Chorionic villus sampling: cytogenetic experience in preliminary investigations and in 50 diagnostic cases

The results of preliminary cytogenetic investigations of chorionic villus sampling (CVS) and its diagnostic application in 50 cases are reported. Preliminary investigations included the effect of short delays between biopsy and processing, levels of mitotic activity related to variations in processing, the incidence of tetraploidy, correlation of the karyotype of the chorionic villi with that of the fetus, and the results of banding studies. A protocol was then designed for application to diagnostic CVS. The 50 diagnostic cases included 4 with male karyotypes which were terminated due to a family history of an X-linked disorder, 1 trisomy 21, 1 trisomy 18, the finding of 1 aberrant cell out of 50 in an otherwise normal analysis, a 45, XY, t (13;21) karyotype, 2 fragile X negative karyotypes and in one case the presence of mosaicism was detected in chorionic villi and subsequently not confirmed at amniocentesis. The karyotype on the chorionic villi was 46XY/47XY +3.