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PubMedDate not supplied

Clients undergoing chorionic villus sampling versus amniocentesis: contrasting attitudes toward pregnancy.

We analyzed interview data from 44 primarily white, middle-class women who had used the prenatal diagnostic technique of chorionic villus sampling (CVS: n = 24) or amniocentesis (n = 20). CVS provides earlier results but carries a somewhat higher risk of miscarriage. Amniocentesis clients were highly committed to the pregnancy and expressed considerable anxiety over the possibility of having to terminate it should an abnormality be diagnosed. CVS clients seemed less bonded to the fetus and less concerned about losing a pregnancy several termed "replaceable." Thus, with its first-trimester abortion decision, CVS redefines prenatal diagnostic issues for women.

Abortion, Therapeutic↗
PubMed1992

Prenatal diagnosis of mitochondrial DNA8993 T----G disease.

We have previously described a family with a neurological syndrome comprising neurogenic muscle weakness, ataxia, retinitis pigmentosa, and variable sensory neuropathy, seizures, and mental retardation or dementia. This is associated with a heteroplasmic point mutation of mtDNA at bp 8993. The mother of a severely affected child underwent prenatal diagnosis in two further pregnancies. Analysis of chorionic villus samples showed a higher proportion of mutant mtDNA on both occasions, and this was reflected in the majority of fetal tissues, including brain and muscle. Prenatal diagnosis is a rational approach to the prevention of severe diseases caused by point mutations of mtDNA but is currently hampered by incomplete knowledge concerning the proportion of mutant mtDNA: its relationship to disease severity, how it may change during fetal and postnatal development, and its tissue distribution.

Child, Preschool↗
PubMed2000

Prenatal diagnosis in multiple pregnancy.

Fetal abnormality is more common in multiple than in singleton pregnancies. This, together with the requirement to consider the risks with at least two babies to sample correctly each fetus and to undertake accurately-targeted selective termination, amounts to a major challenge for obstetricians involved in prenatal diagnosis. Early determination of chorionicity should be routine, since this influences not only the genetic risks but also the invasive procedure chosen for karyotyping or genotyping. Assessment of nuchal translucency identifies individual fetuses at risk of trisomy. Contrary to expectation, invasive procedures in twins appear to have procedure-related miscarriage rates that are similar to those in singletons. Instead, contamination remains a concern at chorionic villus sampling. Elective late karyotyping of fetuses may have a role in some countries. Whereas management options for discordant fetal abnormality are relatively straightforward in dichorionic pregnancies, monochorionic pregnancies are at risk of co-twin sequelae after any single intrauterine death. Techniques have now been developed to occlude completely the cord vasculature by laser and/or ultrasound guided bipolar diathermy. Given the complexities associated with prenatal diagnosis, all invasive procedures in multiple pregnancies should be performed in tertiary referral centres.

Amniocentesis↗
PubMed2003

Prenatal medicine related to stress and depressive reactions of pregnant women and their partners.

OBJECTIVE: Our study analyses the emotional mood of pregnant women and their partners before various prenatal diagnostic procedures (amniocentesis, ultrasound, chorion villus sampling), and their psychological stress both before and after the diagnostic procedures. METHODS: We studied 472 pregnant women and 308 partners. 88 women (18.6%) had an amniocentesis, 344 (72.8%) had ultrasound and 40 (8.5%) a chorionic villus sampling. The German version of the Center for Epidemiological Studies-Depression Scale of Hautzinger and the short questionnaire of actual situative perceived stress of Müller were used. RESULTS: Before prenatal examination, the mean level of depression and strain was equal in women and men in all groups (ultrasound, amniocentesis, chorionic villus sampling). Before the start of the prenatal examination the pregnant women had a significantly higher depressive feature on the depression-scale and significantly higher stress score than their partners. After prenatal examination the couples' stress differed significantly in the three groups for women and for men. Comparing the stress experienced before and after the prenatal diagnosis revealed both for women and men statistically significant differences. DISCUSSION: The individual experience of prenatal diagnosis is not determined by the invasivity of the procedure.

Amniocentesis↗
PubMed1992

[Exclusion of Sandhoff disease (Tay-Sachs 0 variant) by chorion biopsy].

Transcervical chorionic villus sampling with ultrasound guidance at the 11-th week of pregnancy was made at a woman with the history of one lethal case of Sandhoff disease. The total hexosaminidase and the hexosaminidase A were determined. At the 16-th week amniocentesis was performed and the characteristic enzymes were determined from the amniotic cell culture. The results of the examinations made possible to advise the patient to carry out the pregnancy. The examinations after delivery confirmed the newborn to be a carrier.

Adult↗
PubMed1996

First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling.

A 28-year-old woman, who previously had had a child affected with the hereditary blistering skin disorder, recessive dystrophic epidermolysis bullosa, presented at 7 weeks' gestation for prenatal diagnosis. Genomic DNA, obtained from her, her husband (who is a first cousin), their unaffected child, and their previously affected child, was used to screen all 118 exons of the type VII collagen gene (COL7A1) by polymerase chain reaction (PCR) amplification followed by heteroduplex analysis of the PCR products. Established common polymorphisms within the NC-1 region of COL7A1 were informative for both the normal maternal and paternal alleles. In addition, a putative homozygous mutation, a G to C transversion at nucleotide position 7708, was identified in the affected child. This substitution converts a glycine residue (GGT) within the Gly-X-Y region of the type VII collagen triple helix into an arginine residue (CGT), and leads to the creation of a new MnlI restriction site. Both parents and the healthy sibling were shown to be clinically normal heterozygous carriers of this mutation. A chorionic villus biopsy was performed at 10 weeks' gestation and DNA was extracted from the villi. Assessment of informative intragenic markers, and the putative mutation, revealed that the fetus had inherited both the normal maternal and paternal COL7A1 alleles. Thus, first trimester DNA-based prenatal diagnosis predicts that this child is neither affected with recessive dystrophic epidermolysis bullosa, nor is an unaffected carrier of this genodermatosis.

Base Sequence↗
PubMed1994

Fragile X induction systems in CVS cultures: effect on cytogenetic, PCR, and genomic Southern Blot DNA analyses of the FMR-1 gene.

Low fragile X frequencies have been commonly observed in chorionic villus sample (CVS) cultures, compared to subsequent analysis in whole blood or products of conception (POC). To investigate possible mechanisms for this effect, CVS cultures from a previously identified fragile X positive male, were restudied and compared to subsequent POC cultures from lung, muscle, skin, and thymus. Cultures were exposed, for the last 24 hours before harvesting, to FUdR, excess thymidine, and a combination of both. For CVS, only those cultures that were exposed to a combination of FUdR and excess thymidine showed positive cytogenetic findings (1/90 or 1.1%), agreeing with our original positive cytogenetic results (2/86 or 2.3%) for cultures exposed to excess thymidine. Fragile X frequencies in the POC tissues from this fetus increased to an average of 14%. PCR analyses showed full mutations (> 200 CGG repeats) in uninduced CVS cultures but induced cultures exhibited apparently smaller sizes in the range of 120-180 repeats. The results showed variability. In one instance, the banding pattern from one of the uninduced cultures was similar to the results where cultures were exposed to a double induction system. When PCR analyses were conducted on induced POC cultures, full mutations were observed in virtually all samples. Southern blot genomic analysis using probe StB12.3 showed an unmethylated full mutation in CVS cultures. Southern blot patterns from cultures of muscle revealed size variations of DNA bands in the premutation range representing unmethylated DNA as well as methylated full mutations. Finally, variations were also observed in lung and skin cultures, compared to CVS and muscle.(ABSTRACT TRUNCATED AT 250 WORDS)

Blotting, Southern↗
PubMed1988

Transabdominal chorionic villus sampling: analysis of 350 consecutive cases.

We report a series of 350 patients submitted to transabdominal chorionic villus sampling (CVS). A technique using two ultrasound-guided needles and a suction pump was used. In most cases, the procedure was performed between 9 and 13 weeks. Twenty-one pregnancies were selectively terminated; nine spontaneous abortions followed the procedure and one fetal loss after 28 weeks was recorded; 153 pregnancies are in progress and 169 delivered fetuses are alive and well. Transabdominal biopsy is a feasible and effective technique for CVS.

Abdominal Muscles↗
PubMed1993

'Late' chorionic villus sampling: cytogenetic aspects.

Cytogenetic data about 145 chorionic villus samples obtained between the 13th and 35th week of gestation are reported. 'Late' chorionic villus sampling (CVS) was used to resolve different situations: failed amniotic fluid cell cultures (5 cases); confirmation of an abnormal karyotype, previously diagnosed as mosaic (14 cases); and ultrasound fetal malformation (23 cases). Most of the samples (103 cases) were analysed for the classical indications and in these cases, the principal aim was to obtain a rapid fetal karyotype. Excluding the cases used to check fetal karyotype, a chromosomal aberration was found in 11 out of 131 biopsies. In four cases of the group in which the fetal karyotype was checked (14 cases), the pathology observed at the first diagnosis was confirmed, while in the remaining ten cases the anomaly was not observed.

Chorionic Villi Sampling↗
PubMed2006

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

OBJECTIVE: QF-PCR is an inexpensive and reliable method for aneuploidy screening; however, despite its obvious advantages, it is not in routine use in the United States. Our objective in the present study was to validate QF-PCR as a means for prenatal aneuploidy screening in our institution. METHODS: A QF-PCR assay using 15 primer pairs located on chromosomes 13, 18, 21 X and Y was established for aneuploidy screening. Amniotic fluid (AF) and chorionic villus sampling (CVS) samples consisting only of the cells recovered from the plasticware discarded by our institutional cytogenetics laboratory were collected and DNA was prepared by a simple and inexpensive microwave procedure. QF-PCR was then performed and interpreted using established criteria. RESULTS: 687 consecutive prenatal samples were screened in a blinded prospective manner, and results were compared to those obtained by conventional cytogenetics. 100% of autosomal trisomies were detected, and there were zero false positives. A single case each of XXY and 45X were missed. CONCLUSIONS: QF-PCR for prenatal aneuploidy screening was validated in our laboratory and has now been approved by the New York State Clinical Laboratory Evaluation Program. We propose a simple protocol for integrating QF-PCR into the normal cytogenetics laboratory workflow.

Amniotic Fluid↗
PubMedDate not supplied

Platelet activating factor-acetylhydrolase activity following chorionic villus sampling and amniocentesis.

OBJECTIVE: Platelet activating factor (PAF) is essential for embryonic development and is a potent vasodilator. It increases vascular permeability and stimulates prostaglandin E2 (PGE2) production. Platelet activating factor-acetylhydrolase (PAF-AH), the enzyme that degrades PAF, is synthesized by decidual macrophages. The aim of this study was to test the hypothesis that chorionic villus sampling (CVS) and/or amniocentesis might cause an increase in maternal PAF-AH activity. METHODS: Maternal plasma PAF-AH activity was evaluated before and after genetic amniocentesis (N = 13) and transcervical CVS (N = 29). A control group (N = 9) was evaluated to study the effects of venipuncture. RESULTS: Chorionic villus sampling caused a significant elevation in PAF-AH activity (P < .0005). No changes were noted in PAF-AH activity in the amniocentesis or the control group. CONCLUSIONS: Chorionic villus sampling causes subclinical release of PAF-AH, possibly from the decidual macrophages. Increased PAF-AH activity might result in decreased PAF levels, which might lead to vasoconstriction in the placental circulation due to lack of the vasodilator effects of PAF and possibly PGE2. This mechanism might explain the increased risk for fetal limb reduction noted with CVS performed at very early gestational ages.

1-Alkyl-2-acetylglycerophosphocholine Esterase↗
PubMed1999

Prenatal diagnosis of haemophilia-A: a basis for the Pakistani families.

OBJECTIVE: To determine the feasibility of a PCR based strategy for prenatal diagnosis of Haemophilia-A in Pakistani Families. DESIGN: Prospective. SETTING: Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi. SUBJECTS: Five families with at least one child affected with Haemophilia-A. Each family comprised of father, mother, affected child and fetus when present. MAIN OUTCOME MEASURES: Short Tandem Repeat (STR) analysis in the Intron 22 of factor VIII gene. RESULTS: PCR based analysis of the STR in intron 22 of factor VIII gene showed that the marker was informative in 4/5 study families and could be used in these families for the prenatal diagnosis of Haemophilia-A. In two families prenatal diagnosis was carried out by Chorionic Villus Sampling at 10-13 weeks gestation and the results in both the cases showed a carrier female fetus. CONCLUSION: Linkage based prenatal diagnosis of Haemophilia-A by an intragenic STR marker is feasible in most of the Pakistani families. The long term response of the Haemophiliac families to the availability of prenatal diagnosis remains to be seen. The STR marker can also be used for carrier detection of female subjects in the affected families.

Chorionic Villi Sampling↗
PubMed1989

[Chorionic villus sampling (CVS): level of activity and methods to resolve certain difficulties in interpretation].

As of December 1, 1988, we had, as part of our prenatal diagnostic service, studied 458 transcervical chorionic villus biopsies. Three-fourths of these samples were taken because of advanced maternal age (greater than or equal to 35 years), whereas nearly one fifth were done to alleviate parental anxiety. The remainder were performed because of a precedent chromosomal anomaly in child or parent, to determine fetal sex in the case of X-linked familial disorders, or to obtain DNA for molecular analyses. Among the cytogenetic anomalies detected after 24 to 48 hours of culture, eight involved classical trisomies. In four other instances the chromosomal abnormalities were more difficult to interpret (mosaic trisomies 10, 13 and 15, an apparently uniform trisomy 7). All four were revealed to be "false positives", since neither the amniocenteses nor the karyotypes of the normal newborns (one pregnancy is still ongoing) confirmed an abnormal karyotype. In the case of the trisomy 7 we were able, after birth of the baby, to study two placental biopsies, one of which revealed an abnormality distinct from that detected in the chorionic villi. The observations concerning a fifth false positive are more worrisome, as an apparently uniform trisomy 18, with a fetus showing growth retardation on ultrasound, could not be confirmed in the abortus. Otherwise, we have not encountered a false negative result. In this article we discuss the mechanisms potentially responsible for the cytogenetic discrepancies sometimes observed between fetal and placental tissues. Molecular analyses may help to establish whether a chromosomal anomaly present in fetal chorionic villi had its origin in the pre- or post-zygotic stage; in the latter case the aneuploidy may be uniquely extrafetal.

Chorionic Villi Sampling↗
PubMed1993

Predicting fetal chromosome anomalies in the first trimester using pregnancy associated plasma protein-A: a comparison of statistical methods.

The analysis of the clinical efficiency of a biochemical parameter in the prediction of chromosome anomalies is described, using a database of 475 cases including 30 abnormalities. A comparison was made of two different approaches to the statistical analysis: the use of Gaussian frequency distributions and likelihood ratios, and logistic regression. Both methods computed that for a 5% false-positive rate approximately 60% of anomalies are detected on the basis of maternal age and serum PAPP-A. The logistic regression analysis is appropriate where the outcome variable (chromosome anomaly) is binary and the detection rates refer to the original data only. The likelihood ratio method is used to predict the outcome in the general population. The latter method depends on the data or some transformation of the data fitting a known frequency distribution (Gaussian in this case). The precision of the predicted detection rates is limited by the small sample of abnormals (30 cases). Varying the means and standard deviations (to the limits of their 95% confidence intervals) of the fitted log Gaussian distributions resulted in a detection rate varying between 42% and 79% for a 5% false-positive rate. Thus, although the likelihood ratio method is potentially the better method in determining the usefulness of a test in the general population, larger numbers of abnormal cases are required to stabilise the means and standard deviations of the fitted log Gaussian distributions.

Adult↗
PubMed1993

Early prenatal diagnosis: the first 100 cases of chorionic villus sampling at Ochsner Foundation Hospital.

Chorionic villus sampling is an exciting addition to prenatal diagnosis. With this procedure, accomplished quickly and with minimal discomfort at 9 to 11 weeks of pregnancy, information can be obtained about the fetal chromosomal complement. In addition, the fetus can be tested for a variety of disorders, such as sickle-cell disease, Tay-Sachs, and cystic fibrosis. The majority of fetal studies are normal, and such early prenatal testing provides relief of anxiety and opportunity for early maternal-fetal bonding.

Abortion, Spontaneous↗
PubMed2000

The impact of maternal serum screening on the birth prevalence of Down's syndrome and the use of amniocentesis and chorionic villus sampling in South Australia.

OBJECTIVES: To describe the impact of maternal serum screening on the birth prevalence of Down's syndrome and on the use of amniocentesis and chorionic villus sampling in South Australia. DESIGN: A descriptive population-based study. SETTING: South Australia (population 1.48 million persons; approximately 20,000 births per year). PARTICIPANTS: Women who had births or terminations of pregnancy with Down's syndrome in 1982-1996, women who had maternal serum screening in 1991-1996, amniocentesis or chorionic villus sampling in 1986-1996. METHODS: Analysis of data from multiple sources on maternal serum screening, amniocentesis and chorionic villus sampling, births and terminations of pregnancy. MAIN OUTCOME MEASURES: Total prevalence and birth prevalence of Down's syndrome each year in 1982-1996; proportion of pregnant women using maternal serum screening in 1991-1996, and proportion using amniocentesis and chorionic villus sampling by indication in 1986-1996, by age group. RESULTS: Use of maternal serum screening for Down's syndrome increased from 17% when introduced in 1991 to 76% of women who gave birth in 1996. Between 1982 and 1986 and 1996, terminations of pregnancy for fetal Down's syndrome increased from 7.1 % to 75% and the birth prevalence of Down's syndrome fell by 60% from 1.05 to 0.42 per 1,000 births, against the background of an increase in total prevalence due to increasing maternal age. The use of amniocentesis increased from 5.8% in 1991 to 10.1% in 1996 mainly due to the increase among women younger than 35 years with maternal serum screening as the main reason. The increasing chorionic villus sampling rate among younger women stabilised at 0.4%, while the rate among older women decreased from 11.0% to 7.4%. CONCLUSIONS: The introduction of maternal serum screening in South Australia has resulted in increased use of any prenatal testing for Down's syndrome from about 7% (mainly older women having amniocentesis or chorionic villus sampling) to 84% of women (about 8% having direct amniocentesis or chorionic villus sampling and 76% having maternal serum screening first). This has resulted in a significant fall in the birth prevalence of Down's syndrome. maternal serum screening was the first indication of Down's syndrome for about half the terminations of pregnancy for Down's syndrome in 1993-1996, including three quarters of those in younger women.

Adult↗
PubMed1989

Prenatal diagnosis of phenylketonuria by haplotype analysis.

Prenatal diagnosis of classic phenylketonuria (PKU) was performed after chorionic villus sampling by means of linked restriction fragment length polymorphisms (RFLPs) using the cDNA probe ph PAH 247 (Kwok et al. (1985) Biochemistry, 24, 556-561). We report in this paper a PKU family who were only informative for RFLP analysis by a combination of two RFLPs on the basis of haplotype determination of the normal and mutant phenylalanine hydroxylase (PAH) alleles. The DNA analysis detected a PKU fetus homozygous for mutant PAH alleles and the mother opted for termination in the 12th week of gestation.

Chorionic Villi Sampling↗
PubMed1996

Mothers' reactions to prenatal diagnostic procedures and dexamethasone treatment of congenital adrenal hyperplasia.

A retrospective survey of mothers' attitudes toward and experiences of chorionic villus sampling, amniocentesis and dexamethasone (DEX) treatment was conducted in 38 women who underwent a prenatal diagnostic procedure for congenital adrenal hyperplasia because of a previously affected child (n = 37) or because the mother herself was affected (n = 1). Both diagnostic procedures were well tolerated and almost every woman said that the anxiety or discomfort associated with the procedure was far outweighed by the value of knowing whether or not her fetus was affected. The earlier diagnostic information provided by chorionic villus sampling was highly valued. Maternal side-effects of DEX were common (75%) and more than one-third of the women rated one or more side-effects as "severe' (weight gain, fatigue, stomach pain, irritability, facial hair growth). Many women expressed anxiety about possible short- and long-term side-effects of DEX on their unborn children and themselves but all said they would undergo DEX treatment again to prevent virilization.

Adrenal Hyperplasia, Congenital↗