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产前诊断13三体综合征伴甲胎蛋白意外升高。

Antenatal diagnosis of trisomy 13 with unexpected increase in alpha-feto protein.

作者信息

Fitzsimmons J S, Filshie G M, Hill A S, Kime R

出版信息

J Med Genet. 1976 Oct;13(5):400-2. doi: 10.1136/jmg.13.5.400.

Abstract

A 24-year-old woman who had previously given birth to an infant with Down's syndrome was shown by chromosomal analysis of the liquor amnii to be carrying an infant with trisomy D. Routine examination of serum and liquor alpha-feto protein (AFP) in the antenatal period showed unexpected high levels of both, consistent with a neural tube defect. The fetus, however, did not have evidence of a neural tube defect but had scalp defects which were presumed to have allowed the leakage of AFP from the fetus into the liquor amnii and hance into the maternal serum.

摘要

一名24岁的女性,此前曾产下一名患有唐氏综合征的婴儿。经羊水染色体分析显示,她此次怀有一名患有D三体综合征的胎儿。孕期血清和羊水甲胎蛋白(AFP)的常规检查显示二者水平均意外升高,这与神经管缺陷相符。然而,胎儿并无神经管缺陷的迹象,而是有头皮缺损,推测这使得AFP从胎儿渗漏到羊水中,进而进入母体血清。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aca5/1013448/bb4e658cc690/jmedgene00312-0064-a.jpg

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