Chromosome analysis in chorionic villi samples from the first trimester elective terminations.

Chorionic villi sampling (CVS) has become a first trimester alternative to amniocentesis for prenatal diagnosis. The cytogenetic findings in 150 experimental samples are presented. The ages of the mothers ranged from 12 to 35 years, but the majority of them were 18 and 19 years of age. Various parameters of culturing and processing the samples in order to improve the method, were investigated. Short term incubation for 48 h was the method routinely employed in processing the biopsies for cytogenetic analysis. In the first series of 100 cases one mosaic case (46,XX/45,X), one Robertsonian translocation (13;14), one marker chromosome and one fragment were found. The foetal tissues were not analysed for chromosomes. In the second series of 50 samples, one case of mosaicism was found in the chorionic villi (46,XX/47,XX, 18q-), but this abnormality was absent in the foetal tissue. One variant inv(9) was observed in the foetal tissue as well as in the chorionic villi. In all other cases the karyotypes from the chorionic villi samples matched those of the corresponding foetal samples. There was no maternal contamination in this series of 50 samples. The discrepancies in the cytogenetic results from other investigators are discussed.