[Pre-conception carrier screening for 21 inherited metabolic diseases in a Chinese population].

Xilin Xu,Wenbin He,Ying Wang,Fei Gong,Guangxiu Lu,Ge Lin,Yueqiu Tan,Juan Du

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2022）

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摘要

This study has preliminarily determined the carrier rate and incidence of 21 inherited metabolic diseases among a Chinese population of childbearing age, which has provided valuable information for the design of neonatal screening program for inherited metabolic diseases. Pre-conception carrier screening can provide an important measure for the prevention of transmission of Mendelian disorders in the population.

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关键词

Whole exome sequencing,Pre-conception genetic testing,Inherited metabolic disease,Genetic variant

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