic villus sampling.

Obstetrics and Gynecology — Sat, 01 Dec 2007 05:00:00 +0100

Authors: Malone FD, Eddleman KA PMID: 18055743 [PubMed - in process] (Source: Obstetrics and Gynecology)

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[X-linked adrenoleukodystrophy]

Annales d'Endocrinologie — Sat, 01 Dec 2007 05:00:00 +0100

Authors: Aubourg P X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder. ALD is characterized by progressive demyelination within the central and peripheral nervous system, adrenal insufficiency (Addison's disease) and accumulation of very-long-chain fatty acids (VLCFA) in plasma, fibroblasts and tissues. The overall incidence of ALD is 1:17,000 including hemizygotes and heterozygotes who are frequently symptomatic. There are two main ALD phenotypes: 1) a cerebral demyelinating form which affects boys between 5-12 years, but also 35% of adult males; 2) a form that mainly involves the spinal cord (adrenomyeloneuropathy, AMN) in adult males between 20-50 years and 50% of heterozygous women after the age of 40 years. AMN presents with progressive spastic paraparesis....

Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis

Indian Journal of Pediatrics — Fri, 23 Nov 2007 17:09:34 +0100

Abstract Assay of hexosaminidase A and B enzymes in four cases with developmental regression and cherry red spot on fundus examination confirmed that three cases had Tay-Sachs disease, and one case had Sandhoff disease. Prenatal diagnosis was carried out by hexosaminidase enzyme assay in amniotic fluid and cells in one family, and chorionic villus sample in the second family. The fetus was diagnosed to be unaffected in one, and affected in the other family. Assay of hexosaminidase A and B is useful for specific diagnosis of GM2 gangliosidosis, and for prenatal diagnosis to reduce the burden of these disorders. Content Type Journal ArticleCategory Original ArticleDOI 10.1007/BF02755072Authors Manjeet Kaur, All India Institute of Medical Sciences Genetic Unit, WHO Collabo...

Recent advances in non-invasive prenatal DNA diagnosis through analysis of maternal blood

Journal of Obstetrics and Gynaecology Research — Mon, 12 Nov 2007 19:40:12 +0100

Journal of Obstetrics and Gynaecology Research, Volume 33, Issue 6, Page 747-764, December 2007. Abstract Prenatal diagnosis of aneuploidy and single-gene disorders is usually performed by collecting fetal samples through amniocentesis or chorionic villus sampling. However, these invasive procedures are associated with some degree of risk to the ... (Source: Journal of Obstetrics and Gynaecology Research)

Prenatal diagnosis of [beta]-thalassemia: 12 years' experience at a single laboratory in Pakistan

Prenatal Diagnosis — Tue, 06 Nov 2007 05:00:00 +0100

To evaluate the service for prenatal diagnosis of [beta]-thalassemia in Pakistan.All prenatal diagnoses (PNDs) for [beta]-thalassemia since the introduction of the service in 1994 were studied. PND was done by the Amplification Refractory Mutation System (ARMS), or linkage analysis, when required. The reported errors in PND were investigated for clerical mistakes, technical problems with PCR, maternal contamination and nonpaternity.In the 12 years 2174 PNDs were done for [beta]-thalassemia at the country's main referral center. The use of PND has increased from 26 in 1994 to 381 in 2006. Over 97% of the couples who requested PND already had an affected child. In over 97% of the cases PND was done by direct mutation analysis. The reported rate of misdiagnosis was 0.37%. The causes of misdia...

First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation.

Genetics and Molecular Research — Wed, 24 Oct 2007 23:45:03 +0100

Authors: Kedar PS, Nampoothiri S, Sreedhar S, Ghosh K, Shimizu K, Kanno H, Colah RB Pyruvate kinase (PK) deficiency is a rare red cell glycolytic enzymopathy. The purpose of the present investigation was to offer prenatal diagnosis for PK deficiency to a couple who had a previous child with severe enzyme deficiency and congenital non-spherocytic hemolytic anemia. PK deficiency was identified in the family by assaying the enzyme activity in red cells. Chorionic villus sampling was performed in an 11-week gestation and the mutation was located in exon 10 of the PKLR gene characterized by polymerase chain reaction and using restriction endonuclease digestion with the MspI enzyme, which was confirmed by DNA sequencing on the ABI 310 DNA sequencer. Both the parents were heterozygous for the...

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The mitral gap at 11 + 0 to 13 + 6 weeks: marker of trisomy 21 or artifact?

Ultrasound in Obstetrics and Gynecology — Thu, 11 Oct 2007 04:00:00 +0100

We examined each waveform in each trace to determine whether there was a gap between the E-wave (early diastolic filling) and A-wave (atrial contraction) in the waveform across the mitral valve. We also examined each trace that contained at least one waveform with a mitral gap and, first, noted the order of waveforms with a mitral gap relative to those without and, second, measured the A-wave peak velocity in a representative waveform with a mitral gap and in one without. The second study was a prospective investigation in which Doppler velocity waveforms of the mitral valve inflow were assessed in 227 singleton pregnancies immediately before chorionic villus sampling.A mitral gap was observed in 16 (5.5%) of the chromosomally normal and in 25 (17.4%) of the trisomy 21 fetuses. The inciden...

Safety of Chorionic Villus Sampling in the Presence of Asymptomatic Subchorionic Hematoma

Fetal Diagnosis and Therapy — Tue, 09 Oct 2007 12:56:14 +0100

Fetal Diagn Ther 2007;22:394-400 (DOI:10.1159/000103303) (Source: Fetal Diagnosis and Therapy)

Evolving trends in 2000 cases of multifetal pregnancy reduction: a single-center experience.

American Journal of Obstetrics and Gynecology — Mon, 01 Oct 2007 04:00:00 +0100

CONCLUSION: Recent trends in MPR demonstrates significant increases in overall reductions to a singleton fetus, the use of chorionic villus sampling, and the presence of monochorionicity. PMID: 17904974 [PubMed - in process] (Source: American Journal of Obstetrics and Gynecology)

Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation

Prenatal Diagnosis — Thu, 13 Sep 2007 04:00:00 +0100

Use high-resolution genome analysis to clarify the genomic integrity in a fetus with a cytogenetically balanced translocation t(2;9)(q11.2;q34.3).High resolution molecular cytogenetic analyses including G-banded chromosome analysis, fluorescence in situ hybridization (FISH), and array-comparative genomic hybridization (CGH) were performed on cultured cells, and DNA extracted from chorionic villus sample (CVS), amniotic fluid cells and fetal tissue. In addition, a custom fosmid-based tiling path 9q34.3 microarray with a resolution of 35-40 kb was used for array-CGH.GTG-banding analysis showed an apparently balanced de novo translocation between the long arms of chromosomes 2 and 9; t(2;9)(q11.2;q34.3). Array-CGH using a targeted chromosomal microarray analysis (CMA) uncovered a submicroscop...

[Abnormal placental caryotype in severe intrauterine growth retardations (IUGR). Case report.]

Gynecologie, Obstetrique & Fertilite — Thu, 16 Aug 2007 04:00:00 +0100

We report a case of confined placental homogenous tetraploidy associated with major fetal growth retardation leading to the premature delivery of a life born baby with a normal caryotype. We discuss the interest of chorionic villus sampling in cases of unexplained severe fetal growth retardation. PMID: 17707675 [PubMed - as supplied by publisher] (Source: Gynecologie, Obstetrique & Fertilite)

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Treatment with amniopatch of premature rupture of membranes after first-trimester chorionic villus sampling

Prenatal Diagnosis — Mon, 13 Aug 2007 04:00:00 +0100

To assess the amniopatch procedure when premature rupture of membranes occurs after first-trimester chorionic villus sampling (CVS).From May 2001 to June 2004, the amniopatch procedure was offered in cases of premature rupture of membranes after CVS when severe oligohydramnios was present (largest vertical pocket < 2 cm) and persistent (more than 1 week).The amniopatch was placed in five pregnancies at 12-18 weeks of gestation, resulting in amniotic fluid restoration in all but one pregnancy. In three pregnancies, fetal demise was observed at 1, 2 and 36 days after the procedure. The last procedure resulted in a healthy newborn.Although the amniopatch restored normal amniotic fluid levels in all cases, 4 of the 5 cases resulted in fetal demise. Copyright © 2007 John Wiley & Sons, Ltd. (So...

SCE Frequency Measurement Could Be Useful in the Prenatal Diagnosis of Roberts Syndrome.

Twin Research and Human Genetics — Wed, 01 Aug 2007 04:00:00 +0100

Authors: Bukvic N, Resta N, Bukvic D, Susca FC, Bagnulo R, Fanelli M, Guanti G In a previously published article (Resta et al., 2006) on Robert's syndrome in prenatal diagnosis, a case of a 36-year-old woman and her 36-year-old, nonconsanguineous husband were presented. Our findings suggest the existence of nonsense mediated decay (NMD) variability which could account for the varying severity reported in carriers of identical mutations. Furthermore, fetal cells were used to evaluate the influence of premature centromere separation (PCS) on the sister chromatid exchange (SCE) and micronucleus (MN) frequency. Given the similar variation observed in the SCE frequencies, dependent on tissue/cell type (amniotic fluid sample, chorionic villus sampling) and duration of in vitro cultures (48 h...

[Letters to JMG] Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

Journal of Medical Genetics — Fri, 29 Jun 2007 04:00:00 +0100

A 4.3 Mb duplication of chromosome 21 bands q22.13–q22.2 was diagnosed by interphase fluorescent in-situ hybridisation (FISH) in a 31-week gestational age baby with cystic hygroma and hydrops; the duplication was later found in the mother and in her 8-year-old daughter by the same method and confirmed by array comparative genomic hybridisation (aCGH). All had the facial gestalt of Down syndrome (DS). This is the smallest accurately defined duplication of chromosome 21 reported with a DS phenotype. The duplication encompasses the gene DYRK1 but not DSCR1 or DSCAM, all of which have previously been implicated in the causation of DS. Previous karyotype analysis and telomere screening of the mother, and karyotype analysis and metaphase FISH of a chorionic villus sample, had all failed to...

First-trimester combined screening: experience with an instant results approach.

American Journal of Obstetrics and Gynecology — Sun, 17 Jun 2007 07:38:17 +0100

CONCLUSION: Patients were able to obtain instant results in 60.6% of cases, which appeared to increase the use of chorionic villus sampling. PMID: 17547916 [PubMed - in process] (Source: American Journal of Obstetrics and Gynecology)

Chorionic villus sampling and risk for hypertensive disorders of pregnancy.

American Journal of Obstetrics and Gynecology — Sun, 17 Jun 2007 07:38:17 +0100

CONCLUSION: Chorionic villus sampling at 10 to 13 weeks' gestational age does not appear to increase the overall risk for hypertensive disorders of pregnancy. However, there appears to be an association between chorionic villus sampling and severe hypertensive disorders including severe preeclampsia, eclampsia, and hemolysis, elevated liver enzymes, and low platelet count syndrome. PMID: 17547909 [PubMed - in process] (Source: American Journal of Obstetrics and Gynecology)

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Pain experience during chorionic villus sampling and amniocentesis: A preliminary study.

European Journal of Obstetrics, Gynecology, and Reproductive Biology — Thu, 10 May 2007 04:00:00 +0100

CONCLUSION: Transabdominal chorionic villus sampling with a 19 gauge Blache needle seems to be the most painful sampling procedure. We question the need to use a 19 gauge needle as acceptable results are obtained with a 20 gauge needle. PMID: 17499418 [PubMed - as supplied by publisher] (Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology)

Flow cytometric assessment of feto-maternal hemorrhage; a comparison with Betke-Kleihauer

Prenatal Diagnosis — Tue, 17 Apr 2007 04:00:00 +0100

Assessing the number of fetal cells in the maternal circulation quantifies the volume of feto-maternal hemorrhage, enhancing the ability to provide effective prevention of Rhesus (Rh) allommunization and appropriate fetal surveillance in cases of significant feto-maternal hemorrhage.Having developed a standard curve with maternal samples spiked with known volumes of fetal red blood cells, we used a flow cytometric method using fluorescent labeled antihemoglobin F to quantitate fetal cells in the maternal circulatory system in two groups of women undergoing chorionic villus sampling (CVS), by either biopsy forceps or cannula aspiration (n = 170 women). We compared these results with the gold standard, the Betke-Kleihauer test.Our results show good correlation between the flow cytometric met...

Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis

Prenatal Diagnosis — Tue, 17 Apr 2007 04:00:00 +0100

We review our experience using mutation analysis of the DHCR7 gene for prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive disorder of endogenous cholesterol biosynthesis caused by deficiency of 7-dehydrocholesterol reductase (DHCR7).Prenatal diagnosis of SLOS was conducted for 21 pregnancies involving 15 families. DNA was isolated directly from amniotic fluid cells or chorionic villus samples (CVS), and the DHCR7 gene was screened for the parental mutations using PCR-ARMS and nucleotide sequencing. Sixteen of the pregnancies were unaffected and five were affected. There have been no incidences of misdiagnosed pregnancies.DHCR7 mutation is a rapid and reliable method for prenatal diagnosis of SLOS, and provides an alternative to specialized biochemical tests for...

Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B

Prenatal Diagnosis — Thu, 22 Mar 2007 04:00:00 +0100

Autosomal dominant distal arthrogryposes (DAs) are a group of muscle diseases characterized by congenital contractures of the limbs. Currently, prenatal diagnosis of DAs depends upon ultrasound examination during late gestation. Recently, five genes encoding fast switch proteins located at 9p13.2, 11p15.5 and 17q13.1 were identified. These included TPM2, TNNI2/TNNT3, and MYH3/MYH8. Last year, we discovered a novel heterozygous mutation c.523_525delAAG (p.K175del) in the TNNI2 gene, which encodes the isoform of troponinI, in a seven-generation Chinese family affected with distal arthrogryposis type 2B (DA2B). Here, we report the molecular prenatal diagnosis of 3 high-risk fetuses of two women in the family by two-point linkage inferential analysis and deletion detection of the TNNI2 gene wi...

Preimplantation genetic diagnosis for cancer predisposition syndromes

Prenatal Diagnosis — Sat, 03 Mar 2007 05:00:00 +0100

Mutations in the APC, NF2 and BRCA1 genes cause adult-onset cancer predisposition syndromes. Prenatal diagnosis (PND) and selective pregnancy termination for adult-onset disorders is emotionally difficult and, in some cases, socially not well accepted. Preimplantation genetic diagnosis (PGD) appears as an attractive alternative to PND, as it ensures the establishment of a pregnancy free of the mutation from the onset, circumventing the potentially difficult decision of termination of pregnancy.Development of single-cell PCRs using Epstein-Barr virus transformed lymphoblasts as single-cell model, followed by clinical application in PGD.A total of five duplex-PCRs were developed, three for adenomatous polyposis of the colon (APC), one for neurofibromatosis type 2 (NF2) and one for inherited ...

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Congenital myotonic dystrophy: prenatal ultrasound findings and pregnancy outcome

Ultrasound in Obstetrics and Gynecology — Sat, 20 Jan 2007 05:00:00 +0100

The objective of this study was to assess the maternal and prenatal ultrasound findings and outcome in pregnancies complicated by congenital myotonic dystrophy Type 1 (DM1).A retrospective chart review of all patients with a diagnosis of DM1 and pregnancy presenting to the Oxford Radcliffe Hospital between 1990 and 2004 was undertaken. Obstetric case notes were reviewed and details of all pregnancies obtained. This included data on prenatal diagnostic tests and obstetric ultrasound scans performed as well as pregnancy complications and pregnancy outcome. Maternal and fetal CTG expansion size was also recorded where available. Maternal genetic case notes were reviewed for details of maternal grip myotonia.Sixty pregnancies among 26 couples in which one of the parents was a carrier of DM1 we...

Expression of p53/hgf/c-met/STAT3 signal in fetuses with neural tube defects

Virchows Archiv — Wed, 10 Jan 2007 08:00:01 +0100

In conclusion, in NTD fetuses, both the defective neural tube tissue and the placenta have a reduction in all components of the p53/HGF/c-met/STAT3 cascade. This raises the possibility of using the suppression of these genes for early diagnosis of NTD especially on chorionic villus sampling. Content TypeJournal Article JournalVirchows ArchivOnline ISSN 1432-2307Print ISSN 0945-6317 (Source: Virchows Archiv)

Electron microscopy of chorionic villus samples for prenatal diagnosis of lysosomal storage disorders.

Ultrastructural Pathology — Mon, 01 Jan 2007 05:00:00 +0100

Authors: Fowler DJ, Anderson G, Vellodi A, Malone M, Sebire NJ Some lysosomal storage disorders cause progressive prenatal accumulation of undegradable metabolites that manifest as membrane-bound vacuoles in endothelial cells, fibroblasts, and trophoblast, identifiable by electron microscopic examination of chorionic villus samples (CVS). There were 111 CVS, which had ultrastructural examination for suspected storage disorders at Great Ormond Street Hospital (1988-2005). There were 31 positive diagnoses, including glycogen storage disease type II, gangliosidosis type 1, mucopolysaccharidosis type 1, MPS not specified, Niemann-Pick type A, sialidosis/mucolipidosis type 1, neuronal ceroid lipofuscinoses (including variant forms), Wolman disease, sialic acid storage disease, and storage d...

Detection of fetomaternal hemorrhage following chorionic villus sampling by Kleihauer Betke test and rise in maternal serum alpha feto protein

Prenatal Diagnosis — Wed, 27 Dec 2006 07:00:00 +0100

To assess incidence and volume of fetomaternal hemorrhage (FMH) after chorionic villus sampling (CVS) by Kleihauer Betke test (KBT) and rise in maternal protein (MSAFP).A prospective study was conducted on 61 cases requiring CVS. FMH due to CVS was assessed by KBT and MSAFP.Out of 61 cases, 60 (98.36%) cases showed FMH by MSAFP while all showed FMH by KBT. Median volume of FMH detected by MSAFP was 0.06 mL (25 to 75th interquartile (IQR) 0.01 to 0.12 mL) and by KBT was 0.45 mL (25 to 75th IQR 0.09 to 0.90). Mean volume of FMH detected by MSAFP was 0.1 + 0.1424 mL and by KBT was 0.58 + 0.637 mL. Significant FMH up to 0.1 mL was found in 20 (32.8%) and 45 (60.6%) by MSAFP and KBT respectively.MSAFP and KBT are sensitive to detect FMH. KBT estimates more FMH than MSAFP. Fifty micrograms of an...

Nuchal translucency screening: how do women actually utilize the results?

Prenatal Diagnosis — Thu, 07 Dec 2006 07:00:00 +0100

To examine how women use the nuchal translucency (NT) risk adjustment in decision-making for invasive prenatal diagnosis.Retrospective cohort study of 1083 consecutive NT screening exams. A screen-positive test was defined as a risk [ge] 1/300. Primary outcome was what proportion of screen-positive or screen-negative women chose to undergo chorionic villus sampling or amniocentesis.Of the women tested, 79% (858/1083) were [ge] 35-years-old and 88% (756/858) of these women had a decrease in age-related risk after NT. Of the screen-negative women, 31% (238/756) [ge] 35 years of age chose to have invasive testing as compared to only 11.2% (25/223) of those < 35 years of age (p < 0.001). Of the screen-positive women, 71% (72/102) [ge] 35 years of age and 100% (2/2) < 35 years of age chose to o...

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[Molecular Diagnostics and Genetics] Hypermethylated RASSF1A in Maternal Plasma: A Universal Fetal DNA Marker that Improves the Reliability of Noninvasive Prenatal Diagnosis

Clinical Chemistry — Thu, 30 Nov 2006 07:00:00 +0100

Conclusions: Hypermethylated RASSF1A is a universal marker for fetal DNA and is readily detectable in maternal plasma. When applied to prenatal RhD genotyping, this marker allows the detection of false-negative results caused by low fetal DNA concentrations in maternal plasma. This new marker can also be applied to many other prenatal diagnostic and monitoring scenarios. (Source: Clinical Chemistry)

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

Prenatal Diagnosis — Mon, 30 Oct 2006 20:42:02 +0100

We report a case of chromosome 8 trisomy in a human embryo examined at Carnegie stage 11 (25 days post-fertilization). It presented severe cardiovascular and central nervous system malformations.The unusual bifid heart in this embryo spurred a detailed histological examination, karyotyping of a chorionic villus sample and subsequent FISH on inter-phase nuclei of intra-embryonic sections.Trophoblast cells had a karyotype of 47,XX, +8. Within the embryo proper, FISH demonstrated that the trisomy 8 was homogeneous in embryonic as well as extra-embryonic tissues. FQ-PCR supports a meiosis I origin of non-disjunction. In sections, the pharyngeal arches (including cardiac outflow tract), forebrain, mesonephros and liver were absent. Somites and yolk sac blood vessels were irregularly shaped.We s...

Prenatal diagnosis of haemophilia A by chorionic villus sampling and cordocentesis: All India Institute of Medical Science experience

Vox Sanguinis — Tue, 24 Oct 2006 12:56:44 +0100

Vox Sanguinis Volume 0, Issue 0, Page ???-???. (Source: Vox Sanguinis)

Use of prenatal diagnostic procedures in pregnancies affected with birth defects, Hawaii, 1986-2002

Birth Defects Research Part A: Clinical and Molecular Teratology — Wed, 04 Oct 2006 06:00:00 +0100

Information on the utilization of prenatal ultrasound (US), amniocentesis (AC), and chorionic villus sampling (CVS) in pregnancies affected by birth defects in the United States is limited. The intent of this study was to report on the utilization of these procedures in Hawaii.Cases were all infants and fetuses of any pregnancy outcome with birth defects, included in a Hawaii birth defects registry, and delivered during 1986-2002. The rates of prenatal US, AC/CVS, and prenatal diagnosis were calculated.Prenatal US was performed in 76% of the cases and AC/CVS in 14% of the cases. Prenatal diagnosis of a birth defect was made in 16% of the cases. The prenatal US, AC/CVS, and prenatal diagnosis rates in 1998-2002 were 1.5, 1.5, and 1.7 times the rates in 1986-1991, respectively. Among all bir...

Chorionic villus sampling for beta-thalassemia: the first report of experience in Iran

Prenatal Diagnosis — Sat, 30 Sep 2006 04:39:01 +0100

Beta-thalassemia is one of the most common hereditary disorders in Iran. The prenatal diagnosis of beta-thalassemia is part of a control program in our country and it began 13 years ago. During the past 8 years the number of procedures has increased significantly as also the legal abortions. This is the first report made on the CVS program in Iran.One thousand six hundred and sixty-one cases of transabdominal Chorionic Villus Sampling (CVS) have been retrospectively evaluated. Among them 1381 cases had inclusion criteria. CVS results, complications and fetal loss rate were evaluated. The distributions of the population at risk were divided between eight regions that have been proposed for beta-thalassemia mapping previously.The mean age of the patients was 26.2 ± 5.2 years with mean gesta...

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Maternal Complications and Procedures in Pregnancy and at Birth and Wheezing Phenotypes in Children.

Am J Respir Crit Car... — Wed, 27 Sep 2006 05:17:02 +0100

Conclusions: Some maternal complications during pregnancy and at delivery may increase the risk of developing different phenotypes of wheezing in childhood. PMID: 16998092 [PubMed - as supplied by publisher] (Source: Am J Respir Crit Car...)

Validation of QF-PCR for prenatal aneuploidy screening in the United States

Prenatal Diagnosis — Tue, 26 Sep 2006 22:56:01 +0100

QF-PCR is an inexpensive and reliable method for aneuploidy screening; however, despite its obvious advantages, it is not in routine use in the United States. Our objective in the present study was to validate QF-PCR as a means for prenatal aneuploidy screening in our institution.A QF-PCR assay using 15 primer pairs located on chromosomes 13, 18, 21 X and Y was established for aneuploidy screening. Amniotic fluid (AF) and chorionic villus sampling (CVS) samples consisting only of the cells recovered from the plasticware discarded by our institutional cytogenetics laboratory were collected and DNA was prepared by a simple and inexpensive microwave procedure. QF-PCR was then performed and interpreted using established criteria.687 consecutive prenatal samples were screened in a blinded prosp...

First-trimester prenatal diagnosis in haemophilia A and B families - 10 years experience from a centre in India

Prenatal Diagnosis — Tue, 26 Sep 2006 22:56:01 +0100

During the last 10 years (1995-2005) we have offered diagnosis in 438 families out of 502 families referred, by chorionic villus sampling procedure between 10 and 12 weeks of pregnancy in severe haemophilia A and B families. Sixty four families could not be offered a diagnosis in the first trimester either due to non-informativeness with the available techniques or due to the absence of affected members in the family and were subsequently offered diagnosis in the second trimester by direct analysis of factor VIII/IX clotting activity and antigen in the fetal blood samples. For first-trimester diagnosis in the chorionic villus samples, we have used both direct and indirect methods, that is, intron 22 and 1 inversions in the factor VIII gene, a multiplex PCR for the detection of gross deleti...

Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis

Prenatal Diagnosis — Tue, 26 Sep 2006 22:56:01 +0100

Cystic fibrosis (CF) is an autosomal recessive disease due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The purpose of this study was to develop a molecular method to characterise both paternal and maternal CFTR alleles in DNA from circulating fetal cells (CFCs) isolated by ISET (isolation by size of epithelial tumour/trophoblastic cells).The molecular protocol was defined by developing the F508del mutation analysis and addressing it both to single trophoblastic cells, isolated by ISET and identified by short tandem repeats (STR) genotyping, and to pooled trophoblastic genomes, thus avoiding the risk of allele drop out (ADO). This protocol was validated in 100 leucocytes from F508del carriers and subsequently blindly applied to the blood (5 mL) of 12...

Prenatal diagnosis of [beta]-thalassemia in Southern Punjab, Pakistan

Prenatal Diagnosis — Tue, 26 Sep 2006 22:56:01 +0100

In this study, we initiated awareness, screening, and characterization of the mutations causing [beta]-thalassemia as well as a genetic counseling program mainly in the districts of Faisalabad and D.G. Khan to establish prenatal diagnosis, a facility previously unavailable in this region for disease prevention. A total of 248 unrelated transfusion-dependent children and the available members of their families were screened to characterize the mutations and identify the carriers. Genetic counseling was provided to these families and prenatal diagnosis offered. In the samples analyzed, 11 [beta]-thalassemia mutations and three hemoglobin variants were detected mainly by using the Monoplex and Multiplex ARMS-PCR. First-trimester prenatal diagnosis was carried out through chorionic villus samp...

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Prenatal Diagnostic Tests Have Lower Risk Of Miscarriage Than Previously Thought, Study Shows

Pregnancy News From Medical News Today — Tue, 05 Sep 2006 00:00:00 +0100

Pregnant women who seek prenatal diagnostic testing to identify genetic or chromosomal abnormalities have a lower risk of miscarriage than previously believed, according to a UCSF study.The findings are published in the September 2006 issue of the journal "Obstetrics and Gynecology."Two standard tests--amniocentesis and chorionic villus sampling (CVS)--are common prenatal tests performed during the first and second trimester of pregnancy. [click link for full article] (Source: Pregnancy News From Medical News Today)

Risk of prenatal CVS same as amniocentesis: study

Reuters: Health — Thu, 31 Aug 2006 13:23:45 +0100

LOS ANGELES (Reuters) - The risk of miscarriage after undergoing chorionic villus sampling, or CVS, to detect birth defects is lower than previously thought and essentially carries the same risk than the more commonly used amniocentesis, according to new research. (Source: Reuters: Health)

Striking Facial Dysmorphisms and Restricted Thymic Development in a Fetus with a 6-Megabase Deletion of Chromosome 14q

Pediatric and Developmental Pathology — Thu, 13 Oct 2005 07:06:50 +0100

During routine ultrasound screening at 12 weeks 5 days of gestation, a nuchal translucency of 7 mm, an omphalocele, and fetal hydrops were found and prompted chorionic villus sampling at 13 weeks 2 days. Chromosome analysis showed an unbalanced karyotype with an abnormal chromosome 14. The mother was a carrier of a translocation karyotype 46,XX,t(13;14) (q34;q32.2). In the fetus this gave rise to a partial trisomy 13q and partial monosomy 14q (fetal karyotype: 46,XX,der[14]t[13;14][q34;q32.2]). By Array-CGH on DNA extracted from a postmortem skin culture, a duplication of approximately 1.7 Mbp of the distal part of chromosome 13q34 and a deletion of approximately 6.0 Mbp of the distal part of chromosome 14q32.2 was demonstrated. Postmortem findings after termination of pregnancy at 14 week...

Invasive genetic diagnosis in multiple pregnancies.

Obstetrics and Gynecology Clinics of North America — Mon, 14 Mar 2005 07:00:00 +0100

Authors: Appelman Z, Furman B Chromosomal anomalies and mendelian diseases are more frequent in multiple gestations than in singletons. Prenatal diagnosis is recommended in multiple pregnancies whenever indicated. Invasive testing using amniocentesis or chorionic villus sampling can be performed safely. Chorionic villus sampling has a significant advantage over amniocentesis because it offers rapid karyotyping and biochemical and DNA studies at an early stage of pregnancy. Only experienced centers should perform these procedures because of the technical aspects and the expertise needed in handling discordant results. PMID: 15644292 [PubMed - indexed for MEDLINE] (Source: Obstetrics and Gynecology Clinics of North America)