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PubMedDate not supplied

Discrepancies in cytogenetic findings in chorionic villi.

We present a database and a review of published literature on discrepancies in chorionic villus (CV) diagnostic findings. The review includes 457 cases of discrepancies between CV findings (direct, culture, or both) and the fetus. One hundred and one cases reported normal by CV direct harvest included 30 with abnormal or mosaic abnormal fetal karyotype (30% false negatives). The corresponding number of false negatives for CV culture was only 4 cases out of 133 (3%). Assuming no bias in reporting cases based on site of discrepancy (assumption may not hold), these data imply that the probability of false-negative findings is 10-fold higher by CV direct method compared to CV culture method. We also reviewed recent studies reporting on large series of CV diagnosis. This review revealed that the reported overall frequencies of discrepancies as a percentage of abnormal and mosaic abnormal CV results ranged from 11 to 63% (a mean of 37%). These data, together with recent reports of survival of embryos with reported abnormal karyotypes because of confined placental mosaicism (CPM), raise several questions pertaining to the predictive value of CV sampling and the origin of the discrepancies in the fetal-placental unit. Caution is recommended in counseling patients undergoing CV sampling to provide appropriate follow-up studies in cases of possible discrepancies.

Chorionic Villi Sampling↗
PubMed2000

Early amniocentesis versus transabdominal chorion villus sampling for prenatal diagnosis.

BACKGROUND: A major disadvantage of amniocentesis is that test results are usually available only after 18 weeks gestation. Early amniocentesis can now be done between 9 to 14 weeks gestation. OBJECTIVES: The objective was to assess the safety and accuracy of early amniocentesis compared with chorion villus sampling. SEARCH STRATEGY: The Cochrane Pregnancy and Childbirth Group trials register and the Cochrane Controlled Trials Register were searched. Date of last search: October 1998. SELECTION CRITERIA: Randomised trials comparing early amniocentesis with transabdominal chorion villus sampling. DATA COLLECTION AND ANALYSIS: One reviewer assessed eligibility and trial quality. MAIN RESULTS: Three studies were included. Sampling failure was 0.4% in the early amniocentesis group compared to 2% in the chorion villus group (relative risk 0.23, 95% confidence interval 0.08 to 0.65). Consequently, more women in the chorion villus sampling group needed a second prenatal diagnostic test (relative risk 0.43, 95% confidence interval 0.21 to 0.88). There were no statistically significant differences in the laboratory failures (relative risk 0.43, 95% confidence interval 0. 17 to 1.10) or number of women with various chromosomal abnormalities (relative risk 0.51, 95% confidence interval 0.26 to 1. 04). Combined total pregnancy loss in the early amniocentesis group was 6.2% (57/915) compared with 5% (46/917) in the chorion villus sampling group (relative risk 1.24, 95% confidence interval 0.85 to 1.81). There were more spontaneous miscarriages after early amniocentesis (4.4% versus 2.3%, relative risk 1.92, 95% confidence interval 1.14 to 3.23). There was no difference in the incidence of neonatal respiratory distress and anomalies in the newborn infants. The incidence of talipes was greater in the early amniocentesis group, although haemangiomas were more common in the chorion villus sampling group. REVIEWER'S CONCLUSIONS: Current data suggest that early amniocentesis is associated with a greater risk of spontaneous miscarriage and neonatal talipes compared to transabdominal chorion villus sampling. An increased risk of these complications needs to be weighed against fewer technical difficulties and the possibility of fewer neonatal haemangiomas.

Amniocentesis↗
PubMed1995

An increased incidence of haemangiomas in infants born following chorionic villus sampling (CVS).

The incidence of haemangiomas was ascertained by questionnaire in infants born to 578 consecutive CVS patients and 445 consecutive mid-trimester amniocentesis patients seen at a single institution between 1 January 1989 and 31 May 1991. The incidence of 7.4 per cent reported in the amniocentesis group was comparable to previous estimates of the incidence of haemangiomas in the general population. In contrast, a 21.1 per cent incidence, three-fold higher than that observed in the amniocentesis group, was observed among CVS-exposed infants (P < 0.001). This increased incidence was largely confined to patients undergoing a transcervical procedure. No correlation was observed between the incidence of haemangiomas and gestational age at sampling, sample size, number of sampling attempts, or a history of bleeding following the procedure.

Abdomen↗
PubMed1999

The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. Collaborative Study. Association of Clinical Cytogeneticists Prenatal Diagnosis Working Party.

We report 611 non-mosaic and 91 mosaic findings of trisomies 13, 18 and 21, and numerical sex chromosome abnormalities in a series of 20,527 CVS, in the Association of Clinical Cytogeneticists U.K. Collaborative Study, the majority with analysis of both direct preparations and cultured cells. No false-positive results were encountered among the 611 non-mosaic cases, making these findings a very reliable indicator of the fetal karyotype. One false-negative case was reported. In contrast, the 91 mosaic abnormalities were unreliable predictors of fetal abnormality. Many were associated with normal outcomes, but a significant proportion of cases of each individual aneuploidy proved genuine. Mosaicism for 45,X, and trisomies 13 and 18 was disproportionately common. 17 of the mosaic cases showed complete discordance between the karyotype from direct preparations and that from cultured cells. All would have resulted in either a false-positive or a false-negative finding if only one technique had been used. Based on our experience, and that of others, we believe that the highest level of predictive accuracy using CVS can only be achieved if both direct preparation and cell culture are performed. In addition, we continue to recommend that all pregnancies demonstrating mosaicism for these aneuploidies at CVS undergo amniocentesis or fetal blood sampling to differentiate between confined placental mosaicism and true fetal karyotypic abnormality.

Aneuploidy↗
PubMed1996

Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome.

Fifteen pregnancies at risk for Lesch-Nyhan syndrome were investigated between 8 and 17 weeks' gestation by measurement of hypoxanthine-guanine phosphoribosyl transferase (HGPRT) and adenine phosphoribosyl transferase (APRT) enzyme activities in chorionic villus samples (cultured and uncultured) or in cultured amniotic fluid cells. Ten pregnancies had normal enzyme levels and a normal outcome while a further two predicted to be normal miscarried later in the pregnancy. Three pregnancies had low levels of residual HGPRT activity in chorionic villi. Comparable levels of residual activity in the index case in two pregnancies and in cells from the abortus in the third case confirmed that the pregnancies were affected.

Adenine Phosphoribosyltransferase↗
PubMed1990

Current assessment of fetal losses as a direct consequence of chorionic villus sampling.

Chorionic villus sampling has been developed as a method of first trimester prenatal diagnosis. In order to evaluate this new approach, accurate risk figures for the procedure must be obtained. This has been difficult for a number of reasons, including establishment of baseline fetal loss rates in the first trimester, procedural "learning curves," and reporting biases. This review will discuss these problems and use data from the chorionic villus sampling program at the University of California, San Francisco, to illustrate difficulties in data interpretation.

Abortion, Spontaneous↗
PubMed2001

Synthesis of evidence from epidemiological studies with interval-censored exposure due to grouping.

We describe a method for assessing dose-response effects from a series of case-control and cohort studies in which the exposure information is interval censored. The interval censoring of the exposure variable is dealt with through the use of retrospective models in which the exposure is treated as a multinomial response and disease status as a binary covariate. Polychotomous logistic regression models are adopted in which the dose-response relationship between exposure and disease may be modeled in a discrete or continuous fashion. Partial conditioning is possible to eliminate some of the nuisance parameters. The methods are applied to the motivating study of the relationship between chorionic villus sampling and the occurrence of terminal transverse limb reduction.

Biometry↗
PubMed1990

Selective feticide in twin pregnancy: a case report.

Selective feticide was performed at 15 weeks' gestation in a twin pregnancy where one fetus was found to have beta-thalassaemia major after diagnosis by chorionic villus sampling at 10 weeks' gestation. The technical, medical, legal and psychological problems are discussed in relation to this case.

Adult↗
PubMed1996

[Analysis of five mutations of cystic fibrosis occurring in the Hungarian population].

The authors screened 374 patients clinically diagnosed be affected by cystic fibrosis. Mutations delta F508, G542X, G551D, R553X, N1303K were analysed to obtain genetic diagnosis. The large number of patients involved in this study allowed for authors to present precise data of the frequencies of these mutations in Hungary. The frequency of mutation delta F508 is found to be significantly less then the numbers reported in other studies. This is due to sampling bias occurring at little sample sizes. Mutational analysis has been used as a tool of prenatal diagnosis.

Adult↗
PubMed1990

First-trimester maternal serum alpha-fetoprotein and human chorionic gonadotropin screening for chromosome defects.

The aim of this study was to determine the efficacy of combined maternal serum alpha-fetoprotein (MSAFP) and maternal serum human chorionic gonadotropin (MShCG) screening in detecting chromosome defects in the first trimester of pregnancy. Sera of 492 women (previously assayed for MSAFP) were analysed for MShCG under code without knowledge of cytogenetic results. Overall, 48 of 492 patients (9.8 per cent) had either an MSAFP multiple of the median less than or equal to 0.5 or an MShCG beta/alpha ratio multiple of the median less than or equal to 0.25, eight of whom had a fetus with a serious chromosome defect. A third of fetuses with Down's syndrome and 83 per cent with trisomy 18 were detected at a potential 'cost' of providing chorionic villus sampling or amniocentesis in 8.6 per cent of women screened.

Adult↗
PubMed2002

Prenatal diagnosis of alpha-thalassemia-1 (SEA type) by chorionic villus sampling.

OBJECTIVE: To describe the experience of prenatal diagnosis for Hb Bart's disease, by chorionic villus sampling (CVS) with DNA analysis. DESIGN: Descriptive study SETTINGS: Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University. SUBJECTS: Sixteen high risk pregnancies at risk of Hb Bart's disease who were eligible for CVS criteria between 1 January, 1999 and May 31, 2000. MATERIAL AND METHOD: Fetal villi were obtained by either transcervical (TC) or transabdominal (TA) CVS route to extract DNA and detect for alpha-thal-1 gene deletion (SEA type) with modified Chang's method. The CVS results were confirmed by either serial ultrasound or cordocentesis or diagnosis after pregnancy termination. MAIN OUTCOME MEASURES: The efficacy, safety and pregnancy outcomes. RESULTS: CVS was successfully done in all of 16 cases (5 with TC and 11 with TA), The mean gestational age was 13.25 +/- 2.9 weeks. The procedure time for TA was shorter than that of TC (4.64 +/- 5.4 vs 10.4 +/- 11.3 min). The CVS result showed as follows: 3 normal fetuses, 7 alpha-thal-1 carriers, 4 fetal Hb Bart's, 1 misdiagnosis and 1 failure to diagnosis due to technical error. The sensitivity and specificity were 100 per cent (4/4) and 90.91 per cent (10/11), respectively. One case of Hb Bart's misdiagnosis and one failure case were later confirmed for alpha-thal-1 trait and alpha-thal-1/ Hb E trait by cordocentesis, respectively. The pregnancy outcomes included 11 livebirths, 4 terminated cases and 1 fetal loss of continuing pregnancies. No serious complications occurred. CONCLUSION: This preliminary experience suggests that CVS is an effective method for early prenatal diagnosis of fetal Hb Bart's.

Chorionic Villi Sampling↗
PubMed2005

First trimester increased nuchal translucency associated with fetal achondroplasia.

A 30-year-old woman, gravida 2, para 1, was referred for nuchal translucency, free beta-human chorionic gonadotropin (beta-hCG), and pregnancy-associated plasma protein A (PAPP-A) screening at 12 weeks gestation. The nuchal translucency was increased to 3.8 mm, resulting in a post-test result of 1:15 risk for Down syndrome by a combination of maternal age plus nuchal translucency, and 1:5 by a combination of maternal age plus nuchal translucency plus free beta-hCG plus PAPP-A. The patient underwent uncomplicated chorionic villus sampling that demonstrated a normal 46,XY fetus. The patient was then followed-up weekly by ultrasound. At 18 weeks gestation, generalized features of rhizomelic micromelia together with macrocrania and narrow thorax were seen. All fetal long bones were less than 2 standard deviations from the mean value. At that time, DNA analysis was performed on stored villi and a G380R mutation in the locus gene encoding for the fibroblast growth factor receptor 3 on chromosome 4p16.3 was found, leading to a prenatal diagnosis of achondroplasia. The couple opted for termination of pregnancy after counseling. Postmortem X-ray was done and confirmed the ultrasound diagnosis of achondroplasia. This is the second known case of increased nuchal translucency in the first trimester associated with prenatal confirmed diagnosis of fetal osteochondrodysplasia.

Abortion, Induced↗
PubMed1994

A comparison of pregnancy loss between transcervical and transabdominal chorionic villus sampling.

OBJECTIVE: To evaluate the comparative safety of transcervical and transabdominal chorionic villus sampling (CVS). METHODS: From May 1988 to January 1992, CVS was performed by two operators at 9-12 weeks' gestation in 1048 singleton pregnancies. The sampling method for each patient, transabdominal or transcervical, was chosen primarily based upon placental location; the transabdominal route was used for anterior or fundal location and the transcervical route for posterior placentation. Perinatal outcome was assessed by post-procedure patient telephone contact, mid-gestation ultrasound evaluation, postpartum questionnaire completed by the referring obstetrician, and telephone interview with each patient after delivery. RESULTS: Complete follow-up was available in 1012 cases (97%). Excluding 39 elective abortions, 35 of 973 euploid pregnancies aborted spontaneously. The difference in fetal loss rate between transcervical and transabdominal CVS approached statistical significance (5.2 versus 2.9%; P = .058). Bleeding before CVS (P = .006) and multiple placental aspirations (P = .022) were associated with fetal loss for the entire study group. An interaction between uterine position and sampling method was also indicated; an increased loss rate was associated with transcervical CVS in the presence of uterine retroversion (P = .0017). CONCLUSION: Despite choosing the preferred CVS method for each patient, an increased loss rate may be associated with transcervical sampling in the presence of uterine retroversion.

Abdomen↗
PubMed1992

Use of the chemical cleavage of mismatch method for prenatal diagnosis of alpha-1-antitrypsin deficiency.

The most common mutation in alpha-1-antitrypsin deficiency, conversion of a G to an A at base 9989 (PI-Z), was detected with the chemical cleavage of mismatch method, demonstrating the power of the method for prenatal diagnosis. Exon V of the gene was amplified using the polymerase chain reaction and heteroduplexes were formed to test for the presence of the mutation. The predicted C mismatch was readily detectable with hydroxylamine, and by making the probe from the chorionic villus sample it was possible to determine that the fetus was heterozygous, not homozygous, for the mutation.

Autoradiography↗
PubMed1992

The risk and efficacy of chorionic villus sampling in multiple gestations.

Chorionic villus sampling (CVS) in the first trimester of pregnancy provides a safe and effective method for the early prenatal diagnosis of cytogenetic abnormalities in multiple gestations. In this multicentre study involving 126 twin and 2 triplet gestations primarily at risk because of advanced maternal age, the overall success rate of obtaining an adequate villus sample from each fetus was 99.2 per cent. For women of advanced maternal age, the rate of combined losses of chromosomally normal fetuses due to spontaneous abortion, stillbirths, and neonatal deaths was 5.0 per cent, compared with a 4.0 per cent total loss rate following CVS in singleton pregnancies derived from the same population (Rhoads et al., 1989). There was a 100 per cent success rate in obtaining a cytogenetic analysis; a cytogenetic abnormality was present in five of the multiple gestations (3.9 per cent) and involved seven fetuses (2.7 per cent). There were no diagnostic errors and no cases of normal cytogenetic diagnosis followed by the birth of a cytogenetically abnormal newborn. Based on cases of XX/XY admixture, cell contamination derived either from maternal decidua or the other twin occurred in 6 of 256 samples (2.3 per cent), giving an overall estimate of the frequency of cell contamination of 4.6 per cent; these cases did not present a diagnostic problem. However, there were two cases (0.8 per cent) in which the fetal sex was incorrect, due either to complete maternal cell contamination or to the possibility that in error one twin was sampled twice.

Abortion, Induced↗
PubMed1993

Transcervical CVS sample size: correlation with placental location, cytogenetic findings, and pregnancy outcome.

Data from 2907 transcervical CVS cases performed on singleton pregnancies were reviewed retrospectively and villus sample size was correlated with cytogenetic results, placental location, maternal age at the expected date of confinement (EDC), gestational age at the time of sampling, birth weight, gestational age at the time of delivery, and pregnancy outcome. No correlation was noted between villus sample size and maternal age, gestational age at sampling, gestational age at delivery, birth weight, or pregnancy outcome. An inverse correlation between villus sample size and percentage of abnormal cytogenetic findings was statistically significant (chi 2 = 8.53, p < 0.01). The percentage of small samples was greater when the placenta was anterior, lateral, or fundal than when the placenta was posterior.

Adult↗