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PubMed2000

Accuracy of abnormal karyotypes after the analysis of both short- and long-term culture of chorionic villi.

We report in detail the cytogenetic results of 1838 consecutive chorionic villus samples with the availability of both short-term culture (STC-villi) and long-term culture (LTC-villi) preparations in 1561 cases (84.9%). A high degree of laboratory success (99.5%) and diagnostic accuracy (99.8%) was observed; in four cases of low mosaicism, all four associated with the final birth of a normal child, a small risk of uncertainty was accepted. The combined analysis of STC- and LTC-villi reduced follow-up amniocenteses by one-third in comparison with the analysis of STC-villi alone. We believe that the desired level of quality and accuracy of prenatal cytogenetics in chorionic villi can only be achieved when both STC- and LTC-villi are available. We conclude that CVS might then be the mode of prenatal diagnosis of first choice in pregnancies with a high (cytogenetic) risk.

Amniocentesis↗
PubMed1990

[Chorionic villi sampling. Amniocentesis. Cordocentesis].

For early antenatal diagnosis, chorionic villus sampling (CVS) represents a valid alternative to early amniocentesis. It gives rapid results with minimal increase in risks (miscarriage about 1.5 p. cent). The indications of CVS are therefore likely to broaden. For late antenatal diagnosis, linked to an echographic or clinical anomaly, sampling of fetal blood by funicular puncture is taking precedence over sampling of amniotic fluid. Results can be obtained easily and much more quickly at low risk (about 1 p. cent). These techniques are in no way alternatives, but rather complement one another. It is always advisable to choose with care the technique that offers the greatest information with maximum safety.

Amniocentesis↗
PubMed1985

[Early biopsy of chorionic villi. Personal experience and review of the literature].

Chorionic villus biopsies made during the first trimester of pregnancy offer the advantage of earlier antenatal diagnoses than usual methods. This technic was introduced about 15 years ago but recently improved thanks to innovations in equipment and the contribution of echography. 75 biopsies were made using aspiration technic by echographic-guided catheter. These biopsies were carried out before elective abortion, 18 in an ambulatory setting one to three weeks before the abortion in order to test the social acceptability and tolerance of this method, as well as the inherent risks involved. The biopsy technic is described as well as preliminary results of chromosomic analyses of biopsied chorionic tissues. Drawing from a perspicacious review of the literature, the respective advantages of various biopsy technics and their uses (i.e. sex determination and chromosome analyses by culture and especially direct methods, study of fetal DNA, and enzyme assay) are examined. Finally, the risks of biopsy technic in the immediate and near future are discussed, and the indications today for this new technic are described.

Abortion, Therapeutic↗
PubMed1989

[Study on common fragile sites in chorionic villi cells cultured in vitro].

The chorionic cells cultured in vitro were treated with the inducing factors of fragile sites. These factors could lead to an unbalance of the dNTP pools and thus induce expression of both common fragile sites and Fra(X). Excess guanosine (250 mg/l) or thymidine (250 mg/l) was added to the culture medium 24 hours before harvest. MEM-FA medium was added 48 hrs before harvest and some of these cases were added with guanosine (250 mg/l) 24 hrs before harvest. After harvest the slides were stained with Giemsa staining. Chromosome gaps and breaks were observed and recorded. Then slides were destained and G-banded to confirm the chromosome region of breaks. The expression frequencies of the common fragile site 3p14 and others in villi cells were observed. Both guanosine and thymidine had strong inducing effect on common fragile sites. Guanosine inhibited the cell growth more apparently than thymidine. After guanosine being used in MEM-FA medium, the weaker inducing effect was shown. The possible reason is that the lack of folic acid could block the synthesis of guanosine, so the unbalance of dNTP pools caused by excess guanosine tend to be balanced. Because of the counteracting effect between MEM-FA medium and guanosine or thymidine, it is suggested that these two nucleosides should not be used with MEM-FA medium together in inducing Fra(X).

Cell Division↗
PubMed1991

[Experience with chorionic villi sampling].

The authors discuss their experiences from 412 chorion villus samplings, (CVS), which they have done under four and a half years since 1985. They used eight types of instruments in performing their examinations and each instrument proved to be satisfactory in the gaining of chorion villus samples, suitable for further tests. They also discuss the bacteria found most frequently in the vagina on the basis of the examination and culturing of both vaginal and cervical fluid done prior to 151 CVS examinations and the effective method with which ascending infection can be prevented. They discuss a distributional pattern of their results based on the different indications for the CVS examinations, and the outcome of each of the pregnancies after CVS. In 377 cases they did direct karyotyping, in 30 cases DNA examination and in five cases enzyme determination also occurred.

Bacterial Infections↗
PubMed1988

Activity of arylsulfatase A, B-glucosidase and hexosaminidases in chorionic villi at six, eight and ten weeks' gestational age.

Chorionic villus sampling is becoming an accepted method of prenatally diagnosing metabolic diseases. There are few published data on sampling at various gestational ages. Different investigators, using different methods of chorionic biopsy, perform the sampling at various gestational ages. Accurate interpretation of results is dependent on reliable normal values, which could differ on the basis of gestational age. The enzymatic activities of arylsulfatase A, B-glucosidase and hexosaminidases were compared in trophoblast from six-, eight- and ten-week gestations. No significant differences in activity levels were detected. This finding confirms the accuracy of metabolic diagnosis for these enzyme-deficiency syndromes in trophoblastic tissue at gestational ages of six to ten weeks without a requirement for gestational-age-specific normal values.

Cerebroside-Sulfatase↗
PubMed1986

The arylsulphatases of chorionic villi: potential problems in the first-trimester diagnosis of metachromatic leucodystrophy and Maroteaux-Lamy disease.

Three pregnancies at risk for late infantile metachromatic leucodystrophy have been monitored using chorionic villus biopsies. In the first of these a false negative diagnosis was made following assay of arylsulphatase A in villi. Subsequent studies have shown that this error was probably due to interference from another sulphatase in the villi, although the possibility that maternal contamination was also partly responsible could not be excluded. For reliable prenatal diagnosis of metachromatic leucodystrophy using chorionic villi it is advisable that studies with the nitrocatechol substrate are carried out on fractionated homogenates, or that the natural substrate is used. Problems may also occur when chorionic villi are used for assay of arylsulphatase B for first trimester diagnosis of Maroteaux-Lamy disease.

Arylsulfatases↗
PubMed1986

An evaluation of maternal cell contamination in cultures of chorionic villi for the prenatal diagnosis of chromosome abnormalities.

Culture of chorionic villus cells provides a method of obtaining chromosomes of excellent quality for first trimester prenatal diagnosis. Concern exists that maternal cells present in the biopsy may contaminate the culture and lead to misdiagnosis. This study has confirmed that karyotypes obtained from female villus cultures were non-maternal by establishing the presence of paternal markers using Q- and C-banding. Male cultures were harvested serially to investigate the possibility of maternal cell overgrowth. Of 82 successful cultures investigated, 37 were male and 45 female and of the males 4 contained a mixture of male and female cells. Thorough dissection of the material is essential if maternal cell contamination is to be mininimised. The use of heteromorphic chromosome markers to establish that fetal cells have grown provides valuable reassurance.

Cells, Cultured↗