50例孕早期绒毛取样胎儿诊断的临床经验。

Clinical experience with 50 cases of first-trimester fetal diagnosis by chorionic biopsy.

作者信息

Anderson J C, Trent R J, Smith A, Boogert A, Den Dulk G, Fisk N, Warr R G, Shearman R P

出版信息

Med J Aust. 1986 Jan 20;144(2):61-4. doi: 10.5694/j.1326-5377.1986.tb113659.x.

DOI:10.5694/j.1326-5377.1986.tb113659.x

Abstract

Prenatal diagnosis by chorionic biopsy was undertaken between the eighth and 12th weeks of pregnancy in 50 patients at risk of chromosomal or genetic abnormalities. Samples from 45 patients were karyotyped. A DNA analysis for the detection of homozygous beta-thalassaemia was undertaken in five patients. The sample from one patient at risk of haemophilia in the fetus was subjected to DNA analysis after a male fetus was confirmed on karyotyping. Abnormal karyotypes were detected in four fetuses while three had homozygous beta-thalassaemia.

摘要

对50例有染色体或基因异常风险的孕妇，在妊娠8至12周期间进行了绒毛膜活检以进行产前诊断。对45例患者的样本进行了核型分析。对5例患者进行了DNA分析以检测纯合β地中海贫血。在通过核型分析确认胎儿为男性后，对1例胎儿有血友病风险的患者样本进行了DNA分析。在4例胎儿中检测到异常核型，而3例有纯合β地中海贫血。