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570例孕早期绒毛取样的细胞遗传学分析:技术与结果

Cytogenetic analysis of 570 first trimester chorionic villi samplings: technique and results.

作者信息

Jotterand-Bellomo M, Pescia G, Nguyen The H, Gaide A C, Thonney F, Marguerat P, Pacaud F, Munier F

机构信息

Division autonome de génétique médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Chuv, Switzerland.

出版信息

Ann Genet. 1988;31(1):14-20.

PMID:3258491
Abstract

In this report we present our experience based on 570 chorionic villi samplings performed by the transcervical method at 8 to 12 weeks gestation. Cytogenetic results were obtained for 551 samples, hence a failure rate of 3.33%. The previously described technique was modified by prolonging the incubation period to 48 hours. The total number of abnormalities was 26, which represents 4.71% of our sample. Of 24 chromosomal abnormalities, 21 were unbalanced and 3 were balanced of parental origin. Five discordant cases are thoroughly discussed.

摘要

在本报告中,我们介绍了基于妊娠8至12周经宫颈法进行的570例绒毛取样的经验。551份样本获得了细胞遗传学结果,因此失败率为3.33%。通过将孵育期延长至48小时对先前描述的技术进行了改进。异常总数为26例,占我们样本的4.71%。在24例染色体异常中,21例为不平衡型,3例为亲代来源的平衡型。对5例不一致的病例进行了全面讨论。

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