外显子组测序
医学
产前诊断
无症状的
移码突变
孟德尔遗传
错义突变
胎儿
遗传学
回顾性队列研究
基因检测
外显子组
儿科
内科学
怀孕
生物
基因
突变
作者
Guan Wang,Ting Xue,Tian Xie,Min Liang,Longsheng Zhan,Jun-Wei Lin,Xiumin Huang,Xinjin Luo,Qi Tian,Jun Zhang
摘要
The findings of this study suggest that application of ES as a routine test in asymptomatic fetuses undergoing prenatal diagnosis could enhance the detection of Mendelian disorders, thereby providing information to parents about the health of their fetus, providing them with reproductive options, as well as providing the potential for medical interventions prenatally or postnatally. However, challenges may arise in variant interpretation in the absence of phenotype, along with the risk of uncertain outcomes for positive cases.
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