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PubMed1984

Karyotyping from uncultured human trophoblast in the first trimester of pregnancy.

Chorionic villi were sampled by transcervical aspiration after ultrasonic localization of the chorion frondosum. Sampling was successful in 82 of 98 women. Subsequent karyotyping of the chorionic material was done by the modified Evans method. Mitoses of reasonable quality were obtained providing an easy cytogenetic diagnosis from human cytotrophoblast. A second trimester chorionic plate biopsy and direct karyotyping in case of severe oligohydramnios and malformed fetus revealing numerical (45, XO) chromosomal abnormality is also reported.

Chorionic Villi↗
PubMed1992

[Phenylalanine hydroxylase-like antibody in human chorionic villi].

An antigen similar by electrophoretic mobility to liver phenylalanine hydroxylase (PH) and cross-reacting with monoclonal antibody PH8 against liver PH was detected in extracts of soluble proteins in 6 from 23 samples of chorionic villi. An antigen with electrophoretic mobility corresponding to 40-41 kDa was detected in extracts of membrane proteins from these 23 samples by immunoblotting with monoclonal antibody PH8. Its molecular weight was similar to that of major chymotryptic peptide of human liver PH. The content of the antigen varied with samples and was less than 20 ng/mg of the extracted protein. Two-dimensional gel electrophoresis revealed only 1 spot of the antigen. The antigen did not react with monoclonal antibodies PH7 and PH9 epitopes of which were located in N-terminal fragment of liver PH. These data suggest that the antigen of membrane fraction could be a PH protein without N-terminal domain.

Antibodies↗
PubMed1987

Maternal cell contamination in cultured chorionic villi: comparison of chromosome Q-polymorphisms derived from villi, fetal skin, and maternal lymphocytes.

Maternal cell contamination of chorionic villi (CV) samples used for first trimester prenatal diagnosis can cause obvious and/or unrecognized diagnostic dilemmas. The purpose of this investigation is to assess the frequency of maternal cell contamination (MCC) in chorionic villus samples and to evaluate selected parameters which might predict where contamination is more likely to have occurred. Maternal lymphocytes, chorionic villi from ultrasonically directed transcervical catheter aspiration, and fetal tissue were obtained at 8-11 weeks gestation from 45 patients undergoing elective termination. Quinacrine (Q) banded metaphases were compared from duplicate direct preparations of chorionic villi; cultured chorionic villi, fetal fibroblast tissue cultures, and maternal lymphocyte cultures. Q-polymorphisms in metaphase chromosomes were 100 per cent concordant between fetal tissue and direct CV preparation. However, evidence for maternal cell contamination occurred in 13.1 per cent of cultured chorionic villi preparations where polymorphisms were found to be identical between maternal and cultured CV and both distinct from fetal tissue preparations. Where MCC was identified, it was noted that CV cell cultivation interval was prolonged (24.2 +/- 6.8 days) compared with non-contaminated cultures (14.1 +/- 4.4 days) (p less than 0.05). We conclude that maternal cell contamination is a significant problem with chorionic villus sampling. Where direct preparations are not employed or when cultures are 'slow growing', MCC may be a significant and unrecognized complication re: fetal diagnosis. Direct preparations, multiple cultures, quinacrine banding, and maternal Q-polymorphism comparisons can minimize diagnostic dilemmas secondary to maternal cell contamination.(ABSTRACT TRUNCATED AT 250 WORDS)

Cells, Cultured↗
PubMed1988

Ultrastructure of first trimester chorionic villi with regard to the prenatal diagnosis of genodermatoses.

Hopes are held out for chorion villus sampling, a technique which is gaining more and more importance for the first trimester prenatal diagnosis of chromosomal aberrations and metabolic abnormalities. A variety of inherited skin diseases can be diagnosed postnatally and prenatally (in the second trimester) by ultrastructural diagnostic markers. For evaluation of prenatal diagnosis in the first trimester, we investigated chorionic villi derived from the trophoblast layer of the early pregnancy by light microscopy and conventional electron microscopy. The ultrastructure of the cellular layers covering the villi, i.e., the inner cytotrophoblast and the outer syncytiotrophoblast, as well as that of the connective tissue of the inner extraembryonic mesoderm, are thoroughly described in relation to the ultrastructural changes in certain genodermatoses including epidermolyses and keratinization disorders. We found that chorionic villi have only a few of the characteristics differentiated in skin, and none of the structures which are relevant to the diagnosis of genodermatoses. In our view, the ultrastructural approach is not suitable for first trimester prenatal diagnosis of genodermatoses in chorionic villi.

Chorionic Villi↗
PubMed1993

Genetic amniocentesis and chorionic villus sampling.

With the expanding list of prenatally detectable disorders, increasing numbers of patients are presented with the option of invasive prenatal diagnosis. Care providers need to address questions regarding the safety and accuracy of these procedures, as well as the indication. This article reviews these issues for genetic amniocentesis and chorionic villus sampling.

Amniocentesis↗
PubMed1988

[Biopsy of the chorionic villi in the early diagnosis of chromosomal diseases].

In the first trimester of pregnancy two simple chorionic villus sampling method, carried out under ultrasound guidance, with transabdominal or transcervical aspiration, was evaluated in 257 cases at risk for chromosomic diseases. The high efficacy of the transabdominal aspiration was demonstrated by obtain villus tissue for karyotyping in all but one case. In only one sample the abnormalities detected were not confirmed (one case of false positive).

Chorionic Villi Sampling↗
PubMed1989

Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.

Although type IV glycogen storage disease (Andersen disease; McKusick 23250) is considered to be a rare, autosomally recessive disorder, of the more than 600 patients with glycogenosis identified in our laboratory by enzymatic assays, 6% have been shown to be deficient in the glycogen branching enzyme. Most of the 38 patients with type IV glycogen storage disease who are known to us have succumbed at a very early age, with the exception of one male teenager, an apparently healthy 7-year-old male, and several 5-year-old patients. Fourteen pregnancies at risk for branching enzyme deficiency have been monitored using cultured amniotic fluid cells, and four additional pregnancies have been screened using cultured chorionic villi. Essentially no branching enzyme activity was detectable in eight samples (amniocytes); activities within the control range were found in five samples (three amniocyte and two chorionic villi samples); and five samples appeared to have been derived from carriers. In two of the cases lacking branching enzyme activity, in which the pregnancies were terminated and fibroblasts were successfully cultured from the aborted fetuses, no branching enzyme activity was found. Another fetus, which was predicted by antenatal assay to be affected, was carried to term. Skin fibroblasts from this baby were deficient in branching enzyme. Pregnancies at risk for glycogen storage disease due to the deficiency of branching enzyme can be successfully monitored using either cultured chorionic villi or amniocytes.

1,4-alpha-Glucan Branching Enzyme↗