Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis
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DOI：
10.1038/gim.2018.11
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发表时间：
2018-11-01
影响因子：
8.8
通讯作者：
Tang, Sha
中科院分区：
文献类型：
--
作者：
Powis, Zoe;Hagman, Kelly D. Farwell;Tang, Sha
目的：新生儿患者特别适合利用诊断外显子组测序 (DES)，因为已知许多孟德尔疾病出现在这个生命阶段，但通常具有复杂、异质的特征。我们试图确定接受 DES 的新生儿患者的诊断率和特征。方法：回顾性审查了 66 例接受 DES 的新生儿患者的临床病史和结果。结果：临床 DES 在 25 名患者 (37.9%) 中发现了潜在的相关发现。大多数患者存在结构异常，如出生缺陷、畸形特征、心脏、颅面和骨骼缺陷。临床快速检测的平均时间为8天。结论：我们的观察证明了基于家族的外显子组测序在新生儿患者中的实用性，包括家族共隔离分析和全面的医学审查。
Purpose: Neonatal patients are particularly appropriate for utilization of diagnostic exome sequencing (DES), as many Mendelian diseases are known to present in this period of life but often with complex, heterogeneous features. We attempted to determine the diagnostic rates and features of neonatal patients undergoing DES.Methods: The clinical histories and results of 66 neonatal patients undergoing DES were retrospectively reviewed.Results: Clinical DES identified potentially relevant findings in 25 patients (37.9%). The majority of patients had structural anomalies such as birth defects, dysmorphic features, cardiac, craniofacial, and skeletal defects. The average time for clinical rapid testing was 8 days.Conclusion: Our observations demonstrate the utility of familybased exome sequencing in neonatal patients, including familial cosegregation analysis and comprehensive medical review.