Technical aspects and diagnostic problems of direct chromosome analysis using chorionic villus sampling in the first trimester

Abstract

This paper describes 18 months' experience of direct chromosome analysis applied to villi aspirated during the first trimester, using a catheter inserted trans-cervically. A total of 325 biopsy samples were analysed, and there was a diagnostic failure in 6 of these cases (1.8%). An abnormal karyotype was detected in 12 cases (3.8%); three of them were chromosome mosaics not confirmed on amniotic fluid cultures drawn between the 16th and 18th week of gestation. Cytogenetic control was performed on fetal tissues after voluntary abortion. There was a karyotype discrepancy between the placenta and the fetus in two cases out of the 12 mentioned above.