Genetic testing for unexplained perinatal disorders.
Genetic testing for unexplained perinatal disorders.
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DOI：
10.1097/mop.0000000000000999
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发表时间：
2021-04-01
影响因子：
3.6
通讯作者：
Wapner RJ
中科院分区：
文献类型：
--
作者：
Hays T;Wapner RJ
围产期疾病包括死产、先天结构异常和新生儿的危重疾病。尽管进行了彻底的临床检查，但这些疾病的原因往往是未知的。遗传病导致了围产期疾病的很大一部分。本综述的目的是描述不明原因围产期疾病基因检测的最新进展，并提供潜在的诊断策略。外显子组和基因组测序已经证明，围产期疾病的很大一部分是由遗传病引起的。然而，对确切比例的估计在胎儿和新生儿队列中差异很大，最近的研究中发现的大多数基因诊断都是针对个别病例的。拥有特定的基因诊断提供了重要的临床实用价值，包括改善结果的预测，量身定做的治疗，相关综合征表现的直接测试，转诊到适当的专科医生，计划生育和重新定向护理。不明原因的围产期疾病通常是由遗传性疾病引起的，这些疾病通常由外显子组或基因组测序诊断。及时诊断有助于改善临床护理。在非侵入性采样、变异解释和群体水平研究方面的改进将进一步提高基因检测的临床实用性。Http://links.lww.com/...
Perinatal disorders include stillbirth, congenital structural anomalies, and critical illnesses in neonates. The cause of these is often unknown despite a thorough clinical workup. Genetic diseases cause a significant portion of perinatal disorders. The purpose of this review is to describe recent advances in genetic testing of perinatal disorders of unknown cause, and to provide a potential diagnostic strategy. Exome and genome sequencing have demonstrated that significant portions of perinatal disorders are caused by genetic disease. However, estimates of the exact proportion have varied widely across fetal and neonatal cohorts and most of the genetic diagnoses found in recent studies have been unique to individual cases. Having a specific genetic diagnosis provides significant clinical utility, including improved prognostication of the outcome, tailored therapy, directed testing for associated syndromic manifestations, referral to appropriate subspecialists, family planning, and redirection of care. Perinatal disorders of unknown cause, with nonspecific presentations, are often caused by genetic diseases best diagnosed by exome or genome sequencing. Prompt diagnosis facilitates improved clinical care. Improvements in non-invasive sampling, variant interpretation, and population level research will further enhance the clinical utility of genetic testing. http://links.lww.com/...