针对不明围产期疾病的基因检测。
Genetic testing for unexplained perinatal disorders.
机构信息
Division of Neonatology, Department of Pediatrics, Columbia University Irving Medical Center.
Department of Obstetrics and Gynecology, Columbia University Irving Medical Center.
出版信息
Curr Opin Pediatr. 2021 Apr 1;33(2):195-202. doi: 10.1097/MOP.0000000000000999.
PURPOSE OF REVIEW
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.
RECENT FINDINGS
Exome and genome sequencing (ES and GS) 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.
SUMMARY
Perinatal disorders of unknown cause, with nonspecific presentations, are often caused by genetic diseases best diagnosed by ES or GS. Prompt diagnosis facilitates improved clinical care. Improvements in noninvasive sampling, variant interpretation, and population-level research will further enhance the clinical utility of genetic testing.
VIDEO ABSTRACT
目的综述
围产期疾病包括死胎、先天性结构异常和新生儿期的严重疾病。尽管进行了彻底的临床检查，这些疾病的病因通常仍不清楚。遗传疾病导致了围产期疾病的很大一部分。本文的目的是描述目前对原因不明的围产期疾病的遗传检测的最新进展，并提供潜在的诊断策略。
最近的发现
外显子组和基因组测序（ES 和 GS）表明，很大一部分围产期疾病是由遗传疾病引起的。然而，在胎儿和新生儿队列中，确切比例的估计值差异很大，并且在最近的研究中发现的大多数遗传诊断都是针对个别病例的。明确的遗传诊断具有重要的临床应用价值，包括改善预后、针对性治疗、相关综合征表现的定向检测、向适当专科医生转诊、计划生育以及重新规划治疗。
总结
原因不明的围产期疾病，表现为非特异性，通常由遗传疾病引起，ES 或 GS 是最佳诊断方法。及时诊断有助于改善临床护理。非侵入性采样、变异解读和人群研究的改进将进一步提高遗传检测的临床应用价值。
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