外显子组测序
医学
外显子组
遗传咨询
产前诊断
全基因组测序
周转时间
DNA测序
计算生物学
基因组
胎儿
怀孕
遗传学
突变
操作系统
基因
生物
DNA
计算机科学
作者
Neeta L. Vora,Mary E. Norton
标识
DOI:10.1016/j.ajog.2022.08.040
摘要
As prenatal exome sequencing becomes integrated into clinical care, it is critical that providers caring for women with fetal anomalies recognize not only the benefits, but also the challenges and considerations related to this technology. This overview of prenatal sequencing includes information about indications for sequencing, methods, diagnostic yield, clinical utility, variant interpretation, ethical considerations and dilemmas, practical considerations (ie, turnaround time and cost), pre- and posttest counseling points, and psychological impact of testing on families.
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