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遗传性代谢疾病的产前诊断

Prenatal diagnosis of inherited metabolic diseases.

作者信息

Diukman R, Goldberg J D

机构信息

Department of Obstetrics, Gynecology and Reproductive Sciences, UCSF School of Medicine 94143-0132.

出版信息

West J Med. 1993 Sep;159(3):374-81.

Abstract

Advances in the prenatal diagnosis of inherited metabolic disease have provided new reproductive options to at-risk couples. These advances have occurred in both sampling techniques and methods of analysis. In this review we present an overview of the currently available prenatal diagnostic approaches for the diagnosis of metabolic disease in a fetus.

摘要

遗传性代谢疾病产前诊断的进展为高危夫妇提供了新的生育选择。这些进展体现在采样技术和分析方法两方面。在本综述中,我们概述了目前可用于诊断胎儿代谢疾病的产前诊断方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/649f/1011353/e24fb639ded3/westjmed00073-0144-a.jpg

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