Clinical application of medical exome sequencing for prenatal diagnosis of fetal structural anomalies.

European Journal of Obstetrics & Gynecology and Reproductive Biology(2020)

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摘要
MES can identify the underlying genetic cause in fetal structural anomalies. It can further assist the management of pregnancy and genetic counseling. It was demonstrated the importance of translating prenatal MES into clinical practice.
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关键词
fetal structural anomalies,Genomic variants,Medical Exome Sequencing,Next-generation sequencing,whole-exome sequencing,Prenatal diagnosis
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