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[绒毛取样样本的细胞遗传学分析在染色体异常产前诊断中的应用]

[Cytogenetic analysis of chorionic biopsy samples in prenatal diagnosis of chromosome abnormalities].

作者信息

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

出版信息

Akush Ginekol (Mosk). 1990 May(5):35-7.

PMID:2144409
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.

摘要

采用原始的直接摇印法以及中期和早中期染色体快速取样法,对孕早期的80份诊断性绒毛取样(CVS)进行了细胞遗传学分析。在6例(7.5%)胎儿中发现了染色体异常:4例为唐氏综合征,1例为18号染色体单体,1例为18号染色体短臂缺失。这些妊娠均已终止。本文为降低经宫颈绒毛取样的风险以及在染色体和遗传疾病大规模筛查项目中广泛应用孕早期染色体分析提供了机会。

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