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[Cytogenetic analysis of chorionic biopsy samples in prenatal diagnosis of chromosome abnormalities]
Abstract:
Using original direct methods of shaking-imprinting and rapid sampling of metaphase and prometaphase chromosomes, a cytogenetic analysis has been performed in 80 diagnostic chorionic villus samples (CVS) in the first trimester. Chromosomal disorders were identified in 6 (7.5%) fetuses: Down's syndrome in 4, monosomy 18 in 1, and a short-arm deletion of chromosome 18 in 1. These pregnancies were terminated. The paper offers opportunities for reducing risks of transcervical CVS and widely applying first-trimester chromosomal analysis in a program of mass screening for chromosomal and genetic diseases.