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PubMed1993

[Fetal chromosome abnormalities diagnosed by chorionic villi sampling].

Chorionic villus sampling was performed for chromosome analysis in 387 cases during a 4-year-period. In 115 cases transcervical while in 272 cases transabdominal sampling was carried out. Chromosomal abnormalities were found in 25 cases (6.4%). Autosomal trisomies occurred in 17 cases, structural anomalies in 2 cases and sex chromosomal aberrations in 6 cases. The pregnancy was terminated in 19 cases because of chromosome abnormality, in 5 further cases because of X-linked disease and male fetus. After transcervical sampling spontaneous abortion occurred in 7 cases (5.8%), while after transabdominal sampling in 8 cases (2.8%). The authors prefer in their practice the early transabdominal CVS, which can be performed safety already at the end of the first trimester.

Chorionic Villi Sampling↗
PubMed1990

Current method for first and second trimester prenatal diagnosis: transabdominal chorionic villi sampling.

Transabdominal CVS (chorionic villi sampling) was performed in 40 patients belonging to first or second trimester of pregnancy with 97.5% success, using a double and later single needle technique with no immediate complications. Karyotyping by direct method was successful in 75% of samples thus indicating the feasibility of cytogenetic analysis using villus tissue from first and second trimesters of pregnancy. It is a safe, simple, rapid and practical method of prenatal diagnosis in first and second trimesters of pregnancy with a potentially lower risk for fetal and maternal complications.

Chorionic Villi Sampling↗
PubMed1989

[Chorionic villi sampling. Results with the first 500 samples].

531 chorionic villi forceps biopsies were carried out, to look for genetic diseases. Sampling was impossible in 24 cases (4.5%). The following indications were chosen: maternal age over 38 years: 361 cases; parental chromosome abnormality: 28 cases; previous history of chromosome abnormality: 21 cases; X-linked disease: 77 cases; metabolic disease: 32 cases; hemoglobinopathy: 7 cases; blood group determination: 5 cases. An elective abortion was carried out in 44 cases (8.7%), whereas 465 pregnancies were not interrupted. Full term has been reached in 327 pregnancies. The rate of miscarriage in this group is 3.9% (13 miscarriages out of 327 pregnancies followed). The results obtained at the Saint-Vincent-de-Paul Hospital show that the cytogenetic technique is reliable, and that the low risk of sampling allows its application in the diagnosis of chromosome anomalies.

Adult↗
PubMed1988

Chromosome analysis in chorionic villi samples from the first trimester elective terminations.

Chorionic villi sampling (CVS) has become a first trimester alternative to amniocentesis for prenatal diagnosis. The cytogenetic findings in 150 experimental samples are presented. The ages of the mothers ranged from 12 to 35 years, but the majority of them were 18 and 19 years of age. Various parameters of culturing and processing the samples in order to improve the method, were investigated. Short term incubation for 48 h was the method routinely employed in processing the biopsies for cytogenetic analysis. In the first series of 100 cases one mosaic case (46,XX/45,X), one Robertsonian translocation (13;14), one marker chromosome and one fragment were found. The foetal tissues were not analysed for chromosomes. In the second series of 50 samples, one case of mosaicism was found in the chorionic villi (46,XX/47,XX, 18q-), but this abnormality was absent in the foetal tissue. One variant inv(9) was observed in the foetal tissue as well as in the chorionic villi. In all other cases the karyotypes from the chorionic villi samples matched those of the corresponding foetal samples. There was no maternal contamination in this series of 50 samples. The discrepancies in the cytogenetic results from other investigators are discussed.

Chorionic Villi↗
PubMed1986

First trimester chorionic villi sampling and direct chromosome preparations.

Chorionic villi sampling was performed on 52 patients prior to elective termination of their pregnancies. Villi were obtained in 42, and direct chromosome preparations were successful in 41 of them. The use of a mixture of 0.075 M potassium chloride and 1% sodium citrate in the ratio of 2:1 for hypotonic treatment and 40% acetic acid for cell dispersal yielded chromosomes with good morphology and G-bands.

Biopsy, Needle↗
PubMed1985

Chorionic villi sampling: clinical experience, immediate complications, and patient attitudes.

To develop chorionic villi sampling as a procedure for prenatal diagnosis, a pilot study was undertaken to perfect the obstetric and laboratory techniques, to evaluate our success with the procedure in continuing pregnancies, and to assess the attitudes of potential users of the procedure. Women about to have elective first-trimester abortions for nongenetic reasons were enrolled in the first phase of the study. Of the patients with a positive pregnancy test, 12.4% were found to have a nonviable pregnancy on ultrasound examination. Samples adequate for cytogenetic analysis were obtained in 130 of the 155 remaining cases, and the success rate was 93% in the 100 most recent cases. Direct cytogenetic analysis was undertaken in those cases successfully sampled, and karyotypes could be prepared in 97%. Immediate complications occurred in 5% of the pregnancies. Eight women at risk of bearing a child with a genetic defect had diagnostic chorionic villi sampling. Cytogenetic analysis was performed successfully on all of them. One had an induced abortion following the procedure because of the fetal diagnosis (a male with a 50% risk of Duchenne's muscular dystrophy). The other pregnancies are continuing uneventfully at 22 to 35 weeks' gestation. Finally, from preliminary analysis of our survey of potential users it appears that women 35 years old or over would prefer chorionic villi sampling to amniocentesis if the risks of the sampling were known to be low.

Adult↗
PubMed1986

Acceptability of chorionic villi sampling for prenatal diagnosis.

The factors that influence women in choosing between first-trimester chorionic villi sampling and second-trimester amniocentesis for prenatal diagnosis were investigated. Five hundred twenty women of advanced maternal age who had previously undergone prenatal diagnosis by amniocentesis and were delivered of a normal infant were requested to complete a questionnaire concerning their attitudes toward amniocentesis and chorionic villi sampling. The majority of respondents indicated that the time at which chorionic villi sampling is performed (76%), the rapid availability of diagnostic results (72%), and the type of abortion procedure available (68%) would make them choose this method. In contrast, the factors that influenced women to choose amniocentesis included the known low risk of spontaneous abortion (76%) and confidence in the skill of the obstetrician who would perform the procedure (56%). When all factors were considered together, 68% of the respondents chose amniocentesis based on the known low risk of spontaneous abortion, whereas for those who chose chorionic villi sampling (32%), the major criterion was the fact that the procedure is performed in the first trimester. However, 87% of women who preferred amniocentesis indicated that if the risk of spontaneous abortion associated with chorionic villi sampling. These results indicate that for many women of advanced maternal age, the acceptability and the use of chorionic villi sampling will be dependent on the demonstration that the risk of fetal loss is low, approaching that of amniocentesis.

Abortion, Spontaneous↗
PubMed1983

Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy.

Chorionic villi were obtained by an aspiration technique which proved to be the best of four alternative procedures. We report in detail the series of experiments which led to (1) successful, rapidly growing cell cultures practically free of maternal cell contamination (the use of hormone-supplemented Chang medium greatly increased the growth rate); (2) an efficient direct method to obtain high quality metaphases from the Langhans cells of the cytotrophoblast tissue and with which the fetal karyotype is defined within a few hours of chorionic villi sampling; and (3) successful testing for the activity of eight enzymes directly from the villi samples, thus showing that this material is suitable for a rapid, direct diagnosis of the related metabolic diseases.

Catheterization↗
PubMed1987

Chorionic villi sampling: cytogenetic and clinical findings in 500 pregnancies.

The cytogenetic findings were analysed in a series of 500 pregnancies in which chorionic villi sampling was performed. In all cases a direct method was used, karyotyping being successful in 481 cases (96.2%). The main indication for sampling was maternal age over 36 (412 cases; 82.4%). Abnormal laboratory findings resulted in 24 terminations of pregnancy (4.8%); in addition five unexpected balanced chromosome rearrangements were detected. Twelve of 15 cytogenetic discrepancies were detected at amniocentesis, two after termination, and one at spontaneous abortion. Complete follow up data were available for the first 250 patients, among whom nine pregnancies (3.6%) ended in spontaneous abortion before the 20th week. There were no false negative findings. Seventy additional chromosome studies were performed because of failure of chorionic villi sampling or equivocal results, or for confirmation. Counselling before chorionic villi sampling should include the possibility that subsequent amniocentesis may be needed should mosaicism or other unexpected abnormalities be found. The success rate and accuracy of karyotyping chorionic villi samples by the direct method are acceptable but distinctly less than those of karyotyping cultured amniotic fluid cells.

Abortion, Spontaneous↗
PubMed1987

Emotional responses of pregnant women to chorionic villi sampling or amniocentesis.

Seventy-four "high-risk" pregnant women interested in participating in a clinical trial comparing chorionic villi sampling and amniocentesis were initially assessed on five background measures and for anxiety, depression, hostility, and concern about abortion. The 61 women who then agreed to be randomized into the chorionic villi sampling and amniocentesis groups were assessed three additional times between 9 and 22 weeks' gestational age. Physical discomfort experienced during the diagnostic procedure was also assessed. Women in the chorionic villi sampling group underwent a reduction in anxiety up to 10 weeks earlier and reported less procedure-related discomfort than women in the amniocentesis group. The group X time interaction for depression was also significant, with women undergoing chorionic villi sampling reporting an earlier decrease in depression than women undergoing amniocentesis. No differences were found between the two groups in hostility or concern about abortion. Findings were discussed in the context of evidence linking prenatal maternal emotionality to an increased risk of obstetric complications.

Amniocentesis↗
PubMed1988

A comparison of chorionic villi sampling and amniocentesis: acceptability of procedure and maternal attachment to pregnancy.

Sixty-one women with high-risk pregnancies participated in a clinical trial comparing chorionic villi sampling and amniocentesis. They were assessed initially on five background measures and maternal attachment to the fetus, then were randomly assigned to either chorionic villi sampling or an amniocentesis group. Women were further assessed for maternal attachment three times during pregnancy. During the final assessment, those who were planning future pregnancies were asked which of the two procedures they would prefer. No differences between groups were found on any of the five background measures. All 31 women who considered future pregnancies indicated a preference for chorionic villi sampling, regardless of the procedure they underwent during the study. Women receiving chorionic villi sampling reported significantly greater attachment during the second trimester than did women receiving amniocentesis, who viewed themselves as being less attached than other pregnant women during this period. The findings were interpreted as evidence for attachment suppression among women undergoing amniocentesis.

Amniocentesis↗
PubMed1984

Chorion villi sampling (CVS) for prenatal diagnosis of genetic disorders: first results and future research.

Chorion villi sampling (CVS) in the first trimester of pregnancy has become available recently as an alternative method to second trimester amniocentesis for prenatal diagnosis of genetic defects. Currently there are six different tissue sampling techniques being investigated in different centers around the world, but there are very few trials in ongoing pregnancies. From chorionic villi material cytogenetic and biochemical studies as well as DNA analyses can be performed. Different methods of chromosome analysis are being investigated at the University of California San Francisco and elsewhere to determine the most efficient and reliable techniques. Larger studies will be needed to establish the efficacy and the safety of the chorionic villi sampling procedure for the mother and the developing fetus. Although CVS is preferable to amniocentesis for psychological and medical reasons (earlier elective termination of a fetus with a genetic disorder), many questions remain to be answered in carefully controlled studies.

Adult↗
PubMedDate not supplied

Chorionic villi sampling: a nursing perspective.

A relatively new procedure, chorionic villi sampling is now available as an alternative method for prenatal diagnoses of genetic disorders during pregnancy. Indications, procedures, risks, advantages, and nursing implications of this procedure are defined and described. Readers are thereby provided with current information concerning prenatal genetic diagnosis that may be passed on to patients in need of this information.

Biopsy, Needle↗
PubMed1985

Chorionic villi sampling: women's attitudes.

To determine the acceptability of chorionic villi sampling (CVS) to women eligible for prenatal diagnosis, we undertook a survey to identify aspects of this new procedure that made it more or less preferable than amniocentesis. All women greater than or equal to 35 years scheduled for amniocentesis were asked to read some detailed descriptive material about amniocentesis and CVS, to rate the importance of the specific differences between procedures, and to indicate which procedure they would prefer, first considering each difference between them independently and then considering all the factors jointly. In the absence of precise estimates of CVS-associated risk at the time of the survey, almost equal proportions preferred amniocentesis and CVS (50.2 and 45.1%, respectively). Risk information was the most important factor to women preferring amniocentesis; the timing of the test or nature of the termination procedure was most important to those preferring CVS. In the hypothetical case where CVS was stipulated to have the same attributable risk as amniocentesis, 82% of respondents would prefer it. However, if the spontaneous abortion rate following CVS was stipulated to be 5% more than the amniocentesis risk, preferences reversed and only 22% would still prefer it. Thus, the data suggest that the ultimate acceptability of the new procedure for women over 35 years seeking prenatal diagnosis will depend on the risk associated with it and underscore the importance of ongoing trials aimed at establishing this risk.

Abortion, Induced↗