Objective: A new method in prenatal diagnostics allows to demonstrate certain numeric chromosomal aneuploidies in amniotic cells within 24 h in contrast to conventional methods which take 1–3 weeks. Materials: The experience with this rapid fluorescence in situ hybridization (FISH) method is compared to standard karyotyping and its clinical relevance is described in a large clinical pilot study. FISH on uncultured amniocytes has been performed from 12 weeks of gestation to the third trimester using commercially available chromosome-specific DNA probes for chromosomes 13, 18, 21, X and Y. Results: FISH was performed successfully in 3,150 prenatal cases. All trisomies 13, 18 and 21 and all cases with gonosomal aberrations were detected by FISH analysis. Neither false-positive nor false-negative results were obtained using FISH. For all analyzable disorders the FISH results were in complete agreement with standard cytogenetics. Conclusions: In our experience, FISH is a valuable and reliable method for rapid diagnosis of numeric chromosomal aneuploidies.
We report our cytogenetic experience of 1554 early amniocenteses between weeks 11 and 14 of gestation, of which 44 per cent were performed prior to week 14. The mean culture time was 14.5 days. Karyotyping was successful in 99.7 per cent of cases. In 9.9 per cent of cases, there was pseudomosaicism with a high rate of loss of an X-chromosome and structural aberration of chromosome 1, which may be due to the Chang medium. The mosaic rate was 0.5 per cent. The overall aberration rate was 2.8 per cent. Our data confirm the reliability of early amniocentesis, which is a serious alternative to standard amniocentesis and chorionic villus sampling (CVS).
In the last 6 years early amniocentesis for the prenatal diagnosis of chromosome aberrations has been established in many centers worldwide, but knowledge about the gynecological safety of the procedure is sparse. From 1990 to 1995 at the Evangelisches Krankenhaus Oberhausen (Germany) 3,277 early amniocenteses (between weeks 11 and 14) and 1,808 standard amniocenteses were performed in low-risk indication groups (advanced maternal age and anxiety). A complete follow-up including reports of fetal outcome was obtained in 4,444 cases (87.5%). A pregnancy age-related abortion rate was determined with a slightly higher rate of abortions up to week 28 of gestation in early amniocentesis. The total abortion rate up to week 28 after the procedure for cases with complete follow-up was 2% in early amniocentesis. Compared to standard amniocentesis performed under the same clinical conditions with an abortion rate of 1.3%, there is no statistical difference between early and standard amniocentesis (p = 0.0971). Hip and foot dislocations (22 cases) and pulmonary distress syndromes (8 newborns) showed no significant correlation with the gestational week. Given the high normal background rate of spontaneous abortions in the early period of pregnancy without an invasive procedure, early amniocentesis can be considered as a safe alternative to chorionic villus sampling and standard amniocentesis.
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