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Results for “Chorionic Villi Sampling”

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At least 73 records · Page 4Linked to original sources
PubMed1998

Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples.

Pyruvate carboxylase (PC) deficiency is a rare metabolic disorder in infants and children, most frequently with fatal outcome. Its prenatal diagnosis by radiometric assay in cultured amniocytes has previously been reported. We present and discuss the prenatal diagnosis of PC deficiency by direct measurement of PC activity in chorionic villi, in two subsequent pregnancies in a family who previously lost a child affected by PC deficiency. In the next pregnancy PC was unmeasurably low in chorionic villi whereas in control samples its activity was between 0.8 and 3.3 nmol min-1 mg protein-1. Following elective termination of the pregnancy PC was shown to be totally inactive in post-mortem fetal liver. In the most recent pregnancy of the proband's mother PC was normally active in the chorionic villi. The product of this pregnancy was a normal boy.

Chorionic Villi↗
PubMed1990

[Prenatal diagnosis using amniocentesis and chorionic villi sampling: comparative study of chromosomal findings].

The authors report the results of chromosomal analyses performed on 6235 amniocenteses and 559 choriocenteses. Whereas the frequencies of chromosomal anomalies observed respectively on amniocenteses and choriocenteses did not differ significantly, the comparison of the types of aberrations found revealed, in chorion villi, a relatively high proportion of lethal anomalies, never encountered in amniocyte cultures. Furthermore, chromosomal mosaicism was observed 10 times more frequently on chorion villi than on amniotic cells. These results are globally comparable to those reported in other surveys. In view of literature reports of discordances between fetal chorionic karyotypes, never found in amniocenteses, rapid karyotyping from chorion villi is not as reliable as from amniotic cells. Taking into account the risk of cytogenetic discordance specific to choriocentesis, it is recommended that this method be strictly limited to pregnancies with high genetic risk.

Amniocentesis↗
PubMed1989

[Sex determination of the embryo by DNA studies of chorionic villi samples].

The first step in the prenatal diagnosis of X-linked genetic disorders is the determination of the sex of the fetus. A new method for this purpose is based on recombinant DNA technology. The authors give a short account on their experiences with a Y specific DNA probe. Fetal DNA was prepared from chorionic villi taken at the 8th-12th weeks of gestation. The DNA was hybridised with the Y specific probe. This probe was isolated from the 3,4 kilobase human repeat sequence derived from heterochromatin of the Y chromosome and had 1000 times more affinity for male DNA than for female DNA. The method based on hybridisation with the Y specific probe should facilitate first-trimester prenatal sex determination of X-linked genetic disorders.

Abortion, Legal↗
PubMed1989

Chorionic villi sampling for early prenatal diagnosis: an option for the Jewish orthodox community.

The Jewish religion permits abortion up to 40 days after conception. To accommodate the Jewish orthodox community, prenatal diagnosis in the eighth gestational week may be a feasible goal with clear benefits. We present our experience with chorionic villus sampling (CVS), wherein out of 144 patients requesting CVS, 125 were found to be suitable for the procedure. Excluding patients with fundal placenta and cervical or uterine myoma, chorionic sampling was successfully performed on 102 out of 106 patients (96.2%) and a chromosome result was available for 98 of those patients (96%). Fetal losses, within 14 days following procedure, were 2 out of 125 (1.6%). No complications were encountered following the procedure. The cytogenetic analysis was improved by culturing CVS fragments for 48 h, after which clearer banding patterns could be observed. One of the CVS preparations, from a 7.2/7-week-old embryo was successfully examined. Short-term (6 days) cultures were used as an additional method for chromosome analysis, to extend and confirm results obtained by the direct method.

Abortion, Spontaneous↗
PubMed1992

[Chorionic villi sampling and prenatal diagnosis].

The authors report their experience of 790 villous specimens taken either early (for 430 cases) or late (360 cases) between 10 and 37 weeks of amenorrhea (WA) using a transabdominal syringe. In the early choriocentesis cases, they conclude that use of the transabdominal route after 12.5 WA, regardless of the position of the chorion, makes it possible significantly to reduce the rate of fetal loss which becomes similar to that for amniocentesis. Placentocentesis has been used at later stages, either for high-risk couples as an alternative to amniocentesis (183 cases), or in cases of ultrasound abnormalities (177 cases) as an alternative to amniocentesis or cordocentesis. Placentocentesis makes it possible to obtain the fetal karyotype very rapidly within 1 to 2 days.

Abortion, Spontaneous↗
PubMed1994

Chorionic villi sampling: laboratory experience with 4,000 consecutive cases.

Experience with 4,000 consecutive CVS cases shows that 1) the combination of both the direct and culture methods greatly reduces false diagnoses and maternal cell contamination; 2) the time interval between the sampling procedure and processing of villus specimens influences the quality of direct preparations; 3) maternal cell contamination (MCC) can be minimized with dissection of CVS specimens. We have compiled a large volume of confined placental mosaicism (CPM) cases to serve as a resource in interpreting mosaic cytogenetic findings. It was noted that, in up to 92% of the mosaic cases, the abnormal cell line was confined to the placenta. The frequency of true chromosomal mosaicism was 0.2%, and is not different from that for amniocentesis.

Cells, Cultured↗
PubMed1993

[Early intra-amniotic bleeding and its results: dangers of chorionic villi sampling and early amniocentesis].

Four human fetuses are described exhibiting malformations related to EIAB. Two of these fetuses were aborted as a result of early prenatal diagnostic procedures: one after transcervical CVS, one after early amniocentesis. In three of these fetuses intraamniotic bleeding originating from the umbilical vein near the umbilical insertion produced cords of clotted blood and blood clots adhering to the surface of the fetus. Subsequently, the clots were organized by invading mesenchymal fibroblasts from fetal skin. The cords bent around extremities produced amputations (TLD) and constricted the umbilical vessels, if bent around the umbilical cord. The organizing surface blood clots located predominantly in the folds of the embryo, or fetus, influenced the growth of underlying tissues, producing oblique facial clefts, microphthalmia or micrognathia. EIAB represents a serious complication of invasive procedures related to prenatal diagnosis and must be regarded as the cause of malformations, such as TLD, or ADAM sequence. To avoid EIAB, CVS and amniocentesis should not be done before the end of the 11th gestational week.

Amniocentesis↗
PubMed1990

[Amniocentesis versus choriocentesis (chorionic villi sampling) and cordocentesis (fetal blood sampling)].

Opinions are still divergent regarding the respective place of amniocentesis and choriocentesis in the scheduled prenatal diagnosis. Amniocentesis (PLA) is the oldest method. This technique is perfectly mastered as well as its results, complications; its follow-up is 17-18 years in the world and over 16 years in Lyon. The rate of technical failures is inferior to 0.5 p. cent under ultrasonographic control. Its results are quite reliable (one error in 4 to 5,000 amniocentesis for the karyotype). The culture failures are under 1 p. cent. The titration of tracers, such as alpha-feto-protein or acetyl-cholinesterase is possible, favoring PLA over choriocentesis when there is a risk of neural dysraphias. PLA may be performed at any time during the pregnancy. Its main drawback seems to be its lateness: currently, the ideal time is 15-16 weeks. PLA performed earlier may result in more technical and culture failures. When performed at 12-13 weeks, it enters in competition with the choriocentesis although its theoretical risk of abortion is lower. Therefore, PLA and choriocentesis may be competitors, according to the risk factors and the indications, especially regarding cytogenetics.

Amniocentesis↗