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PubMed1991

[Biopsy of the chorionic villi with the aid of ultrasound in the diagnosis of chromosome disorders in the 1st trimester].

Chorion frondosum biopsy is a method of antenatal diagnosis based on the chorion villi cell analysis, with the aim of detecting hereditary disorders of chromosomal and genetic origin. The method was applied at the Department of Gynaecology and Obstetrics in women with undesired pregnancy from 8 to 12 weeks. This was the first phase of our investigation. Chorion frondosum samples were taken by Jackson's forceps and "Portex" cannula for transcervical aspiration. The role of ultrasound, as a component part of this method, is pointed out in the paper. Ultrasound was applied in a way not to damage the embryo and its membranes, and to locate chorion frondosum--the site of taking the appropriate chorionic villi. The success of detection of foetal chromosomal constitution in our study was 84%. Chromosomopathy was registered in on case. The foetus had tetraploidy--92, XXYY.

Chorionic Villi Sampling↗
PubMed1993

Chorionic villus sampling in a patient who is an unusual carrier of hemophilia B.

We describe a patient who is a carrier of hemophilia B, who was unusual in that she had symptoms and abnormal hematologic findings. She became pregnant and desired to have chorionic villus sampling for fetal sex determination. This was performed without complication. Her pregnancy continued, and she was delivered of a normal female infant with no complications for mother or infant. We believe this to be the first report of chorionic villus sampling in a symptomatic carrier of hemophilia B.

Adult↗
PubMed1991

Amniocentesis or chorionic villus sampling for prenatal genetic testing: a decision analysis.

We used decision analysis to examine the strategies of amniocentesis, chorionic villus sampling, and no prenatal testing for a pregnant woman who would be 35 years of age at the expected date of delivery. Probabilities were obtained from the obstetric and genetic literature, and utilities from previously published standard reference gambles and from responses of obstetric residents and students recorded on a linear rating scale. The expected utility of amniocentesis exceeded that of chorionic villus sampling by 0.1 utility units, and of no prenatal testing by 0.12 utility units. The decision was insensitive to clinically plausible values for the probabilities of spontaneous abortion after amniocentesis and chorionic villus sampling, the probabilities of abnormal and indeterminate chorionic villus sampling results, the probability of an abnormal amniocentesis result after an indeterminate chorionic villus sampling, the sensitivities and specificities of amniocentesis and chorionic villus sampling, and the probabilities of significant maternal morbidity after first- and second-trimester therapeutic abortion. Chorionic villus sampling was preferred to amniocentesis when the utility of a first-trimester therapeutic abortion exceeded that of a second-trimester abortion by 23.2 utility units, or when the anxiety "cost" of awaiting second-trimester amniocentesis results exceeded 0.1 utility unit. We conclude that over a range of assumptions concerning the probabilities involved in the prenatal testing decision, amniocentesis was preferred to chorionic villus sampling. However, for a decision maker for whom a second-trimester therapeutic abortion would be significantly less acceptable than a first-trimester procedure, or for whom the anxiety of awaiting second-trimester chromosomal diagnosis might be an important consideration, chorionic villus sampling could become the procedure of choice.

Adult↗
PubMed2002

Collection of villous tissue under ultrasound guidance to improve the cytogenetic study of early pregnancy failure.

BACKGROUND: The cytogenetic study of spontaneous miscarriage has been limited by poor karyotype success rates obtained from cell culture after surgical evacuation of retained products of conception. The aim of this study was to assess the effect of improving the method of collection of villous tissues at the time of surgery on the karyotype success rate of cell culture. METHODS: Villous samples were obtained prospectively from a cohort of 170 spontaneous miscarriages at the beginning of the surgical procedure using small biopsy forceps guided into the placenta by ultrasound imaging. This was compared with a retrospective series of 1191 spontaneous miscarriages, cultured in the same laboratory, following conventional collection of the sample from the aspiration recipient after surgery. RESULTS: In the prospective series, six (3.5%) of the original samples were classified by the laboratory as 'decidua only' as compared with 162 (13.6%) in the retrospective series. The karyotype success rate was 94.5% in the prospective series compared with 83.7% in the retrospective series. The karyotype results revealed a chromosome abnormality rate of 65.8% in the prospective group and 64% in the retrospective group with a similar distribution in both groups. CONCLUSIONS: Our data show that a karyotype can be obtained from clean villous material collected at the time of surgical evacuation of miscarriage. Thus, it is not justified to subject women to transabdominal chorionic villus sampling to achieve a high karyotype success rate.

Abortion, Spontaneous↗
PubMed1996

[Chorionic villus sampling in multiple pregnancies].

Prenatal genetic diagnosis is recommended in multiple pregnancies because of the increased prevalence of genetic abnormalities in such fetuses. It can be done early by chorionic villus sampling or later by amniocentesis. Several studies have demonstrated the efficacy and safety of chorionic villus sampling in multiple pregnancies. Our study describes the results of this method in a twin pregnancy and in 3 triplet pregnancies, which represent 3% of the chorionic villus samplings performed in our ultrasound unit during 1989-95. All genetically deformed fetuses in these pregnancies were identified by chorionic villus sampling and the method was not associated with fetal loss. Our results confirm the safety and efficacy of chorionic villus sampling as expressed in the world literature.

Chorionic Villi Sampling↗
PubMed2006

Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.

BACKGROUND: In the course of 25 years, we have experienced a high rate of affected fetuses in the prenatal diagnosis of citrullinemia. METHODS AND RESULTS: Ninety-one pregnancies at 1 in 4 risk were tested; 36 were diagnosed as affected (39.5%; P = 0.0015). The high rate of positive diagnoses was found both after chorionic villus sampling (24/68 = 35.3%) and amniocentesis (12/23 = 52.2%) despite the completely different and independent techniques used. Using exactly the same (indirect) enzyme assay for argininosuccinic aciduria on chorionic villi and a similar method on amniotic fluid, the expected rate of affected fetuses was found: 13/53 = 24.5%. Technical and genetic causes for the unexpected results were excluded by confirmatory studies performed on independent fetal material, which was available for 27 of the 36 fetuses affected with citrullinemia. Biochemical confirmation was obtained in the 27 cases, whereas in 18 fetuses homozygosity or compound heterozygosity for disease-causing mutations were retrospectively demonstrated in the stored fetal cells. CONCLUSION: The results suggest the occurrence of preferential transmission of the mutant allele. An explanation for this phenomenon may be found in a protective role of argininosuccinic acid synthetase deficiency in mutant sperm cells against the possibly detrimental or apoptotic effect of nitric oxide produced normally from arginine by nitric oxide synthase.

Amniocentesis↗
PubMed2005

Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection.

OBJECTIVES: The prenatal diagnosis of peroxisomal disorders is most often performed by biochemical analysis of cultured chorionic villus sample (CVS) or amniocytes. We aimed to (a) highlight the risk of maternal cell contamination (MCC) in biochemical prenatal diagnosis, (b) establish the threshold of these biochemical assays to MCC, and (c) document the sensitivity of PCR based genotyping of microsatellites for the detection of MCC in prenatal diagnosis of inborn errors by biochemical analysis. METHODS: The threshold of each biochemical assay was assessed by co-cultivating fibroblasts from known affected and normal individuals. Genotypes for three polymorphic loci were determined by PCR and GeneScan analysis. The sensitivity of the molecular test was determined by DNA mixing experiments and isolation of DNA from co-cultivated fibroblasts. RESULTS: MCC was detected in 2.5% of at risk CVS cultures (n = 79). Co-cultivation of defective and normal fibroblasts demonstrated that the peroxisomal biochemical assays were accurate at 25% contamination. Very low level DNA or cell contamination (1-5%) was detectable by genotyping, but an allele did not yield a definitive peak based on morphology until approximately 10% contamination. Furthermore, we demonstrated that other inborn errors of metabolism might be more susceptible to diagnostic error by low level MCC. CONCLUSION: The sensitivity of the microsatellite analysis (> or =10%) is well within the threshold of peroxisomal biochemical assays. Although peroxisomal biochemical assays would not be predicted to introduce a false positive or negative result if MCC <10% were present but not recognised by molecular analysis, the same may not be true for other inborn errors of metabolism.

Cell Culture Techniques↗
PubMed1989

Fetal limb constriction: a possible complication of CVS.

A case of fetal loss due to infection after first-trimester chorionic villus sampling is described. The fetus was born at 18 3/7 weeks and showed an annular constriction of one of the arms as seen in the amniotic band sequence. Induction of congenital defects might be one of the complications of chorionic villus sampling.

Abortion, Incomplete↗
PubMed1989

Practical experience using transabdominal chorionic villus biopsies taken after 16 weeks' gestation for rapid prenatal diagnosis of chromosomal abnormalities.

Placental biopsy was performed on 81 patients at greater than 16 weeks' gestation. The major indication for such biopsies was an increased risk of chromosomal abnormality because of either abnormal ultrasound findings or late presentations for advanced maternal age. Six abnormal karyotypes resulting in elective termination were found. The use of rapid karyotyping by this procedure as an alternative to amniocentesis or fetal blood sampling is discussed.

Chorionic Villi Sampling↗
PubMed1991

Comparison of transabdominal and transcervical CVS and amniocentesis: sampling success and risk.

A total of 2931 women randomized to either transabdominal CVS, transcervical CVS, or amniocentesis were studied. Unless intended or unintended abortion had occurred, they had completed up to 28 weeks of pregnancy. No significant difference was seen between total fetal loss in the transabdominal CVS group and the amniocentesis group (6.5 and 6.8 per cent, respectively, SE difference = 0.92 per cent, p = 0.01). The total fetal loss in the transcervical CVS group was 10.1 per cent. After pooling our data with data from the Canadian randomized study and the American non-randomized study, the difference in risk between transcervical CVS and amniocentesis was 1.8 per cent (SE difference = 0.64 per cent, p = 0.8). When the number of failed procedures and those cases evaluated as unfeasible for the assigned method--for anatomical reasons--are compared, the overall sampling efficacy is poorer transcervically than transabdominally.

Adolescent↗