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Transabdominal chorionic villi sampling for first trimester fetal diagnosis. First 26 pregnancies followed to term.

A consecutive series of 26 women followed to term after first trimester transabdominal chorionic villi sampling is presented. The clinical application of transabdominal chorionic villi sampling (TA-CVS) seems to have certain advantages, especially from the patients' point of view, but also in regard to successful sampling and to the complication ratio. The results in this clinical trial revealed no cases of abortions, no signs of placental damage and no cases of vaginal bleeding or infections.

Adult↗

Prenatal diagnosis and the Canadian collaborative randomized trial of chorionic villi sampling: the physician's view.

Women eligible for the Canadian randomized trial of chorionic villi sampling (CVS) often cite physician influence as a reason for refusing to participate. To measure directly physicians' attitudes to and knowledge of prenatal diagnosis (PND), amniocentesis, CVS, randomized trials, and the Canadian trial, a 3-page questionnaire was mailed to all registered obstetricians in British Columbia (BC) and in Montreal (Mtl). The overall response rate was 70%. Most physicians thought PND was important and that it was their role to discuss and advise PND to their patients. Physicians were split in their preferences for amniocentesis or CVS (32% vs. 34%); reasons for their preferences paralleled those given by women studied previously by us. Physicians who thought CVS was too experimental, who were hesitant about the trial or who were less likely to discuss the study with patients were older, less likely to have participated in a randomized trial previously and less comfortable with randomization and discussing uncertain risks with patients. Mtl physicians were less aware and more hesitant about the Canadian trial than those in BC. Moreover, Mtl physicians were more likely to consider the ongoing trial inappropriate and too experimental than BC physicians. Because physicians act as "gatekeepers," educating them about new technologies and about randomized studies is essential for ensuring both participant's access to a new procedure and success of the randomized trial.

Attitude of Health Personnel↗

[Prenatal diagnosis of hereditary diseases using chorionic villi].

The paper is based on the first results of a preliminary study of the cytogenetic analysis of chorionic villi samples. Chorionic villi were obtained from 31 women undergoing artificial abortion in the first trimester of pregnancy. The tissue was used for direct chromosome preparations and sex-chromatin examinations (X and Y body). The results suggest the possibility of a simple and quick prenatal determination of fetal sex in the first trimester and the provision of a sufficient number of mitosis with well-spread chromosomes. This new method may become the method of choice in prenatal diagnosis after being thoroughly examined and verified.

Chorionic Villi↗

Chorionic villi sampling: a new technique for detection of genetic abnormalities in the first trimester.

Chorionic villi sampling (CVS) was performed on 22 patients who were at risk for a variety of genetic disorders between 8.5-11 weeks of gestation to determine whether the developing fetus had a chromosomal and/or biochemical disorder. A thin Portex catheter was passed transcervically into the chorion frondosum under constant real-time ultrasound guidance, and chorionic villi were obtained by gentle suction. The villi, which have the same genotype as the fetus, were processed directly for chromosomal and/or biochemical analysis. Results were available within six to 24 hours and were confirmed by short term cell cultures within three to ten days. One fetus affected with Tay-Sachs disease and one fetus with trisomy 16 were detected. There were no instances of fetal loss or major complications. In contrast to amniocentesis, the procedure is performed early in pregnancy and results of the genetic testing are available during the first trimester, which allows a first trimester termination of pregnancy if an abnormality is detected and greatly reduces parental anxiety if the findings are normal. We believe that CVS offers an alternative to amniocentesis in the detection of genetic disorders.

Catheterization↗

Health-related quality-of-life assessment of prenatal diagnosis: chorionic villi sampling and amniocentesis.

This study assesses the health-related quality-of-life (HRQL) effects of chorionic villi sampling (CVS) and genetic amniocentesis (GA), including both process and outcomes of prenatal diagnosis. The HRQL of 126 women participating in a randomized controlled clinical trial of CVS versus GA in Toronto and Hamilton, Ontario, was assessed in four interviews at weeks 8, 13, 18, and 22 of pregnancy. Statistical analyses included analysis of variance, repeated measures analysis of covariance, chi-square, Fisher's exact test, Student's t-tests, and paired t-tests. Utility scores for patients undergoing CVS exceeded those for GA patients at week 18 (p = 0.04). Utility scores for hypothetical health states did not differ significantly by trial arm. CVS results in slightly improved HRQL during prenatal diagnosis. This advantage needs to be weighed against the high disutility patients attach to infrequent outcomes associated with pregnancy losses, equivocal diagnoses, and diagnostic inaccuracy.

Adult↗

[Randomized comparison of transabdominal, transcervical chorionic villi sampling and amniocentesis].

The transabdominal chorionic villus sampling method was compared with the transcervical route and second trimester amniocentesis in a 3-winged randomised trial. Examination of 45 epidemiological variables showed the three procedure groups to be comparable at enrollment. In 3079 women at low genetic risk, we compared transabdominal with transcervical chorionic villus sampling and amniocentesis. The total fetal loss was 10.9%, 6.3% and 6.4% in the transcervical, transabdominal chorionic villus sampling groups and the amniocentesis group, respectively (p < 0.001). The two CVS procedures were compared in 2882 low and high genetic risk women with cytogenetically normal fetuses. Rates of unintended post-procedure loss were 3.7% and 7.7% for transabdominal CVS and transcervical CVS, respectively (p < 0.001), difference in rates 4.0%, 95% C.I. +2.3% to +5.8%. By a priori ultrasound scanning, more transcervical than transabdominal procedures (p < 0.001) were considered to be inaccessible for sampling. Our data indicate that transabdominal allows freer access to the placental site than transcervical sampling and is easier to adapt to than transcervical CVS. Women run comparable risks with transabdominal CVS and amniocentesis. Given the results of our study, transabdominal procedures remain the first choice for prenatal diagnosis and, since in our hands transcervical sampling entails an increased fetal risk, we have abandoned transcervical CVS in our two study centres.

Adult↗

Cytogenetic analysis of 570 first trimester chorionic villi samplings: technique and results.

In this report we present our experience based on 570 chorionic villi samplings performed by the transcervical method at 8 to 12 weeks gestation. Cytogenetic results were obtained for 551 samples, hence a failure rate of 3.33%. The previously described technique was modified by prolonging the incubation period to 48 hours. The total number of abnormalities was 26, which represents 4.71% of our sample. Of 24 chromosomal abnormalities, 21 were unbalanced and 3 were balanced of parental origin. Five discordant cases are thoroughly discussed.

Chorionic Villi↗

Fetal mortality at the time of chorionic villi sampling.

To estimate the background fetal loss rates among women who might be candidates for chorionic villi sampling (CVS) for prenatal diagnosis, we examined the frequency of spontaneous abortion and of non-viable fetuses in two groups of women thought to be pregnant at 8-12 weeks' gestation. Among 1519 women over 35 years given an appointment for amniocentesis 1978-1981, 9.8% had a spontaneous abortion prior to 16 weeks' gestation. For those under observation before week 12, the loss rate by 16 weeks was 15.3%. Among all 190 candidates for elective termination of pregnancy between 6 and 12 weeks' gestation, 12.6% were found to have a non-viable fetus at the scheduled date of abortion. The frequency of non-viability was 14% among those seen before week 12. The data suggest that the background loss rate between the time of CVS and the time of amniocentesis is approximately 1-2% and is unlikely to be higher than 9%. Until randomized clinical trials of the procedure are completed we will not know how much, if at all, the loss rate associated with CVS is increased above this background. Nevertheless, knowledge of these background risk estimates may be useful in counseling women considering participating in trials of CVS.

Abortion, Spontaneous↗

Chorionic villi sampling changes maternal serum alpha-fetoprotein.

Second trimester amniocentesis has traditionally been utilized for prenatal genetic diagnosis. Chorionic villi sampling (CVS) is presently offered as an alternative. The occurrence of fetomaternal bleed (FMB) during CVS could increase the rate of post sampling abortion and, additionally, be of significance in patients at risk for isoimmunization. Detection and quantitation of FMB can be accomplished by the determination of changes in maternal serum alpha-fetoprotein (MSAFP) before and after CVS.

Biopsy↗

[Chorionic villi sampling: choice of transcervical or transabdominal routes preferable to use of transcervical route exclusively].

Between November 1985 and June 1990 we performed 400 first trimester chorionic villi samplings (CVS). In the first 107 cases only transcervical CVS was performed, regardless of placental location. Later, 163 transcervical and 130 transabdominal CVS were performed, depending on placental location. Anterior and fundal placentas were approached transabdominally and posterior placentas transcervically. Multiple pregnancies were excluded. Successful results were obtained in 394 out of 400 cases. There were 5 failures in the first set of cases and 1 in the second (p < 0.05). In 14 cases (3.5%) fetuses with normal karyotypes were spontaneously aborted, 5 of these in the first period (4.7%) and 9 (3.1%) in the second. The spontaneous abortions in the second period followed transabdominal CVS in 4 cases out of 130 (3.1%) and the transcervical route in 5 cases out of 163 (3.105%). The average attempts per case in the first period was 1.44 (SD 0.66) while in the second it was 1.17 (SD 0.44, p < 0.0001) for the transcervical route and 1.06 (SD 0.2, p < 0.002) for the transabdominal route. In our experience choosing between transabdominal and transcervical CVS according to placental location is preferable to the sole use of transcervical CVS in terms of lower failure rate and fewer attempts per case. Proficiency in both techniques is mandatory for optimal results.

Abdomen↗

Candida sepsis following transcervical chorionic villi sampling.

BACKGROUND: The use of invasive devices and broad spectrum antibiotics has increased the rate of candidal superinfections. Candida sepsis associated with pregnancy is rare. Candida sepsis following chorionic villi sampling (CVS) has never been reported. CASE: A 31 -year-old pregnant woman presented with signs of sepsis one day after undergoing transcervical CVS. Blood culture and curettage material yielded C. albicans. She was treated with 400 mg of fluconazole daily for 4 weeks and completely recovered. CONCLUSION: Candida sepsis should be considered in the differential diagnosis of sepsis following CVS.

Adult↗

Somatic stability in chorionic villi samples and other Huntington fetal tissues.

We have studied different tissues from two affected fetuses with Huntington's disease (HD). In the first case the analysis was performed at 11 weeks of pregnancy; CAG repeats from seven different tissues were compared with the results obtained in the chorionic villi sample (CVS). We found 42 CAG repeats in all samples. In the second case the study was done at 12 weeks; eight tissues (including brain) were studied and compared with the CVS; in all of them, 44 CAG repeats were obtained. Our results show a somatic stability in the different analyzed tissues and suggest that mitotic instability can be a secondary consequence of neuronal degeneration and gliosis. Likewise, our data show great viability in the prenatal diagnosis (PD) of Huntington's disease using samples from any tissue.

Abortion, Therapeutic↗

[The natural occurring incidence of chromosome abnormalities in 330 chorionic villi samples in the first trimester of pregnancy].

The natural occurring incidence of chromosome abnormalities (ICA) and its clinical significance were investigated in 330 chorionic villi samples (CVS) from the first trimester of pregnancy. It was found that the ICACVS was 5.67 per cent (11/194) in the normal group and 11.77 per cent (16/136) in the risk group. The difference between two groups was highly significant (P less than 0.01). The result shows that the pregnant women with threatened abortion, history of spontaneous abortion and greater than or equal to 40 years old are the high-risk factors. Special attention should be paid to these cases in clinical genetic counselling and prenatal diagnosis.

Abortion, Threatened↗