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[羊水基因缺陷的产前诊断。经验报告]

[Prenatal diagnosis of genetic defects from the amniotic fluid. Report of experiences].

作者信息

Körner H, Halle H, Wagenknecht C

出版信息

Zentralbl Gynakol. 1977;99(12):725-34.

PMID:70907
Abstract

42 pregnancies were monitored by transabdominal amniocentesis followed by karyotyping. Biochemical assays of cultured amniotic fluid cells, 50 analysis of alpha1-fetoprotein and estimations of the number of y-bodies in the amniotic fluid cells was also made. One chromosomal aberration (47, XY, + 18) was found in 13 pregnancies tested because of advanced maternal age. In 6 pregnancies with a recurrence risk of Down's Syndrom, one fetus with abnormal karyotype (46, XY, 5p-) was detected.

摘要

42例妊娠通过经腹羊膜穿刺术及随后的染色体核型分析进行监测。还对培养的羊水细胞进行了生化检测、甲胎蛋白的50项分析以及羊水细胞中Y小体数量的评估。在因孕妇年龄较大而接受检测的13例妊娠中,发现了1例染色体畸变(47,XY,+18)。在6例有唐氏综合征复发风险的妊娠中,检测到1例胎儿核型异常(46,XY,5p-)。

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