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PubMed2003

Amniocentesis and chorionic villus sampling for prenatal diagnosis.

BACKGROUND: A major disadvantage of second trimester amniocentesis is that the result is usually available only after 18 weeks' gestation. Chorionic villus sampling (CVS) and early amniocentesis can be done between 9 and 14 weeks and offer an earlier alternative. OBJECTIVES: The objective was to assess comparative safety and accuracy of second trimester amniocentesis, early amniocentesis, transcervical and transabdominal CVS. SEARCH STRATEGY: We searched the Cochrane Pregnancy and Childbirth Group trials register (March 2003) and the Cochrane Central Register of Controlled Trials (The Cochrane Library, Issue 1, 2002). SELECTION CRITERIA: All randomised trials comparing amniocentesis and CVS. DATA COLLECTION AND ANALYSIS: Two reviewers assessed eligibility and trial quality and performed data extraction. We analysed the data using RevMan software. MAIN RESULTS: A total of 14 randomised studies have been included. In a low risk population with a background pregnancy loss of around 2%, a second trimester amniocentesis will increase this risk by another 1%. This difference did not reach statistical significance, but the increase in spontaneous miscarriages following second trimester amniocentesis compared with controls (no amniocentesis) did (2.1% versus 1.3%; relative risk (RR) 1.02 to 2.52). Early amniocentesis is not a safe early alternative to second trimester amniocentesis because of increased pregnancy loss (7.6% versus 5.9%; RR 1.29, 95% CI 1.03 to 1.61) and higher incidence of talipes compared to CVS (1.8% versus 0.2%; RR 6.43, 95% CI 1.68 to 24.64).Compared with second trimester amniocentesis, transcervical CVS carries a significantly higher risk of pregnancy loss (14.5% versus 11%; RR 1.40, 95% CI 1.09 to 1.81) and spontaneous miscarriage (12.9% versus 9.4%; RR 1.50, 95% CI 1.07 to 2.11). One study compared transabdominal CVS with second trimester amniocentesis and found no significant difference in the total pregnancy loss between the two procedures (6.3% versus 7%). Transcervical CVS is more technically demanding than transabdominal CVS with more failures to obtain sample and more multiple insertions. REVIEWER'S CONCLUSIONS: Second trimester amniocentesis is safer than transcervical CVS and early amniocentesis. If earlier diagnosis is required, transabdominal CVS is preferable to early amniocentesis or transcervical CVS. In circumstances where transabdominal CVS may be technically difficult the preferred options are transcervical CVS in the first trimester or second trimester amniocentesis.

Amniocentesis↗
PubMed2000

Reversed diastolic umbilical artery flow in the first trimester associated with chromosomal fetal abnormalities or cardiac defects.

BACKGROUND: Six cases have been reported of reversed end-diastolic umbilical artery (UA) blood flow at 10-14 weeks' gestation. Four were associated with chromosomal anomalies, and one showed congenital heart disease. CASES: This report describes two cases of reversed end-diastolic UA flow at 10 and 12 weeks' gestation with increased nuchal translucency in which cytogenetic analysis by chorionic villus sampling showed triploidy (69,XXX) and trisomy 9, respectively. In second case, the fetus had a ventricular septal defect. CONCLUSION: Reversed end-diastolic UA flow in the first trimester might be an important sign of chromosomal abnormalities in early pregnancy and might be a useful signal for the diagnosis of early cardiac defects.

Adult↗
PubMed1990

Prenatal identification of potential donors for umbilical cord blood transplantation for Fanconi anemia.

Reported here are studies of Fanconi anemia fetal cells that led to the first use of umbilical cord blood for hematopoietic reconstitution in a clinical trial. Prenatal diagnosis and HLA typing were performed in fetuses at risk for Fanconi anemia (FA) to identify, prior to birth, those that were unaffected with the syndrome and were HLA-identical to affected siblings. Umbilical cord blood was harvested at the delivery of these infants; assays of progenitor cells indicated the presence of colony-forming units-granulocyte-macrophage (CFU-GM) in numbers similar to those of bone marrow CFU-GM that are associated with successful engraftment in HLA-matched allogeneic bone marrow transplantation. The possibility that umbilical cord blood from a single individual can be used as an alternative to bone marrow for hematopoietic reconstitution has now been demonstrated by the successful engraftment of two patients with FA. Progenitor cell assays of umbilical cord blood collected at the birth of a child affected with FA, who had been misdiagnosed on the basis of chorionic villus sampling (CVS) studies, indicated a profound deficiency in colony formation, consistent with previously reported abnormalities in the growth of FA cells in vitro. These results suggest that the hematopoietic disorder in FA is related to an underlying problem with cell proliferation.

Blood Cell Count↗
PubMed2003

Hemophilia during pregnancy.

QUESTION: A patient in my clinic, who is 10 weeks into her first pregnancy and is a known carrier of hemophilia B, is considering the advantages and disadvantages of antenatal tests and is especially worried about a vaginal delivery thatmight cause bleeding. How should I manage her pregnancy? ANSWER: Many female carriers of hemophilia were found to have lower-than-expected levels of plasma factors, which are thought to be due to X chromosome inactivation. Chorionic villous sampling is the preferred test to determine the sex of the fetus and whether a male infant is affected with hemophilia. Vaginal delivery is not contraindicated and has been proven during the last two decades to be as safe as cesarean section. Vacuum extraction should be avoided to minimize risk of intracranial hemolysis and severe cephalhematoma.

Adult↗
PubMed2000

Down syndrome: prenatal risk assessment and diagnosis.

Down syndrome (trisomy 21) is the most commonly recognized genetic cause of mental retardation. The risk of trisomy 21 is directly related to maternal age. All forms of prenatal testing for Down syndrome must be voluntary. A nondirective approach should be used when presenting patients with options for prenatal screening and diagnostic testing. Patients who will be 35 years or older on their due date should be offered chorionic villus sampling or second-trimester amniocentesis. Women younger than 35 years should be offered maternal serum screening at 16 to 18 weeks of gestation. The maternal serum markers used to screen for trisomy 21 are alpha-fetoprotein, unconjugated estriol and human chorionic gonadotropin. The use of ultrasound to estimate gestational age improves the sensitivity and specificity of maternal serum screening.

Algorithms↗
PubMedDate not supplied

Application of DNA profiling to paternity testing during early pregnancy.

Four probes that recognize D2S44, D17S79, D4S163 and D18S27 loci, were used to produce DNA profiles of 8- to 10-week-old chorionic villus samples and from blood samples of their respective parents. A total of 30 pedigrees were analyzed. The results showed strict Mendelian inheritance. The cumulative paternity index (PI) and probability of paternity (W) obtained with D2S44, D17S79 and D4S163 loci were sufficient to exceed the required standard (PI > 369, W > 99.73) for assertion of paternity for all pedigrees tested. Therefore, these three loci are likely to satisfy the paternity test requirements in the majority of paternity cases, involving unrelated individuals, in the Chinese Han population. The other combinations of three loci did not produce high enough values for all cases, but all W values were > 98%. The results show that, using DNA from chorionic villi, these polymorphic loci can resolve cases of disputed paternity during early pregnancy.

China↗
PubMed1989

First trimester prenatal diagnosis by chorionic villus sampling. The Johannesburg experience with 48 cases.

Chorionic villus sampling (CVS) is a first trimester alternative to amniocentesis for the prenatal detection of genetic disorders. Initial experience in 48 patients, in whom transcervical CVS was utilised for the diagnosis of chromosomal, biochemical or molecular disorders, is reported. An adequate villus sample was obtained in all cases and a diagnostic result was achieved in 90% of cases. In this series, the miscarriage rate was 4.2%. It is concluded that CVS appears to be a relatively safe and reliable procedure, but the risk of miscarriage can only be accurately assessed after further investigation.

Chorionic Villi Sampling↗
PubMed2000

Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis.

We report the first direct molecular prenatal diagnosis, undertaken for the autosomal dominant form of dystrophic epidermolysis bullosa (DDEB). The proband had a moderately severe form of DDEB, with episodic blistering of skin and mucosal involvement. Diagnostic histopathological examination, using electron microscopy to evaluate skin from a fresh blister, demonstrated a zone of cleavage beneath the epidermal-dermal junction, thereby assigning the EB as dystrophic. DNA analysis of COL7A1, the gene encoding type VII collagen, identified a heterozygous transversion (G to A) in the triple helix domain (G2043R). For any subsequent pregnancy, the affected mother and the unaffected father of the proband requested prenatal prediction, which was thereafter carried out in DNA extracted from a chorionic villus sample obtained at 11 weeks of gestation. Restriction enzyme analysis of COL7A1 exons 73 and 74 amplified by PCR, demonstrated the presence of the G2043R mutation, and the pregnancy was subsequently terminated. Molecular analysis of DNA extracted from fetal tissues confirmed the prenatal prediction.

Base Sequence↗
PubMed1990

Fetal loss rate after chorionic villus sampling and subsequent amniocentesis.

Here we review a group of 82 patients who underwent both chorionic villus sampling (CVS) and amniocentesis in the same pregnancy during the period May 1984-May 1988. A fetal loss rate of 2.5% is documented. This is not essentially different from the sum of fetal loss rates following each of the procedures separately (CVS, 1.9%; amniocentesis, 1.0%) established during the same period.

Amniocentesis↗
PubMed1990

Parental perceptions of genetic risk: correlation with choice of prenatal diagnostic procedures.

Determinants of patients' decisions to have prenatal diagnosis, and by which test (amniocentesis or chorionic villus sampling), is not well understood. We have administered questionnaires to couples referred for genetic counseling and procedures for advanced maternal age and determined patients' responses, decisions, and attributable determinants of their choice. Differences in perception of risks between partners, and choice of procedure, correlated with socioeconomic, educational status and age.

Adult↗
PubMed1994

Preferences of pregnant women for amniocentesis or chorionic villus sampling for prenatal testing: comparison of patients' choices and those of a decision-analytic model.

Decision analytic models have suggested that the choice of amniocentesis or chorionic villus sampling for prenatal genetic testing is a utility-driven decision. We compared preferences for prenatal testing among 156 pregnant women who had chosen either amniocentesis (n = 82) or chorionic villus sampling (n = 74) for the indication of maternal age. We also compared their choices with those of a decision-analytic model based on their preferences, and age-specific rates of spontaneous abortion and chromosomal abnormalities. Preferences were assessed using written scenarios describing potential outcomes of prenatal testing, and were recorded on linear rating scales. The differences in preference ratings for first- vs second-trimester prenatal diagnosis of a normal child (4.2 vs -1.6, p = 0.0004), and for first- vs second-trimester abortion of an abnormal fetus (4.4 vs -1.6, p = 0.01), were significantly greater among women choosing chorionic villus sampling than among women choosing amniocentesis. There were no significant differences between chorionic villus sampling and amniocentesis patients in their preference ratings for test-related miscarriage, disconfirmed results at pregnancy termination, or maternal morbidity from therapeutic abortion. After adjusting for demographic and obstetric factors, the difference in preferences for early vs late prenatal diagnosis was an independent predictor of the choice of chorionic villus sampling in a multivariate model. Among women whose decision analyses selected amniocentesis, 56.8% had chosen amniocentesis, and among women whose analyses selected chorionic villus sampling, 63.2% had chosen chorionic villus sampling (p = 0.05). We conclude that the preferences of pregnant women for the outcomes of prenatal testing were associated with their choice of amniocentesis or chorionic villus sampling. In addition, the choice of prenatal test made by the majority of women was concordant with that of a decision-analytic model that incorporated their preferences. Nevertheless, because many women made choices that were discordant with their decision-analytic results, further research into the bases for their choices is warranted.

Abortion, Induced↗
PubMed2003

[Webbing of the neck and nasal bone--prenatal screening for Down syndrome].

The risk of giving birth to a child with Down syndrome increases with maternal age. If in Denmark the mother is older than 35-years she belongs to a high-risk group and will be offered amniocentesis or chorionic villus sampling. We describe different scenarios of risk calculation for Down syndrome based on combinations of nuchal translucency, nasal bone, and/or integrated hormone test. The combination of nuchal translucency and visualisation of the nasal bone between gestational age 11 weeks and 13 + 6 has turned out to be as good a predictive marker as nuchal translucency and integrated hormone test.

Adult↗
PubMed1990

Chorionic villus sampling as the primary diagnostic tool in prenatal diagnosis. Should it replace genetic amniocentesis?

Recent studies in Canada and the United States have shown that chorionic villus sampling (CVS) is both safe and accurate, with a fetal loss rate likely slightly higher than that of amniocentesis but still at an acceptable level (1%). Although CVS may become the dominant prenatal diagnosis procedure, it is unlikely that it will completely replace amniocentesis. The two procedures are essentially complementary in the provision of prenatal diagnosis in the first and second trimesters.

Amniocentesis↗
PubMed1995

Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample.

Marfan syndrome (MFS) is one of the most common heritable connective tissue disorders and is caused by mutations in a gene coding for fibrillin-1. All but one of over 30 published mutations have been unique and specific prenatal diagnostics can only be provided to families with a previously established mutation. We have earlier identified a 366 bp deletion of fibrillin mRNA in a three-generation British Marfan family. An affected female in the family together with her husband sought prenatal diagnosis. Chorionic villus sampling was performed at 11.5 weeks of gestation and total RNA was directly extracted from the sample. After reverse transcription and polymerase chain reaction (PCR) of the cDNA, the same deletion was identified in the chorionic villus sample (CVS) and the mother's sample in agarose gel electrophoresis. The fetal origin of the CVS was confirmed with polymorphic markers. In addition to the mutation analysis, CVS cells of the proband and a control fetus were cultured for biochemical studies of fibrillin polypeptides. The results of the biochemical investigation were in concordance with the molecular analysis.

Adult↗
PubMed1999

Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation.

Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders in humans with an incidence of 1 in 3500. Most of the NF1 mutations reported so far (over 240 mutations) are unique. Specific prenatal diagnosis can only be provided to familial cases by an indirect linkage analysis or to families with a previously identified mutation. Here we report the first prenatal diagnosis in sporadic NF1 by direct characterization of the mutation. We first identified the skipping of exon 10b of NF1 in the mRNA from a woman affected by NF1 and without familial history of the disease. The analysis of genomic DNA identified mutation IVS10b+1G-->A as the cause of the skipping of exon 10b. Chorionic villus sampling (CVS) was performed at 10 weeks of gestation and total RNA was directly extracted from the sample. After reverse transcription (RT) and polymerase chain reaction (PCR) of the cDNA, the skipping of exon 10b was not identified in the CVS upon agarose gel electrophoresis. The fetal origin of the CVS was confirmed via polymorphic markers and the absence of the IVS10b+1G-->A mutation was confirmed by genomic analysis.

Adult↗
PubMed1992

Chorionic villus sampling: the University of Maryland experience.

The University of Maryland was the first program in the state to offer chorionic villus sampling (CVS). Since the program's beginning in 1984, 998 patients have been seen with successful sampling in 99.1 percent, using both transcervical and transabdominal approaches. The overall loss rate was quite low (2.3 percent), and no increased risk of birth defects was seen. These observations demonstrate that CVS provides a safe and accurate alternative to amniocentesis.

Abortion, Eugenic↗
PubMed1991

Molecular screening of cystic fibrosis patients.

A method for the direct direction of the delta F508 mutation in the cystic fibrosis gene has been developed and applied to the analysis of over 280 individuals including 104 individuals with cystic fibrosis. This technique allows the rapid analysis of DNA from whole blood, Guthrie card blood spots, and the antenatal diagnosis of cystic fibrosis from chorionic villus biopsy samples. Based on these analyses, the delta F508 mutation is found in 77.88% of cystic fibrosis chromosomes in New Zealand cystic fibrosis patients. Thus this test can be used to establish a direct DNA diagnosis in over 60% of cystic fibrosis patients. Approximately a further 30% are heterozygous for this mutation.

Alleles↗
PubMed1997

Prospective prenatal diagnosis of Prader-Willi syndrome due to maternal disomy for chromosome 15 following trisomic zygote rescue.

We present a prenatal predictive diagnosis of Prader-Willi syndrome arising as a result of maternal heterodisomy for chromosome 15. The diagnosis arose following chorionic villus sampling which showed a mosaic trisomy 15 karyotype with a chromosomally normal follow-up amninocentesis. Molecular studies on DNA extracted from cultured amniocytes showed no evidence of a paternal allele at two widely separated loci and this was taken as evidence of maternal disomy predictive of Prader-Willi syndrome in the fetus.

Adult↗