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细胞培养中代谢异常的产前诊断(作者译)

[Prenatal diagnosis of metabolic abnormalities in cell cultures (author's transl)].

作者信息

Wöhler W, Rüdiger H W

出版信息

MMW Munch Med Wochenschr. 1975 Oct 24;117(43):1725-30.

PMID:810704
Abstract

About 40 of the genetically induced metabolic defects in humans which are known today can be diagnosed prenatally. The diagnosis of some diseases is possible from the amnionic liquor itself or from uncultivated amnion cells. But in many cases it is necessary to perform the tests for prenatal diagnosis of a biochemical defect with cultivated amnion cells. Of the numerous test procedures, 4 methods, different in principle, will be described here. They all permit a reliable prenatal diagnosis with a minimum of time and cell material.

摘要

目前已知的人类遗传性代谢缺陷中,约有40种可以在产前进行诊断。某些疾病可以通过羊水本身或未培养的羊膜细胞进行诊断。但在许多情况下,必须使用培养的羊膜细胞进行生化缺陷的产前诊断测试。在众多测试程序中,这里将描述4种原理不同的方法。它们都能以最少的时间和细胞材料进行可靠的产前诊断。

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