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Instruments for transcervical chorionic villus sampling for prenatal diagnosis.

BACKGROUND: The type of instrument used in chorion villus sampling could have a significant impact on the success rate of the procedure. An ability to manoeuvre the instrument within the uterine cavity without puncturing the gestational sac, and to see the tip of the instrument on ultrasound scanning are particularly important. OBJECTIVES: The objective of this review was to assess the effects of different instruments for transcervical chorionic villus sampling on perinatal outcome, quality and quantity of obtained tissue, technical difficulties during the procedure and maternal adverse effects. SEARCH STRATEGY: The Cochrane Pregnancy and Childbirth Group trials register was searched. Date of last search: October 1998. SELECTION CRITERIA: Randomised trials comparing different instruments for transcervical chorionic villus sampling. DATA COLLECTION AND ANALYSIS: Eligibility and trial quality were assessed by one reviewer. MAIN RESULTS: Three trials involving 268 women were included. None of the trials mentioned method of randomisation. An adequate sample was more likely to be obtained using small forceps than aspiration cannula (odds ratio 7.29, 95% confidence interval 3. 39 to 15.67). However small forceps were more difficult to insert than an aspiration cannula (odds ratio 0.35, 95% confidence interval 0.13 to 0.96). Use of the Portex cannula was more likely to result in an inadequate sample and a difficult or painful procedure when compared with either the silver or aluminium cannula respectively. REVIEWER'S CONCLUSIONS: Although there is some evidence to support the use of small forceps for transcervical chorionic villus sampling, it is not strong enough to support change in practice for clinicians who have become familiar with aspiration cannulas.

Chorionic Villi Sampling↗

[Rapid prenatal diagnosis of Down's syndrome in the first trimester of pregnancy by fluorescence in situ hybridization].

OBJECTIVE: To assess whether fluorescence in situ hybridization (FISH) with chromosome 21, specific DNA probe is applicable as a prenatal diagnostic tool for Down's syndrome. METHOD: We used FISH with chromosome 21 specific probe on 30 uncultured chorionic villi cell samples to detect the Down's fetus, and we also performed the conventional chromosome analysis of chorion cells from parallel samples. RESULTS: In samples with disomic karyotype, an average of 1 percent (0-5 percent) of the nuclei had three hybridization signals. By contrast, in the samples of trisomy 21 fetus, an average of 86 percent (78-91 percent) of the nuclei displayed three signals. CONCLUSION: FISH can provide a rapid and accurate method for the first trimester prenatal diagnosis of Down's syndrome.

Chorionic Villi Sampling↗

Early prenatal investigation of a pregnancy at risk of adenosine deaminase deficiency using chorionic villi.

A pregnancy at risk for adenosine deaminase deficiency and severe combined immunodeficiency disease was investigated using samples of chorionic villi obtained during the eighth week of pregnancy. Adenosine deaminase levels suggested that the fetus was a probable carrier and that a diagnosis of severe combined immunodeficiency disease could be excluded. Enzyme and chromosome results were available within 24 hours of the chorionic villous sampling procedure, and were confirmed on amniotic fluid cell cultures after amniocentesis at 17 weeks' gestation and on cord blood at delivery.

Adenosine Deaminase↗

Cell surface antigen expression of first trimester chorionic villus samples.

First trimester chorionic villi obtained by chorionic villus sampling at approximately 9 weeks of gestation were investigated by indirect immunofluorescence to demonstrate trophoblast cell surface antigen expression. Villous trophoblast expressing the trophoblast specific markers transferrin receptor, human placental lactogen, and cytokeratin was also found to express a monomorphic major histocompatibility complex class I determinant recognized by the monoclonal antibody W6/32. W6/32 positive regions included sparsely scattered regions of villous trophoblast and fanning outgrowths of trophoblast. The class I antigenic determinant expressed by first trimester trophoblast was found to be recognized exclusively by W6/32 when assayed with a panel of anti-class I determinant monoclonal antibodies. Trophoblast W6/32 determinant expression was not increased after 24 hour organ culture in the presence of 200 U of interferon gamma. Exposure to interferon gamma resulted in increased class I antigen expression by mesenchyme and low level de novo mesenchyme class II antigen expression. These data suggest that early gestational stage villous trophoblast express non-classical class I antigens which do not seem to be subject to the regulatory effects of interferon gamma.

Antigens, Surface↗

Transabdominal fine needle biopsy from chorionic villi in the first trimester.

A technique for sampling first trimester chorionic villi for prenatal diagnosis by transabdominal fine needle biopsy is described. Specimens of chorionic villi were obtained from 49 out of 58 women, a success rate of 84.5 per cent. No fetal or maternal complications were demonstrated in the period before abortion. The procedure is useful for obtaining fetal tissue for culturing, DNA analysis and direct chromosome analysis.

Abdomen↗

The influence of needle and syringe size on chorionic villus sampling of term placentae: a randomised trial.

OBJECTIVE: To determine the effect of needle and syringe size on the amount of tissue obtained at chorionic villus sampling METHODS: Two needle sizes, 18 and 20 gauge, and two syringe sizes 5 mL and 20 mL, were used to assess samples from term post-partum placentae. Each of the four combinations was tested by 25 aspirations. The placentae were divided into 100 grid spaces and each grid space was randomly allocated to a needle/syringe combination. The resulting samples were cleaned to separate the chorionic villi (CV), centrifuged and then weighed. RESULTS: Significantly more tissue was obtained with an 18-g needle compared with a smaller 20-g needle (median weight difference 1.5 mg, 95% CI 0.8-2.3 mg). More tissue was also obtained with the larger 20-mL syringe though the impact of the syringe size was less than that of the needle size (median difference 0.8 mg, 95% CI 0-1.6). CONCLUSION: A larger syringe and needle size yields a larger quantity of chorionic villi from the post-partum term placenta.

Chorionic Villi Sampling↗

Fluorescence in situ hybridization of chorionic interphase cells for prenatal screening of Down syndrome.

OBJECTIVE: Our purpose was to determine the usefulness and reliability of fluorescence in situ hybridization on interphase chorionic villi cells in the prenatal diagnosis of Down syndrome. METHODS: A total of 336 samples of chorionic villi were analysed by direct chromosome preparation and FISH with a DNA probe specific to chromosome 21. The samples were obtained as part of the routine obstetric investigation and management. RESULTS: The sampling and direct karyotyping was successful in all cases. At least 50 cells were valuable by FISH in 331 of 336 samples. Both methods showed Down syndrome in 12 cases. The follow-up investigations showed that there was no false-negative or false-positive result following these procedures. CONCLUSION: Based on these results and the fact that it is possible to analyse by interphase FISH at least ten times more cells than by conventional cytogenetic methods, and these cells originate from different tissues of chorionic villi, it is concluded that FISH increases the reliability of the diagnosis. Nevertheless, more data are needed for correct statistical analysis. Since this method is cheaper and gives diagnosis earlier than cell culture, the combination of direct chromosome preparation and FISH on chorionic villi is offered for prenatal Down syndrome screening.

Chorionic Villi↗

[Medical aspects of diagnosis before implantation].

With the currently available techniques, it is not possible to perform cytogenetic and enzymatic analyses on 1 or 2 cells collected from a human embryo prior to its reimplantation. The recent techniques of polymerase chain reaction may allow DNA analyses in some cases: sexing or diagnosis of monogenic diseases. The reliability of these techniques and the absence of adverse effects due to embryo micromanipulation have to be demonstrated. The practical medical application of preimplantation diagnosis requires in vitro fertilization in a fertile couple and its low rate of success has to be compared to the reliability of the early prenatal diagnosis on chorionic villus samples.

Blastocyst↗

Cytogenetic study of spontaneous abortions by transabdominal villus sampling and direct analysis of villi.

We report our experience in a cytogenetic study of 93 spontaneous abortions. Specimens were obtained by transabdominal chorionic villus sampling (TACVS) in women requesting prenatal diagnosis by chorionic villus sampling (CVS) but in whom an arrested pregnancy had been diagnosed during the ultrasound examination. Our success rate, i.e. the percentage of cases where we obtained results, was 91. 4 per cent, and the rate of abnormalities-mostly aneuploidies and polyploidies-was 62.3 per cent. In normal cases, masculine:feminine ratio was 1:1. These results confirm those obtained by other groups earlier this decade and allow us to conclude that, for the cytogenetic study of spontaneous abortions, CVS is a better approach than the culture of the products of conception after evacuation, because the success rate is higher and because it provides certainty that the specimens obtained are of fetal origin.

Abortion, Spontaneous↗

Interpretation of chorionic villus sampling laboratory results is just as reliable as amniocentesis.

Karyotypes of chorionic villi have been said to be less accurate than karyotypes of amniocytes. Karyotypic differences between placental and fetal tissue and maternal-cell contamination could potentially complicate clinical management. We compared cytogenetic results obtained by chorionic villus sampling and amniotic fluid cells in our center during a 2-year period (1986-1987). Chorionic villus sampling material was processed for direct analysis and backed up when indicated (now routinely) with tissue cultures. The incidence of inconclusive results requiring additional studies was 1.2% for chorionic villus sampling and 0.75% for amniotic fluid cells. Mosaicism was the most common problem for both chorionic villus sampling and amniotic fluid cells. Failure of growth was more frequent in amniocentesis material (0.35 versus 0.09%), but polyploidy and atypical aneuploidies were greater with chorionic villus sampling. The accuracy of cytogenetic evaluation by chorionic villus sampling and amniotic fluid cells and the need for additional invasive procedures appear to be equal in our laboratory.

Amniocentesis↗

[Rapid detection of numerical aberrations of chromosomes in the first trimester of pregnancy by using fluorescence in situ hybridization (FISH)].

Fluorescence in situ hybridization (FISH) has been applied for rapid prenatal diagnosis of common numerical aberrations of chromosomes. We used FISH with chromosome 13, 18 and 21 specific probes on 528 uncultured mesenchymal chorionic villi cell samples to detect the chromosomal abnormalities, and we also performed the conventional chromosome analysis of cultured cells from parallel samples. The results showed, in samples disomic with respect to the probed chromosomes, and average of 1 percent (range 0-18 percent) had three hybridization signals. By contrast, in the samples trisomic or triploidic for the probed chromosomes, an average of 70 percent (52-84 percent) (chromosome 13), 73 percent (68-84 percent) (chromosome 18), and 76 percent (54-90 percent) (chromosome 21, including one case of mosaic trisomy 21) of the nuclei displayed three signals. The whole test took about 24 hours. We concluded that FISH can provide a rapid and accurate method for the first trimester prenatal idetification of selected numerical aberrations of chromosomes.

Chorionic Villi Sampling↗