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Cytogenetic analysis of chorionic biopsy samples in prenatal diagnosis of chromosome abnormalities

Baranov, V.S.; Lebedev, V.M.; Mikhaĭlova, E.P.; Shved, N.V.; Gavrilenko, T.V.

Akusherstvo i Ginekologiia 5: 35-37

1990

ISSN/ISBN: 0300-9092
PMID: 2144409
Document Number: 347836
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.

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