Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).

Gordon K C Leung,Christopher C Y Mak,Jasmine L F Fung,Wilfred H S Wong,Mandy H Y Tsang,Mullin H C Yu,Steven L C Pei, K S Yeung,Gary T K Mok,C P Lee,Amelia P W Hui,Mary H Y Tang,Kelvin Y K Chan,Anthony P Y Liu,Wanling Yang,P C Sham,Anita S Y Kan,Brian H Y Chung

BMC medical genomics（2018）

引用 27|浏览23

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摘要

WES identified pathogenic mutations in 9.1% of fetuses with SCAs and normal chromosomal microarray results. Databases for fetal genotype-phenotype correlations and standardized guidelines for variant interpretation in prenatal diagnosis need to be established to facilitate the use of WES for routine testing in prenatal diagnosis.

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关键词

Phenotyping,Prenatal exome,Variants of unknown clinical significance

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