Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.
Xinyue ZhangYuan RenRui SongLongxia WangHong XuXiaoxiao XieHonghui ZhouPei SunManli ZhangQingdong ZhaoYanqin YouZhiying GaoYuanguang MengYanping LuPublished in: Prenatal diagnosis (2021)
ES or panel sequencing offers a high diagnostic yield for fetal skeletal dysplasia during the first and second trimesters. Comprehensive and complete phenotypic information is indispensable for genetic analysis and the expansion of genotype-phenotype correlations in fetal skeletal abnormalities.