Unexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and pregnancy management. Postnatally exome sequencing yields high diagnostic rates, but relies on careful phenotyping to interpret genotype results. Here we used a multidisciplinary approach to explore the utility of rapid fetal exome sequencing for prenatal diagnosis using skeletal dysplasias as an exemplar.

中文翻译：

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使用靶向外显子组测序进行快速产前诊断：一项评估可行性和对产前咨询和妊娠管理的潜在影响的队列研究。

意外的胎儿异常发生在 2-5% 的妊娠中。虽然传统的细胞遗传学和微阵列方法在大约 40% 的病例中实现了诊断，但在其他病例中缺乏诊断阻碍了父母咨询、知情决策和妊娠管理。出生后外显子组测序的诊断率很高，但依赖于仔细的表型分析来解释基因型结果。在这里，我们使用多学科方法来探索快速胎儿外显子组测序在产前诊断中的效用，以骨骼发育不良为例。