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PubMedDate not supplied

Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi sampling.

We studied a family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex. A activity in leucocytes. Two prenatal diagnoses of affected fetuses were made in this family. The first one on amniotic cells, the second one on trophoblast biopsy samples. Both of them were confirmed after abortion on cultured cells. Prenatal diagnosis of TSD, even of some atypical forms is possible using trophoblast biopsy, but formal confirmation should be obtained on cultured trophoblasts.

Abortion, Induced↗
PubMed1985

Monitoring of pregnancies at risk for Fanconi's anemia by chorionic villi sampling.

Two pregnancies at risk for Fanconi's anemia have been monitored by a cytogenetic method in the first trimester of gestation. The rate of chromosome breakage was evaluated in spontaneous mitoses from a direct preparation of trophoblasts in one case and from mitoses obtained from standard cultures and from mitoses treated with diepoxybutane in both cases. Cytogenetic studies were carried out also at 16 weeks from amniotic fluid cells in one case, and in fibroblasts sampled from the aborted fetus in the other. In all the experimental conditions the mean frequency of breaks/cell was in the range of controls, suggesting that the fetuses were unaffected by Fanconi's anemia. In one case the results have been confirmed by chromosome analysis at birth.

Adult↗
PubMed1987

Chorionic villi sampling with an echogenic catheter: experiences of the first 500 cases.

Using a newly developed CVS catheter with enhanced echogenicity we performed CVS in 501 consecutive cases. The abortion rate of 4.3% prior to 28 weeks of gestation in this series is within the background rate of controls matched for maternal age. The loss rate was clearly correlated to the number of insertions, time of sampling and sampling success. CVS is safest between 9 and 11 weeks of pregnancy. We recommend to restrict the number of insertions to a maximum of 3. The rate of failed samplings was 4, reflecting a low "aggressiveness in seeking a sample". Complete follow-up of 259 consecutive cases gave no indication of an increased rate of congenital anomalies following CVS in early pregnancy. In our study we also performed cervical swabs, pregnancy hormone testing, maternal serum AFP determination prior to and after CVS as well as maternal AFP screening at 16 weeks of pregnancy together with a detailed sonographic examination. We conclude that CVS can be considered now a safe and reliable diagnostic procedure, but requires further detailed documentation and close follow-up in controlled trials.

Abortion, Spontaneous↗
PubMed1985

Direct-vision sampling of chorionic villi during extra-amniotic instillation of physiologic saline solution: effect on intrauterine pressure and fetal heart activity.

After 150 ml of physiologic saline solution had been infused into the extra-amniotic space before first-trimester vacuum aspiration abortion, intrauterine pressure ranged between 16 and 23 mm Hg, thus not more than during Braxton Hicks contractions. At chorionic villi sampling during continuous saline solution infusion, fetal heart activity (beats per 15 seconds) decreased temporarily from about 36 to about 33.

Amnion↗
PubMedDate not supplied

[Sampling of the chorionic villi: transcervical fine-needle and endoscopic aspiration].

In 63 cases chorionic villi sampling has been performed under complete anesthesia just before legal abortion; nine of them were endoscopic transcervical and 54 transcervical by means of a catheter under direct ultrasonic control. 81% offered useful chorionic villi, 17.4% only decidual material. The last 21 aspirations by means of a catheter between the 8th and the 12th week of gestation (p.m.) caused no problem at all. From the first punction on useful chorionic material has been obtained.

Abortion, Legal↗
PubMed1991

[Prenatal cytogenetic diagnosis using chromosomal preparations of the native biopsy samples of chorionic villi, cultured chorionic cells and amniocytes].

Analysis of the results of prenatal cytogenetic diagnosis carried out in the first and second pregnancy trimesters in more than 300 women permitted comparing the efficacies of two methodologic approaches, diagnostic amniocentesis and chorion sampling , with due consideration for the methodologic errors typical of these methods and of the tested biologic material. Up to 5% of the diagnoses are erroneous if the diagnosis is based on chorion sampling data, whereas in amniocentesis the share of diagnostic errors is lower by an order. The authors have given a theoretical rationale for and tried a methodologic approach, involving the employment of the 'direct' chromosomal preparations from villous chorion biopsy specimens and the so-called 'maintained' cell culture technique, that permits obtaining chromosomal preparations of higher quality and, consequently, helps improve the accuracy of chromosomal diagnosis.

Adult↗
PubMed1993

Prenatal quantitation of number of X-chromosomes by slot blot hybridization and autoradiography.

OBJECTIVE: To study the use of slot blot hybridization as a method of prenatal quantification of the number of X-chromosomes in chorionic villi samples. METHOD: DNA of chorionic villi from fetuses with karyotypes of 46,XY; 45,XO; 47,XXX; 69,XXX and 48,XXXX were extracted, slot blotted and hybridized to the following radioactive probes: beta 0.9, FVIII, pY3.4 and pBLUR. DNA of chorionic villi from five other fetuses with unknown karyotypes were similarly blotted and hybridized. Autoradiography with pre-exposed films was carried out and the density of each of the hybridized bands was scanned by a laser densitometer. RESULTS: It was found that with increasing amounts of DNA in the samples, the intensity of the bands hybridized with FVIII and beta 0.9 probes increased proportionately. However, the intensity of the bands obtained with the probes pY3.4 and pBLUR (probes containing multiple repeat sequences) varied little with increasing DNA concentrations. The ratios of radioactivity obtained for the two probes FVIII/beta 0.9, were well correlated with the number of X-chromosomes in the samples. Calculations of the FVIII/beta 0.9 ratio for the five samples with the unknown karyotypes gave a correct prediction of the number of X-chromosomes in each case. CONCLUSION: Slot blot hybridization can be used as a method of prenatal quantitation of the number of X-chromosomes in chorionic villi samples. The method could be useful for rapid prenatal diagnosis of other numerical chromosomal abnormalities.

Adult↗