MedWorm: Chorionic Villus Sampling

Prenatal diagnosis for haemophilia: a nationwide survey among female carriers in the Netherlands

Haemophilia — Wed, 18 Jan 2012 05:00:00 +0100

Summary. Carriers of haemophilia face difficult choices regarding prenatal diagnosis, but little is known about the determinants that influence their decisions. The aim of this study was to assess the incidence of prenatal diagnosis and potential determinants affecting the choice for prenatal diagnosis. A nationwide survey was performed among all women who underwent carriership testing for haemophilia in the Netherlands between 1992 and 2004. Prenatal diagnosis was assessed in 207 carriers of haemophilia A or B who had been pregnant. Prenatal diagnosis was categorized into early first trimester (Y‐PCR testing or chorionic villus sampling) often intended to prevent the birth of a child with haemophilia, and into late prenatal diagnosis (amniocentesis or ultrasound assessment) aimed at ...

MedWorm Sponsor Message: Find the best January Sales in the UK.

Similar risk for hemangiomas after amniocentesis and transabdominal chorionic villus sampling

Journal of Obstetrics and Gynaecology Research — Tue, 10 Jan 2012 05:00:00 +0100

Conclusion: These results suggest that TA‐CVS does not cause an increase in the prevalence of hemangioma compared to amniocentesis. A larger series is, however, necessary to confirm this. (Source: Journal of Obstetrics and Gynaecology Research)

Rare case of XX/XY mosaicism and trisomy 13 in early prenatal diagnosis

Birth Defects Research Part A: Clinical and Molecular Teratology — Sun, 01 Jan 2012 05:00:00 +0100

AbstractCoexistence of XX/XY sex mosaicism and autosomal trisomy in prenatal diagnosis is particularly rare. Herein, we report the first, to our knowledge, case of a fetus with cyclopia, ambiguous genitalia and a 47,XX,+13,inv9[47]/47,XY,+13[13] karyotype detected at 13 weeks of gestation after chorionic villus sampling. Molecular analysis after prenatal diagnosis suggests that this is a case of sex mosaicism coexisting with trisomy 13, rather than chimera. Birth Defects Research (Part A), 2012. © 2012 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)

Prenatal diagnosis of xeroderma pigmentosum group A in Japan

The Journal of Dermatology — Wed, 14 Dec 2011 05:00:00 +0100

AbstractWe performed a prenatal diagnosis for 10 fetuses from nine unrelated Japanese xeroderma pigmentosum complementation group A (XP‐A) families. All parents had at least one XP‐A child (proband) with a homozygous founder mutation (IVS3‐1G>C) in the XPA gene. A genetic analysis was performed by a restriction enzyme; AlwNI fragment length polymorphism of polymerase chain reaction (PCR)‐amplified DNA, mostly from amniotic fluid (AF) and cultured cells established from AF. However, for the first family, we tried amniocentesis as well as chorionic villus sampling (CVS). Among the 10 cases, we confirmed the results of PCR‐based genetic diagnosis by post‐ultraviolet survival of amniotic cells in eight cases. Unfortunately, 6 weeks after CVS and 4 days after the amniocentesi...

Pregnancy Loss after Chorionic Villus Sampling and Genetic Amniocentesis in Twin Pregnancies‐ a Systematic Review

Ultrasound in Obstetrics and Gynecology — Mon, 28 Nov 2011 05:00:00 +0100

AbstractObjective:To review the available evidence regarding pregnancy loss following first trimester chorionic villus sampling (CVS) and mid‐trimester genetic amniocentesis in twins.Methods:We searched the MEDLINE database from Jan 1990 to May 2011 for randomized and the cohort studies reporting on the risk of pregnancy loss after first trimester CVS performed between 9‐14 weeks and genetic amniocentesis between 14‐22 weeks. Where appropriate, we have calculated pooled proportions and relative risks with 95% confidence intervals.Results:No randomized studies were found. For CVS, nine studies fulfilled the inclusion criteria. The overall pregnancy loss rate was 3.84% (CI95 2.48% to 5.47%; n = 4). The rate of pregnancy loss before 20 weeks was 2.75% (CI951.28% to 4.75%; n = 3) and bef...

Pregnancy Loss after Chorionic Villus Sampling and Genetic Amniocentesis in Twin Pregnancies- a Systematic Review.

The Ultrasound Review of Obstetrics and Gynecology — Mon, 28 Nov 2011 05:00:00 +0100

Authors: Agarwal K, Alfirevic Z Abstract OBJECTIVE: To review the available evidence regarding pregnancy loss following first trimester chorionic villus sampling (CVS) and mid-trimester genetic amniocentesis in twins. METHODS: We searched the MEDLINE database from Jan 1990 to May 2011 for randomized and the cohort studies reporting on the risk of pregnancy loss after first trimester CVS performed between 9-14 weeks and genetic amniocentesis between 14-22 weeks. Where appropriate, we have calculated pooled proportions and relative risks with 95% confidence intervals. RESULTS: No randomized studies were found. For CVS, nine studies fulfilled the inclusion criteria. The overall pregnancy loss rate was 3.84% (CI(95) 2.48% to 5.47%; n = 4). The rate of pregnancy loss before 20 weeks was...

MedWorm Sponsor Message: Please support the Doctors In Chains campaign for the medics tortured and sentenced for up to 15 years in Bahrain. #FreeDoctors

Analgesia for amniocentesis or chorionic villus sampling.

Cochrane Database of Systematic Reviews — Sun, 20 Nov 2011 22:06:03 +0100

CONCLUSIONS: In general, women who undergo amniocentesis could be informed that pain during procedure is minor and that there is currently insufficient evidence to support the use of local anaesthetics, leg rubbing or subfreezing the needle for pain reduction during procedure. PMID: 22071854 [PubMed - in process] (Source: Cochrane Database of Systematic Reviews)

Children’s in the news: Brian Skotko writes Op-Ed for USA Today

Thrive, Children's Hospital Boston — Tue, 15 Nov 2011 16:44:59 +0100

Brian Skotko, MD, MPP, a physician at Children’s Hospital Boston’s Down Syndrome Program, recently wrote an Op-Ed piece for USA Today, where he addresses concerns raised by a new, easy to administer blood test that can screen for Down syndrome in-utero. In the piece, Skotko wonders what effect the simple and affordable test will have on the birth rates of children with Down syndrome and discusses his own research that shows that a majority of families living with a Down syndrome family member cite the experience as positive. In mid-October, pregnancy as we know it forever changed in America. The company Sequenom announced that with a simple blood draw at 10 weeks of gestation, a pregnant woman can now learn with near 99% accuracy whether her fetus has Down syndrome. … With these new ...

Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases

Prenatal Diagnosis — Fri, 28 Oct 2011 04:00:00 +0100

ConclusionsThis study demonstrates that aCGH represents an improved diagnostic tool for prenatal detection of chromosomal abnormalities. Although larger studies are needed, our results provide further evidence on the feasibility of introducing aCGH as a first‐line diagnostic test in routine prenatal diagnosis practice. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

Meeting patients' education and decision‐making needs for first trimester prenatal aneuploidy screening

Prenatal Diagnosis — Mon, 24 Oct 2011 04:00:00 +0100

ConclusionFirst trimester aneuploidy screening generates education and decision‐making benchmarks for patients and providers. It is important to address these barriers as this new screen becomes a growing part of current prenatal genetic testing offerings. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: Experiences from India.

Indian J Med Res — Sat, 01 Oct 2011 04:00:00 +0100

Authors: Colah RB, Gorakshakar AC, Nadkarni AH Abstract The thalassaemias and sickle cell disease are the commonest monogenic disorders in India. There are an estimated 7500 - 12,000 babies with β-thalassaemia major born every year in the country. While the overall prevalence of carriers in different States varies from 1.5 to 4 per cent, recent work has shown considerable variations in frequencies even within States. Thus, micromapping would help to determine the true burden of the disease. Although screening in antenatal clinics is being done at many centres, only 15-20 per cent of pregnant women register in antenatal clinics in public hospitals in the first trimester of pregnancy. There are only a handful of centres in major cities in this vast country where prenatal diagnosis i...

MedWorm Sponsor Message: Find the best January Sales in the UK.

Persistence of a monosomic cell line in a fetus with mosaic trisomy 8

American Journal of Medical Genetics Part A — Mon, 19 Sep 2011 04:00:00 +0100

We report on a fetus presenting with an increased nuchal translucency, in which chorionic villus sampling led to the diagnosis of mosaic trisomy 8. Ultrasound scan performed at 15+6 weeks revealed bilateral cleft lip and palate, flat facial profile, and arrhinia. Pregnancy was terminated at 16+6; postmortem examination showed additional findings including hypospadias, bilateral renal dysplasia, and focal portal fibrosis of the liver. In order to confirm the presence of trisomy 8, FISH analysis was performed in abnormal renal and hepatic tissue, which, unexpectedly, showed a higher fraction of cells with only one fluorescent probe signal (43% and 23%, respectively), if compared with normal fetal liver and kidney (3–10%). This finding is consistent with the survival in this fetus of a mono...

Pregnancy outcome in carriers of Robertsonian translocations

American Journal of Medical Genetics Part A — Fri, 09 Sep 2011 04:00:00 +0100

AbstractRobertsonian translocation carriers are at increased risk for infertility, spontaneous abortions, or chromosomally unbalanced offspring. Reproductive counseling of these carriers is challenging.We performed a retrospective analysis of all prenatal diagnoses from Robertsonian translocation carriers during the time period January 1, 1992 through December 31, 2007. Data on the carriers and the results of their prenatal analyses were retrieved as well as data on their previous pregnancies.We identified 28 female and 20 male carriers of Robertsonian translocations and results on 79 prenatal samples were obtained. Among female carriers, 10.3% of chorionic villus sampling and 5.9% of amniocentesis results were unbalanced, whereas for male carriers, this was 3.6% and 0%, respectively. When...

Fetal Gender Test Determines Sex Of Fetus At 7 Weeks Gestation

Health News from Medical News Today — Tue, 09 Aug 2011 23:00:00 +0100

A non-invasive test can tell whether a 7 week fetus is a boy or girl, researchers reported in JAMA (Journal of the American Medical Association). The authors say the test may help in the early diagnosis of genetic diseases on the X chromosomes, diseases that affect males only. Doctors today usually diagnose X-linked diseases before birth via amniocentesis or chorionic villus sampling, invasive tests that raise the risk of miscarriage. The fetal gender test does not diagnose X-linked diseases... (Source: Health News from Medical News Today)

Non-invasive prenatal diagnosis: progress so far

Obstetrics, Gynaecology and Reproductive Medicine — Sat, 23 Jul 2011 20:18:33 +0100

The prenatal diagnosis or exclusion of aneuploidy and single gene disorders has necessitated invasive testing by chorionic villus sampling or amniocentesis. The current use of ultrasound and biochemical markers provides screening but not diagnostic testing for these conditions. The risk of procedure related miscarriage is well recognized, along with the physical discomfort and the mental anguish many couples experience when deciding whether to accept the offer of invasive testing. For these reasons, the ‘holy grail’ of prenatal diagnosis has been to find non-invasive techniques which avoid these risks and discomfort. (Source: Obstetrics, Gynaecology and Reproductive Medicine)

Incidence of placental mosaicism leading to discrepant results between QF‐PCR and karyotyping in 22,825 chorionic villus samples

Prenatal Diagnosis — Wed, 13 Jul 2011 23:00:00 +0100

ConclusionThis retrospective study of placental mosaicism in CVS is the largest single centre study to date and provides a figure for the occurrence of completely discrepant results between QF–PCR and karyotype due to placental mosaicism. This study also demonstrates that the presence of triallelic peaks at QF–PCR is not sufficient to exclude the presence of placental mosaicism. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

MedWorm Sponsor Message: Please support the Doctors In Chains campaign for the medics tortured and sentenced for up to 15 years in Bahrain. #FreeDoctors

Bridging global gene expression candidates in first trimester placentas with susceptibility loci from linkage studies of preeclampsia

Journal of Perinatal Medicine — Thu, 30 Jun 2011 23:00:00 +0100

Journal of Perinatal Medicine 39 (4): 361-368 Abstract Preeclampsia is as a leading cause of maternal and perinatal morbidity and mortality. Prevention, early identification, and individualized treatments may become feasible if reliable early biomarkers can be developed. Towards a systems biology framework, this review synthesizes prior linkage studies and genome scans of preeclampsia with candidates identified in a global gene expression microarray analysis of chorionic villus sampling (CVS) specimens from women who sub-sequently developed preeclampsia. Nearly 40% of these CVS candidate genes occurred in previously identified susceptibility loci for preeclampsia. Integration of genetic epidemiologic and functional gene expression data could help to elucidate preeclampsia as a complex dise...

Prenatal diagnosis of trisomy 9.

Singapore Medical Journal — Thu, 30 Jun 2011 23:00:00 +0100

We present a foetus affected by trisomy 9, a rare chromosomal disorder, which was diagnosed in a low-risk patient during the first trimester of pregnancy. The finding of multiple structural foetal anomalies at the first trimester screening prompted chorionic villus sampling. Evaluation of the quantitative fluorescent polymerase chain reaction was normal, but the final karyotype result revealed a diagnosis of trisomy 9. First trimester screening for detection of foetal anomalies is highly effective. Although rapid molecular methods are available for prenatal diagnosis of common autosomal and sex chromosome aneuploidies, it is essential to obtain a full karyotype in order to exclude the less commonly encountered chromosomal abnormalities. PMID: 21808948 [PubMed - in process] (Source: Sin...

The transvaginal probe as a uterine manipulator: a new technique to simplify transabdominal chorionic villus sampling in cases with difficult access to the trophoblast

Prenatal Diagnosis — Sun, 26 Jun 2011 23:00:00 +0100

ConclusionsUterine manipulation with the transvaginal probe may be a useful solution in cases where TA‐CVS is limited by difficult access to the trophoblast. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

Holoprosencephaly at prenatal diagnosis: analysis of 28 cases regarding etiopathogenic diagnoses

Prenatal Diagnosis — Sun, 26 Jun 2011 23:00:00 +0100

ConclusionsOur results showed that a definitive etiology can be established in most cases of prenatal holoprosencephaly. Chromosomal anomalies were the most frequent finding. However, in euploid fetuses, molecular diagnosis is worthwhile, as different genes with different inheritance patterns may be responsible for this malformation. Thorough evaluation proved beneficial for assessing more accurate prognosis and recurrence risks. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

[Reflections on the "feasibility of chorionic villus sampling outside referral prenatal diagnosis centers"]

Journal de Gynecologie, Obstetrique et Biologie de la Reproduction — Sun, 12 Jun 2011 23:00:00 +0100

[Reflections on the "feasibility of chorionic villus sampling outside referral prenatal diagnosis centers"] J Gynecol Obstet Biol Reprod (Paris). 2011 Jun 13; Authors: Saura R, Toutain J, Horovitz J PMID: 21676556 [PubMed - as supplied by publisher] (Source: Journal de Gynecologie, Obstetrique et Biologie de la Reproduction)

MedWorm Sponsor Message: Find the best January Sales in the UK.

Prenatal diagnosis of familial lethal hypophosphatasia using imaging, blood enzyme levels, chorionic villus sampling and archived fetal tissue

Journal of Obstetrics and Gynaecology Research — Wed, 11 May 2011 23:00:00 +0100

AbstractHypophosphatasia is an inheritable disorder characterized by defective bone mineralization and a deficiency of tissue‐nonspecific alkaline phosphatase (TNSALP) activity. Screening for mutations in the TNSALP gene allows genetic counseling and prenatal diagnosis of the disease in families with severe forms of hypophosphatasia. A 33‐year‐old, gravida 4, para 3 Japanese woman was referred to Nagoya City University Hospital for prenatal genetic counseling because of two previous occurrences of fetal bone anomalies. The molecular examination showed that the fetus was homozygous for the TNSALP gene mutation c.1559delT, each parent being heterozygous. Genetic counseling was offered and at the next pregnancy, chorionic villus sampling was performed, whereupon genetic analysis confirm...

Chorionic villus sampling and the thalassemia trait: which relationship with pre-eclampsia?

BJOG : An International Journal of Obstetrics and Gynaecology — Sat, 30 Apr 2011 23:00:00 +0100

Authors: Maruotti G, Agangi A, Martinelli P PMID: 21481138 [PubMed - in process] (Source: BJOG : An International Journal of Obstetrics and Gynaecology)

Too Much Information? Noninvasive Genetic Tests for the Unborn

Scientific American Topic - Medical Technology — Wed, 13 Apr 2011 13:00:00 +0100

Today expectant parents concerned about the diseases that could afflict their unborn children don’t have a lot of options. Blood tests can determine whether parents carry mutations for such genetic diseases as cystic fibrosis and Tay-Sachs, but they can’t determine whether the baby will inherit them. And although fetuses can be tested for Down syndrome and other chromosomal abnormalities using amniocentesis or chorionic villus sampling, about 1 percent of procedures cause miscarriage, so many moms opt out. But thanks to a handful of recent breakthroughs, noninvasive prenatal tests may soon be available that diagnose genetic diseases before birth using samples of a mother’s blood--an exciting possibility that also raises difficult questions about how they should be regulat...

Chorionic villus sampling and the thalassemia trait: which relationship with pre‐eclampsia?

BJOG: An International Journal of Obstetrics and Gynaecology — Tue, 12 Apr 2011 21:16:02 +0100

(Source: BJOG: An International Journal of Obstetrics and Gynaecology)

Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade

European Journal of Obstetrics, Gynecology, and Reproductive Biology — Wed, 06 Apr 2011 23:00:00 +0100

In conclusion, performing the karyotype on amniotic fluid samples is a good method for the detection of chromosome abnormalities during pregnancy. The number of cytogenetic studies on amniotic fluid has now decreased, however, due to the implementation of first trimester prenatal screening for the detection of Down syndrome, which allows karyotyping on chorionic villus samples. Our results also show that both ultrasound abnormalities and increased nuchal translucency are excellent clinical indicators for fetal chromosome abnormality. (Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology)

Fetal oromandibular limb hypogenesis syndrome following uterine curettage in early pregnancy

Birth Defects Research Part A: Clinical and Molecular Teratology — Thu, 31 Mar 2011 23:00:00 +0100

CONCLUSIONS:This case is consistent with previous hypotheses concerning the role of hypoxic trauma in inducing fetal structural defects in early pregnancy. Birth Defects Research (Part A), 2011. © 2011 Wiley‐Liss, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)

Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non‐selective application of a MLPA‐based extended prenatal panel in routine prenatal diagnosis

Prenatal Diagnosis — Wed, 30 Mar 2011 03:42:51 +0100

ConclusionsOur data represent the largest published series involving this type of genomic analysis in routine prenatal diagnosis, without indication bias. The panel increases significantly the diagnostic yield of conventional PCD and does not pose interpretation problems. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

Gene Expression in First Trimester Preeclampsia Placenta

Biological Research For Nursing — Tue, 15 Mar 2011 00:00:00 +0100

Conclusions. This study corroborates reduced FSTL3 expression in the first trimester of preeclampsia. Nonsignificant trends in the other genes may require follow-up in studies powered for medium or medium/large effect sizes. qRT-PCR verification of the prior microarray of CVS may support the placental origins of preeclampsia hypothesis. Replication is needed for the candidate genes as potential biomarkers of susceptibility, early detection, and/or individualized care of maternal—infant preeclampsia. (Source: Biological Research For Nursing)

MedWorm Sponsor Message: Find the best January Sales in the UK.

Role of the vascular endothelial growth factor in the inverse relationship between increased nuchal translucency thickness and fetomaternal transfusion

Journal of Perinatal Medicine — Fri, 11 Mar 2011 01:30:16 +0100

Journal of Perinatal Medicine 39 (2): 157-161 Abstract Objective: To elucidate the possible etiological role of the vascular endothelial growth factor (VEGF) in the inverse correlation between nuchal translucency (NT) thickness and fetomaternal transfusion (FMT). Methods: The level of FMT was determined prospectively in 80 viable, singleton pregnancies in which 10–14-week ultrasonographic scanning, NT thickness measurement; chorionic villus sampling (CVS) for fetal karyotyping and VEGF concentration determination were performed. The grouping procedures were based either on NT thickness ( (Source: Journal of Perinatal Medicine)

Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype

Ultrasound in Obstetrics and Gynecology — Fri, 11 Mar 2011 00:00:00 +0100

ConclusionaCGH allows detection of submicroscopic chromosomal abnormalities, the prevalence of which may be increased in fetuses with NT > 3.5 mm and an apparently normal karyotype. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd. (Source: Ultrasound in Obstetrics and Gynecology)

Feasibility of DNA diagnosis of haemoglobinopathies on coelocentesis

British Journal of Haematology — Tue, 08 Mar 2011 00:00:00 +0100

SummaryAt 5–12 weeks of gestation the amniotic sac is surrounded by celomic fluid, which contains cells of fetal origin. This fluid can be sampled by celocentesis, which involves the ultrasound‐guided insertion of a needle through the vagina. The aim of this study was to examine the feasibility of prenatal diagnosis of haemoglobinopathies from the celomic fluid using a specific protocol. Celocentesis was performed at 7–9 weeks gestation in 26 singleton pregnancies at risk for haemoglobinopathies. In 25 cases more than 30 fetal cells were recovered from the celomic fluid and in all these cases molecular analysis for haemoglobinopathies was possible and the results were confirmed by subsequent chorionic villus sampling or amniocentesis. The results of this study suggest that reliab...

New blood test for Down’s syndrome?

NHS News Feed — Mon, 07 Mar 2011 11:57:00 +0100

Conclusion This small study shows promise in the development of a non-invasive method for detecting Down’s syndrome pregnancies. Currently, the condition is diagnosed prenatally using invasive methods that carry a risk of miscarriage, such as amniocentesis and chorionic villus sampling. The discovery of foetal DNA in the maternal bloodstream has led scientists to investigate whether genetic diseases can be diagnosed using a maternal blood test, thus avoiding the need for an invasive test and the associated risks. This is the latest in a number of studies investigating such tests. This genetic test shows promise in this early trial, identifying foetuses with Down’s syndrome with 100% accuracy. However, only 14 foetuses with Down’s were included in the blinded part of the trial. Furthe...

Simple blood test for Down's syndrome is on its way, say scientists

Guardian Unlimited Science — Sun, 06 Mar 2011 18:00:00 +0100

Announcement made by researchers looking to replace current risky procedure that causes 1% of women tested to miscarryScientists have developed a blood analysis that tells expectant mothers if they are carrying a child with Down's syndrome and hope to offer the test to all pregnant women.The test could replace existing surgical techniques used to diagnose the genetic disorder in unborn babies. These techniques cause about one in 100 women to miscarry.Researchers say the new test will be cheap and simple enough for doctors working in most clinics to screen any pregnant woman who requests it.In a blind study of blood samples taken from 40 pregnant women, the test correctly identified 14 cases of Down's syndrome with no false positives, though a larger clinical trial is needed to validate the...

MedWorm Sponsor Message: Please support the Doctors In Chains campaign for the medics tortured and sentenced for up to 15 years in Bahrain. #FreeDoctors

Non‐invasive tool for foetal sex determination in early gestational age

Haemophilia — Tue, 01 Mar 2011 00:00:00 +0100

Summary. Free foetal DNA in maternal blood during early pregnancy is an ideal source of foetal genetic material for non‐invasive prenatal diagnosis. The aim of this study was to evaluate the use of free foetal DNA analysis at early gestational age as pretest for the detection of specific Y‐chromosome sequences in maternal plasma of women who are carriers of X‐linked disorders, such as haemophilia. Real‐time quantitative PCR analysis of maternal plasma was performed for the detection of the SRY or DYS14 sequence. A group of 208 pregnant women, at different gestational periods from 4 to 12 weeks, were tested to identify the optimal period to obtain an adequate amount of foetal DNA for prenatal diagnosis. Foetal gender was determined in 181 pregnant women sampled throughout pregn...

Analysis of cosegregation of intragenic DNA sequence variations as markers of maternal cell contamination in prenatal diagnosis of β-thalassemia.

Translational Research : the journal of laboratory and clinical medicine — Mon, 28 Feb 2011 20:00:08 +0100

Authors: Saadi AV, Girisha KM, Gopinath PM, Satyamoorthy K Prenatal diagnosis of 3 HBB gene mutations causing β-thalassemia and hemoglobin D Punjab segregated in a South Indian nuclear family is reported along with a method identified as control for maternal cell contamination (MCC). Amplicons of the HBB gene from genomic DNA obtained from the blood of a thalassemic first child (proband), both parents, and a chorionic villus sample of their second pregnancy were directly sequenced. A test for MCC was performed by genotyping polymorphic microsatellite markers (D21S11 and D21S1270) by quantitative fluorescence polymerase chain reaction (QF-PCR) and capillary gel electrophoresis. The pedigree analysis showed proband as a compound heterozygote of NG_000007.3:g.70691G>C and NG_000007.3:...

Clinical Trial of Multiplanar Real-time 4- Versus 2-Dimensional Sonographic Guidance for Transcervical Chorionic Villus Sampling

Journal of Ultrasound in Medicine — Fri, 25 Feb 2011 00:00:00 +0100

Conclusions— Our findings show the feasibility of 4D guidance for transcervical CVS, although at the expense of a prolonged procedure time when compared to 2D sonographic guidance. The value of 4D guidance for less experienced operators remains to be determined. (Source: Journal of Ultrasound in Medicine)

Chorionic villus sampling and the risk of preeclamspia: a systematic review and meta-analysis

Archives of Gynecology and Obstetrics — Sat, 22 Jan 2011 20:12:02 +0100

Conclusion None of the included studies were randomized prospective trials designed to investigate the effect of CVS on preeclampsia. Accordingly, this review is limited by the heterogeneity, small number and retrospective nature of the available studies. CVS does not seem to increase the risk of preeclampsia or other pregnancy-induced hypertensive disorders. However, randomized prospective trials that are designed to investigate the risk of preeclampsia after CVS are needed to make a definite conclusion. Content Type Journal ArticlePages 1-7DOI 10.1007/s00404-011-1840-yAuthors Ahmet Basaran, Department of Obstetrics and Gynecology, ACIBADEM Kayseri Hospital, Kayseri, TurkeyMustafa Basaran, Department of Obstetrics and Gynecology, Konya Education and Research Hospi...

[Assessment of anxiety, pain and its management in prenatal diagnosis procedures.]

Journal de Gynecologie, Obstetrique et Biologie de la Reproduction — Fri, 21 Jan 2011 00:00:00 +0100

CONCLUSION: An analgesic, anxiolytic, or a relaxation technique can be proposed to anxious and applicant patients undergoing CVS. Technical conditions of the procedure are more difficult to improve, however, we should use if possible thinner needles, and avoid, wherever technically possible, the punctures on the lateral side of the uterus. Finally, further studies seem necessary for the evaluation of a treatment protocol. PMID: 21257273 [PubMed - as supplied by publisher] (Source: Journal de Gynecologie, Obstetrique et Biologie de la Reproduction)

MedWorm Sponsor Message: Find the best January Sales in the UK.

Beyond informed choice: prenatal risk assessment, decision-making and trust

Clinical Ethics — Tue, 18 Jan 2011 00:00:00 +0100

In 2004, prenatal risk assessment (PRA) was implemented as a routine offer in Denmark, in order to give all pregnant women an informed choice about whether to undergo prenatal testing. PRA is a non-invasive intervention performed in the first trimester of pregnancy and measures the risk of a fetus having Down's syndrome or other chromosomal disorders. The risk figure provides the basis for action, i.e. the decision about whether or not to undergo invasive fetal testing via the maternal route (amniocentesis or chorionic villus sampling), which, however, involves the risk of inducing a miscarriage. On the basis of ethnographic fieldwork in an ultrasound clinic in Denmark and interviews with pregnant women and their partners, this paper investigates how ideals such as autonomy and non-directi...

Risk for placental abruption following amniocentesis and chorionic villus sampling

Prenatal Diagnosis — Mon, 17 Jan 2011 00:00:00 +0100

(Source: Prenatal Diagnosis)

Twin pregnancies: guidelines for clinical practice from the French College of Gynaecologists and Obstetricians (CNGOF)

European Journal of Obstetrics, Gynecology, and Reproductive Biology — Fri, 14 Jan 2011 00:00:00 +0100

Abstract: The rate of twin deliveries in 2008 was 15.6 per 1000 in France, an increase of approximately 80% since the beginning of the 1970s. It is recommended that chorionicity be diagnosed as early as possible in twin pregnancies (Professional Consensus). The most relevant signs (close to 100%) are the number of gestational sacs between 7 and 10 weeks and the presence of a lambda sign between 11 and 14 weeks (Professional Consensus).In twin pregnancies, nuchal translucency is the best parameter for evaluating the risk of aneuploidy (Level B). The routine use of serum markers during the first or the second trimester is not recommended (Professional Consensus). In the case of a choice about sampling methods, chorionic villus sampling is recommended over amniocentesis (Professional Consensu...

Analysis of cosegregation of intragenic DNA sequence variations as markers of maternal cell contamination in prenatal diagnosis of β-thalassemia

Translational Research — Thu, 13 Jan 2011 00:00:00 +0100

Prenatal diagnosis of 3 HBB gene mutations causing β-thalassemia and hemoglobin D Punjab segregated in a South Indian nuclear family is reported along with a method identified as control for maternal cell contamination (MCC). Amplicons of the HBB gene from genomic DNA obtained from the blood of a thalassemic first child (proband), both parents, and a chorionic villus sample of their second pregnancy were directly sequenced. A test for MCC was performed by genotyping polymorphic microsatellite markers (D21S11 and D21S1270) by quantitative fluorescence polymerase chain reaction (QF-PCR) and capillary gel electrophoresis. The pedigree analysis showed proband as a compound heterozygote of NG_000007.3:g.70691G>C and NG_000007.3:g.72128T>C mutations; showed the father as a compound heterozygote...

DNA Blood Test Practically Eliminates Risky Down's Syndrome Invasive Testing

Health News from Medical News Today — Wed, 12 Jan 2011 16:00:00 +0100

Until now, for it to be determined if a child will be born with Down's syndrome, invasive procedures needed to be conducted, however a new study finds that women in high risk pregnancies for Down's syndrome could have a DNA blood test to detect the disorder and avoid invasive procedures. Such procedures include amniocentesis, which requires a puncture of the amniotic sac, or chorionic villus sampling or a removal of a small piece of placenta tissue (chorionic villi) from the uterus during early pregnancy... (Source: Health News from Medical News Today)

MedWorm Sponsor Message: Please support the Doctors In Chains campaign for the medics tortured and sentenced for up to 15 years in Bahrain. #FreeDoctors

DNA blood test can cut invasive testing for Down's syndrome by 98 percent, study suggests

ScienceDaily Headlines — Wed, 12 Jan 2011 16:00:00 +0100

Women in high risk pregnancies for Down's syndrome could have a DNA blood test to detect the disorder and avoid invasive procedures such as amniocentesis or chorionic villus sampling, finds a large scale study. (Source: ScienceDaily Headlines)

Promising results for new Down’s test

NHS News Feed — Wed, 12 Jan 2011 10:46:00 +0100

Conclusion This is a high quality diagnostic study. The findings validate the accuracy of a new maternal plasma DNA sequencing test, comparing the results with confirmatory diagnosis obtained through amniocentesis or chorionic villus sampling, currently the gold standard tests for diagnosing Down’s from genetic samples. The study also compared two levels of multiplex sequencing, 2-plex and 8-plex, finding 2-plex to have 100% accuracy at detecting babies with Down’s syndrome. However, specificity was slightly less and there was a 3.4% possibility of a false positive. This means that people who got a negative result could be confident their baby did not have Down’s. With a positive test result however, there would be the slight possibility the baby did not actually have Down’s. This ...

Fetal echocardiography at 11–13 weeks by transabdominal high‐frequency ultrasound

Ultrasound in Obstetrics and Gynecology — Wed, 12 Jan 2011 00:00:00 +0100

ConclusionsA well‐trained obstetrician using high‐resolution ultrasound equipment can assess the fetal heart at 11–13 weeks with a high degree of accuracy. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd. (Source: Ultrasound in Obstetrics and Gynecology)

DNA blood test can cut invasive testing for Down's syndrome by 98 percent

EurekAlert! - Medicine and Health — Tue, 11 Jan 2011 05:00:00 +0100

(BMJ-British Medical Journal) Women in high risk pregnancies for Down's syndrome could have a DNA blood test to detect the disorder and avoid invasive procedures such as amniocentesis or chorionic villus sampling, finds a large scale study published on BMJ.com today. (Source: EurekAlert! - Medicine and Health)

Cytogenetic analysis of 355 cases of fetal loss in different trimesters

Prenatal Diagnosis — Tue, 04 Jan 2011 00:00:00 +0100

ConclusionParents should be counseled on all aspects of cytogenetic analysis after fetal death. Antepartum testing after pregnancy loss is recommended. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

MedWorm Sponsor Message: Find the best January Sales in the UK.

Prediction of miscarriage and stillbirth at 11–13 weeks and the contribution of chorionic villus sampling

Prenatal Diagnosis — Sat, 01 Jan 2011 00:00:00 +0100

ConclusionA high proportion of fetal losses can be predicted at 11 to 13 weeks. A model for such predictions can be used to assess the procedure‐related risks from CVS. Copyright © 2011 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)

[Non-invasive prenatal diagnosis of cystic fibrosis.]

Archives de Pediatrie — Sat, 01 Jan 2011 00:00:00 +0100

Authors: Paterlini Bréchot P, Mouawia H, Saker A Cystic fibrosis (CF) is a frequently fatal autosomal recessive inherited disease affecting around one in 3000 newborns in France, the carrier frequency varying from one in 20 to one in 40 subjects depending on the geographical area. The disease is caused by a chloride channel defect that is attributable to mutations in the gene that encodes the CF transmembrane conductance regulator (CFTR). Approximately, 1200 different mutations have been discovered. Among them, the F508del mutation accounts for 70% of mutated alleles worldwide. Prenatal diagnosis (PND) of inherited monogenic disorders such as CF currently relies on invasive procedures-amniocentesis, chorionic villus sampling (CVS) - which carry a significant risk of miscarriage (...

Huntington's disease: a clinical review

Orphanet Journal of Rare Diseases — Mon, 20 Dec 2010 00:00:00 +0100

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington's disease; JHD). The classic sign is chorea that gradually spreads to all muscles. All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more) on the short arm of chromosome 4p16.3 in the Hun...

Early work on baby screening blood test

NHS News Feed — Thu, 09 Dec 2010 11:43:00 +0100

Conclusion This study has shown that it should be possible to test foetal DNA using maternal blood samples. However, there are some points to note: This study only looked at samples from one couple to establish whether the method could work. This does not tell us how well it would perform if used more widely. Before the technique could be widely used, it would have to undergo further testing in more couples and for other conditions to ensure that it was accurate and reliable enough for general use. The method relied partly on information obtained from foetal DNA from sampling of the placenta (chorionic villus sampling). If the new method was to replace this type of invasive testing, this information would need to be obtained in a different way. The researchers suggest ways in which t...

Restrictive Dermopathy in a Turkish Newborn

Pediatric Dermatology — Thu, 02 Dec 2010 00:00:00 +0100

Abstract: A 4‐day‐old boy presented with tight, translucent skin, prominent vessels, skin erosions, and dysmorphic findings, including hypertelorism, antimongoloid axis, sparse eyelashes and eyebrows, pinched nose, natal teeth, microretrognathia, and an “o‐shaped” mouth. Multiple joint contractures, dysplastic clavicles, and thin ribs were also observed. He died at 2 weeks of age of respiratory distress. The patient was diagnosed as being affected with restrictive dermopathy, which is a rare, lethal genodermatosis caused by recessive mutations of the zinc metalloproteinase ZMPSTE24 gene or less frequently, by dominant lamin A/C gene mutations. Direct sequencing of the ZMPSTE24 gene was performed, and the most common, homozygous, inactivating mutation in exon 9 was identified...

MedWorm Sponsor Message: Please support the Doctors In Chains campaign for the medics tortured and sentenced for up to 15 years in Bahrain. #FreeDoctors

Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age

Seminars in Fetal and Neonatal Medicine — Mon, 15 Nov 2010 00:00:00 +0100

Summary: Prenatal diagnosis is an important part of obstetrics care. In the current prenatal programmes, definitive diagnosis of fetal genetic or chromosomal conditions is conducted through fetal sampling by amniocentesis or chorionic villus sampling. To obviate the risks of fetal miscarriage that are associated with the invasive sampling procedures, we have been developing non-invasive prenatal diagnostic tests based on cell-free fetal DNA analysis from maternal plasma. To date, fetal sex and rhesus D status determination by circulating fetal DNA analysis is performed clinically in many centres. Strategies for the non-invasive diagnosis of monogenic diseases have been developed. Accurate detection of fetal trisomy 21 by next-generation sequencing has been achieved. Many of the non-invasiv...

The risk of cytogenetic abnormalities in the late first trimester of pregnancies conceived through assisted reproduction

Fertility and Sterility — Thu, 14 Oct 2010 00:00:00 +0100

Conclusion(s): Infertility treatment does not increase the risk of carrying a cytogenetically abnormal fetus in the late first trimester, nor does it increase the preponderance for any specific type of abnormality. (Source: Fertility and Sterility)

Flow cytometric methods for prenatal and neonatal diagnosis.

Journal of Immunological Methods — Sun, 03 Oct 2010 23:00:00 +0100

Authors: Curtis MG, Denny BW Flow cytometry offers a promising alternative to the current methods of amniocentesis or chorionic villus sampling (CVS) for fetal cell sorting for prenatal diagnosis. While flow cytometric methods have been greatly improved to be more sensitive at detecting fetal cells within the maternal circulation, there are still several challenges that need to be overcome before application in prenatal diagnosis. However, flow cytometry is a powerful tool that can be used to enhance molecular testing and other diagnostic testing modalities in prenatal and neonatal diagnosis. It remains the gold standard to identify cellular immunodeficiencies and for some immunological disorders with established biomarkers, flow cytometric assays can be used to make a definitive diagn...

Invasive Fetal Karyotyping Doesn't Lead to Maternal Hypertension

Medscape ObGyn and Womens Health Headlines — Tue, 21 Sep 2010 08:20:39 +0100

Amniocentesis and chorionic villus sampling don't contribute to gestational hypertension or preeclampsia, Swedish researchers reported online August 17th in BJOG. Reuters Health Information (Source: Medscape ObGyn and Womens Health Headlines)

Quantitative methylation analysis of developmentally important genes in human pregnancy losses after ART and spontaneous conception

Molecular Human Reproduction — Tue, 31 Aug 2010 14:26:56 +0100

To study possible effects of assisted reproductive technologies (ART) on epigenetic reprogramming, we have analyzed the DNA methylation levels of differentially methylated regions (DMRs) of seven imprinted genes (H19, MEG3, LIT1, MEST, NESP55, PEG3 and SNRPN) as well as the promoter regions of the pluripotency gene NANOG and the tumor suppressor gene APC in chorionic villus samples (CVS) of 42 spontaneous miscarriages and stillbirths after ART and 29 abortions/stillbirths after spontaneous conception. We did not find an increased rate of faulty methylation patterns after ART, but significant and trend differences (ROC curve analysis, Wilcoxon test) in the methylation levels of LIT1 (P = 0.006) and H19 (P = 0.085) between ART and non-ART samples. With the possible exception of NANOG, we did...

MedWorm Sponsor Message: Find the best January Sales in the UK.

Invasive procedures for fetal karyotyping: no cause of subsequent gestational hypertension or pre-eclampsia.

BJOG : An International Journal of Obstetrics and Gynaecology — Mon, 16 Aug 2010 23:00:00 +0100

Authors: Lindgren P, Cederholm M, Haglund B, Axelsson O Please cite this paper as: Lindgren P, Cederholm M, Haglund B, Axelsson O. Invasive procedures for fetal karyotyping: no cause of subsequent gestational hypertension or pre-eclampsia. BJOG 2010; DOI:10.1111/j.1471-0528.2010.02665.x The aim was to estimate the risk of maternal hypertensive complications following first- or second-trimester invasive diagnostic procedures, i.e. chorionic villus sampling (CVS) and amniocentesis (AC). Odds ratios (ORs) for gestational hypertension, mild pre-eclampsia or severe pre-eclampsia were calculated for women who underwent CVS (n = 1 984) or AC (n = 21 748) compared with non-exposed women (n = 47 854). No increase in the development of gestational hypertension, mild pre-eclampsia or severe pre-e...

Chorionic Villus Sampling at 11 to 13 Weeks Not Linked to Hypertensive Disorders in Pregnancy

Medscape Today Headlines — Mon, 16 Aug 2010 17:54:04 +0100

A study shows no association between performing a chorionic villus sampling in the first trimester and subsequent development of hypertensive disorders of pregnancy. Medscape Medical News (Source: Medscape Today Headlines)

LAIR2 localizes specifically to sites of extravillous trophoblast invasion

Placenta — Sun, 08 Aug 2010 23:00:00 +0100

Conclusions: ISH and IHC staining for LAIR2 detected specific, highly localized expression at the leading edge of EVT anchoring cell columns in first trimester placentas. This staining likely identifies the site of production for this soluble receptor. Following secretion, the receptor appears to bind extracellular material among the invasive EVT. The precise restriction of this protein only to the sites of EVT invasion strongly suggests that it functions to regulate this invasion. The decreased LAIR2 expression noted in first trimester placentas that ultimately developed preeclampsia further suggests that alterations in LAIR2 may play an etiologic role in preeclampsia. (Source: Placenta)

Chorionic villus sampling at 11 to 13 weeks of gestation and hypertensive disorders in pregnancy.

Obstetrics and Gynecology — Thu, 29 Jul 2010 19:48:11 +0100

CONCLUSION:: There is no association between performing a CVS in the first trimester and subsequent development of hypertensive disorders of pregnancy. LEVEL OF EVIDENCE:: II. PMID: 20664398 [PubMed - in process] (Source: Obstetrics and Gynecology)

Effect of Chorionic Villus Sampling on Uterine Artery Doppler

Karger Publishers — Tue, 20 Jul 2010 23:00:00 +0100

Fetal Diagn Ther 2010;28:9â13 (DOI:10.1159/000315295) (Source: Karger Publishers)

MedWorm Sponsor Message: Please support the Doctors In Chains campaign for the medics tortured and sentenced for up to 15 years in Bahrain. #FreeDoctors

Trisomy 16 Mosaicism at Chorionic Villus Sampling and Amniocentesis with a Normal Physical and Intellectual Outcome

Karger Publishers — Tue, 20 Jul 2010 23:00:00 +0100

Fetal Diagn Ther (DOI:10.1159/000316404) (Source: Karger Publishers)

Cheap, simple, noninvasive blood test may replace invasive diagnostic techniques in early pregnancy

ScienceDaily Headlines — Thu, 01 Jul 2010 00:00:00 +0100

Researchers in the Netherlands believe they are on the verge of developing a simple, prenatal blood test that would be able to detect accurately chromosomal abnormalities in the developing fetus. At present, the only reliable way to do this is through amniocentesis or chorionic villus sampling, both of which are invasive and carry the risk of triggering a miscarriage. (Source: ScienceDaily Headlines)

Cheap, Simple, Noninvasive Blood Test May Replace Invasive Diagnostic Techniques In Early Pregnancy

Health News from Medical News Today — Wed, 30 Jun 2010 12:00:00 +0100

Researchers in The Netherlands believe they are on the verge of developing a simple, prenatal blood test that would be able to detect accurately chromosomal abnormalities in the developing foetus. At present, the only reliable way to do this is through amniocentesis or chorionic villus sampling, both of which are invasive and carry the risk of triggering a miscarriage... (Source: Health News from Medical News Today)

Cheap, simple, noninvasive blood test for early pregnancy

Medicineworld.org: New Article Alert — Tue, 29 Jun 2010 12:36:37 +0100

Scientists in The Netherlands believe they are on the verge of developing a simple, prenatal blood test that would be able to detect accurately chromosomal abnormalities in the developing foetus. At present, the only reliable way to do this is through amniocentesis or chorionic villus sampling, both of which are invasive and carry the risk of triggering a miscarriage........ (Source: Medicineworld.org: New Article Alert)

Cheap, simple, noninvasive blood test may replace invasive diagnostic techniques in early pregnancy

EurekAlert! - Medicine and Health — Tue, 29 Jun 2010 04:00:00 +0100

(European Society of Human Reproduction and Embryology) Researchers in the Netherlands believe they are on the verge of developing a simple, prenatal blood test that would be able to detect accurately chromosomal abnormalities in the developing fetus. At present, the only reliable way to do this is through amniocentesis or chorionic villus sampling, both of which are invasive and carry the risk of triggering a miscarriage. (Source: EurekAlert! - Medicine and Health)

MedWorm Sponsor Message: Find the best January Sales in the UK.

Chromosomal anomaly spectrum in early pregnancy loss in relation to presence or absence of an embryonic pole

Fertility and Sterility — Thu, 10 Jun 2010 00:00:00 +0100

Conclusion(s): Viable autosomal trisomies and monosomies X appear not to be a common cause of miscarriage with an early fetal demise (anembryonic miscarriage). (Source: Fertility and Sterility)

The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis

Prenatal Diagnosis — Wed, 26 May 2010 23:00:00 +0100

The objective was to determine the risk of sampling error in amniocentesis and chorionic villus sampling (CVS) in singleton and multiple pregnancies. Data from this and other published studies were used to discuss current practice guidelines for molecular identity testing.Clinical and laboratory records of all patients undergoing molecular-based identity testing in our clinical laboratory from July 2002 until March 2008 were reviewed. DNA microsatellite testing was performed to determine zygosity in multiple pregnancies and maternal cell contamination (MCC) in both singleton and multiple pregnancies.MCC was detected in 6/148 (4%) CVS and 1/87 (1%) amniotic fluids from singleton pregnancies. In two of the CVS, only maternal cells were found. In 2/24 (8%) twin pregnancies, the same fetus was...

Maternal antimullerian hormone levels do not predict fetal aneuploidy

Journal of Assisted Reproduction and Genetics — Wed, 19 May 2010 18:00:01 +0100

Conclusions Maternal AMH does not appear to be a marker of fetal aneuploidy in ongoing pregnancies. Contrary to previous reports, we found a significant decline in maternal AMH levels with advancing gestational age. Content Type Journal ArticleCategory geneticsDOI 10.1007/s10815-010-9433-4Authors Beth J. Plante, Warren Alpert Medical School of Brown University, Women and Infants Hospital, Department of Obstetrics and Gynecology 101 Dudley Street Providence RI 02905 USACarmen Beamon, The University of North Carolina School of Medicine, Department of Obstetrics and Gynecology CB 7570, Old Clinic Building Chapel Hill NC 27599-7570 USAColleen L. Schmitt, The University of North Carolina School of Medicine, Department of Obstetrics and Gynecology CB 7570, Old Clinic Build...

Chorionic villus sampling

MayoClinic.com Full Feed — Sat, 15 May 2010 05:00:00 +0100

— Overview covers definition, risks, results of this early prenatal test. (Source: MayoClinic.com Full Feed)

Ethnic and socio-economic differences in uptake of prenatal diagnostic tests for Down's syndrome

European Journal of Obstetrics, Gynecology, and Reproductive Biology — Mon, 10 May 2010 23:00:00 +0100

Conclusions: Uptake of prenatal diagnostic tests for Down's syndrome in The Netherlands was low and varied among ethnic and socio-economic groups of advanced maternal age. The finding that women of Turkish and Caribbean origin participated in prenatal diagnostic tests equally or more often than Dutch women was unexpected. The low uptake among Dutch women may be related to the Dutch pregnancy culture. The finding that women of North-African origin and women from low socio-economic background had a lower uptake may be related to barriers in access to prenatal diagnostic tests. (Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology)

MedWorm Sponsor Message: Please support the Doctors In Chains campaign for the medics tortured and sentenced for up to 15 years in Bahrain. #FreeDoctors

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Annals of the New York Academy of Sciences — Sun, 04 Apr 2010 23:00:00 +0100

21-Hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), an inherited disorder of steroidogenesis. In its severe form, CAH causes genital ambiguity in females. Molecular genetic analysis of fetal DNA obtained by amniocentesis or chorionic villus sampling is used to diagnose steroid 21-OHD deficiency in utero. Large ongoing studies show that appropriate prenatal treatment of pregnant mothers with dexamethasone is effective and safe for both the fetus and the mother. It reduces ambiguous genitalia in the female affected fetus and thus avoids unnecessary genitoplasty in the newborn female. (Source: Annals of the New York Academy of Sciences)

Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.

Indian J Med Res — Wed, 31 Mar 2010 23:00:00 +0100

CONCLUSIONS: That the CLCN7 mutations provoke a phenotype as severe as the one caused by TCIRG1 loss of function suggests the affected residues to be crucial for the function of the ClC-7 chloride channel or chloride/proton-exchanger. Our data also show that ARO can manifest as early as in the second trimester of pregnancy. PMID: 20424301 [PubMed - in process] (Source: Indian J Med Res)

Prenatal Diagnosis of Epidermolysis Bullosa

Dermatologic Clinics — Wed, 31 Mar 2010 23:00:00 +0100

One of the most significant benefits of translational research in dermatology has been the development of prenatal diagnosis for couples at risk of recurrence of severe inherited skin diseases. Indeed, over the last 30 years a greater understanding of the molecular basis of epidermolysis bullosa (EB), as well as technical refinements in laboratory procedures, has facilitated the development of several different approaches for prenatal diagnosis. Initial tests were based on fetal skin biopsy sampling, but these have largely been superseded by DNA based analyses, mostly using fetal DNA derived from chorionic villus sampling taken at around 10--12 weeks' gestation. Further advances, however, have led to the introduction of licensed preimplantation genetic screening for some forms of EB, an ap...

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

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

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

The 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...

MedWorm Sponsor Message: Find the best January Sales in the UK.

Preimplantation Genetic Diagnosis for Stargardt Disease

American Journal of Ophthalmology — Wed, 10 Feb 2010 00:00:00 +0100

Conclusion: IVF and preimplantation genetic diagnosis can assist couples with an affected spouse and a carrier spouse with recessive retinal dystrophies to have an unaffected child. (Source: American Journal of Ophthalmology)

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...

MedWorm Sponsor Message: Please support the Doctors In Chains campaign for the medics tortured and sentenced for up to 15 years in Bahrain. #FreeDoctors

Amniocentesis and chorionic villus sampling in twin gestations: which is the best sampling technique?

American Journal of Obstetrics and Gynecology — Fri, 08 Jan 2010 00:00:00 +0100

Objective: To compare the fetal loss rate (Source: American Journal of Obstetrics and Gynecology)

Chorionic villus sampling in the prenatal diagnosis of placental mesenchymal dysplasia

Ultrasound in Obstetrics and Gynecology — Fri, 01 Jan 2010 00:00:00 +0100

(Source: Ultrasound in Obstetrics and Gynecology)

Hemangioma in the newborn: increased incidence after chorionic villus sampling

Prenatal Diagnosis — Fri, 01 Jan 2010 00:00:00 +0100

Abstract (Source: Prenatal Diagnosis)

Analysis of secondary ultrasound markers in the first trimester before chorionic villus sampling

Prenatal Diagnosis — Fri, 01 Jan 2010 00:00:00 +0100

Abstract (Source: Prenatal Diagnosis)

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)

MedWorm Sponsor Message: Find the best January Sales in the UK.

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)

[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)

MedWorm Sponsor Message: Please support the Doctors In Chains campaign for the medics tortured and sentenced for up to 15 years in Bahrain. #FreeDoctors

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

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...

MedWorm Sponsor Message: Find the best January Sales in the UK.

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)

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)

MedWorm Sponsor Message: Please support the Doctors In Chains campaign for the medics tortured and sentenced for up to 15 years in Bahrain. #FreeDoctors

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)

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...

MedWorm Sponsor Message: Find the best January Sales in the UK.

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)

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...

MedWorm Sponsor Message: Please support the Doctors In Chains campaign for the medics tortured and sentenced for up to 15 years in Bahrain. #FreeDoctors

Prenatal diagnosis of chronic granulomatous disease in a male fetus.

Iranian Journal of Allergy, Asthma and Immunology — Sun, 01 Mar 2009 00:00:00 +0100

Authors: Yavuz KÃ¶ker M, Metin A, OzgÃ¼r TT, de Boer M, Roos D Mutations in any of four known NADPH-oxidase components lead to CGD. X-linked CGD (X-CGD) is caused by defects in CYBB, the gene that encodes gp91-phox. Autosomal recessive (AR) CGD is caused by defects in the genes for p47 phox, p22-phox or p67-phox. The aim of this study was to screen the molecular defect in the fetus of an X-CGD carrier mother and postnatal confirmation of the results. In a family whose first-born child died from X-CGD, fetal DNA was obtained from an ongoing pregnancy by chorionic villus sampling (CVS). Direct sequencing was used to detect the previously identified CYBB gene mutation. The NADPH oxidase activity in the neutrophils from the carrier mother and from the newborn was analyzed by the DHR as...

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- ...

MedWorm Sponsor Message: Find the best January Sales in the UK.

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...

MedWorm Sponsor Message: Please support the Doctors In Chains campaign for the medics tortured and sentenced for up to 15 years in Bahrain. #FreeDoctors

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...

MedWorm Sponsor Message: Find the best January Sales in the UK.

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...

MedWorm Sponsor Message: Please support the Doctors In Chains campaign for the medics tortured and sentenced for up to 15 years in Bahrain. #FreeDoctors

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...

MedWorm Sponsor Message: Find the best January Sales in the UK.

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)

MedWorm Sponsor Message: Please support the Doctors In Chains campaign for the medics tortured and sentenced for up to 15 years in Bahrain. #FreeDoctors

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)