[A cytogenetic study of the human chorion for the purpose of the prenatal diagnosis of hereditary diseases]

Cytogenetical investigation of 50 diagnostic chorionic villus samples from women with a high risk of giving birth to babies with chromosomal and genic pathology, and of 128 chorionic samples obtained from medical abortions, both on the 8-12th weeks of gestation was performed by means of original direct chromosomal analysis. Chromosomal anomalies were found in 6 cases of diagnostic chorion biopsies (12%) and in 4 cases (3%) of medical abortions. The former group included 5 embryos with autosomal trisomy (4--Ts21 and 1--Ts13) and one embryo with monosomy 18. The latter group contained 2 embryos with X-chromosome monosomy and 2 other with chromosomal mosaicism. A significant prevalence of the female sex was found in the diagnostic group (sex ratio 0.56), but not in the medical abortion one (sex ratio 1.0). Analysis of routine chromosomal preparations and those after in situ hybridization with X-chromosome alfoid-probe YAP 1-10 revealed polyploidy in average in 0.8-1% chorion cells. The feasible causes of sex ratio distortion in embryos of diagnostic group and factors responsible for the rate of polyploidy are discussed. High reliability of originally elaborated direct "shaking-blotting" method of chromosomal preparations from chorionic villus samples is stressed.