Underlying genetic etiologies of congenital diaphragmatic hernia.
Underlying genetic etiologies of congenital diaphragmatic hernia.
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先天性膈疝的潜在遗传病因。
DOI：
10.1002/pd.6099
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发表时间：
2022-03
影响因子：
3
通讯作者：
Adams AD
中科院分区：
文献类型：
--
作者：
Scott DA;Gofin Y;Berry AM;Adams AD
先天性膈疝 (CDH) 通常在产前即可发现。基因检测的进步使得对许多患有 CDH 的胎儿进行分子诊断成为可能。在这里，我们回顾了与 CDH 明确相关的非整倍体、拷贝数变异 (CNV) 和单基因。我们建议基于芯片的 CNV 分析（无论是否进行染色体分析）是识别 CDH 胎儿染色体异常和 CNV 的最佳测试。为了识别致病序列变异，全外显子组测序（WES）是目前可用的最全面的策略。结合 CNV 分析的全基因组测序 (WGS) 有可能成为识别潜在诊断的最高效、最有效的手段，但尚未常规用于产前诊断。我们描述了如何克服和解决基因检测后可能存在的诊断和临床不确定性，并回顾分子诊断如何影响复发风险估计、死亡率以及胎儿治疗的可用性和结果。我们的结论是，在产前检测出 CDH 后，应根据公认的产前咨询指南，向患者咨询 CDH 的可能遗传原因以及可用的基因检测方式。
Congenital diaphragmatic hernia (CDH) is often detectable prenatally. Advances in genetic testing have made it possible to obtain a molecular diagnosis in many fetuses with CDH. Here, we review the aneuploidies, copy number variants (CNVs), and single genes that have been clearly associated with CDH. We suggest that array-based CNV analysis, with or without a chromosome analysis, is the optimal test for identifying chromosomal abnormalities and CNVs in fetuses with CDH. To identify causative sequence variants, whole exome sequencing (WES) is the most comprehensive strategy currently available. Whole genome sequencing (WGS) with CNV analysis has the potential to become the most efficient and effective means of identifying an underlying diagnosis but is not yet routinely available for prenatal diagnosis. We describe how to overcome and address the diagnostic and clinical uncertainty that may remain after genetic testing, and review how a molecular diagnosis may impact recurrence risk estimations, mortality rates, and the availability and outcomes of fetal therapy. We conclude that after the prenatal detection of CDH, patients should be counseled about the possible genetic causes of the CDH, and the genetic testing modalities available to them, in accordance with generally accepted guidelines for pretest counseling in the prenatal setting.
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影响因子：
4.6
作者：
Bustos F;Espejo-Serrano C;Segarra-Fas A;Toth R;Eaton AJ;Kernohan KD;Wilson MJ;Riley LG;Findlay GM
通讯作者：
Findlay GM
影响因子：
5.2
作者：
Brady, Paul D.;Van Esch, Hilde;Vermeesch, Joris R.
通讯作者：
Vermeesch, Joris R.
影响因子：
2
作者：
Arrington, Cammon B.;Bleyl, Steven B.;Matsunami, Nori;Bowles, Neil E.;Leppert, Tami I.;Demarest, Bradley L.;Osborne, Karen;Yoder, Bradley A.;Byrne, Janice L.;Schiffman, Joshua D.;Null, Donald M.;DiGeronimo, Robert;Rollins, Michael;Faix, Roger;Comstock, Jessica;Camp, Nicola J.;Leppert, Mark F.;Yost, H. Joseph;Brunelli, Luca
通讯作者：
Brunelli, Luca
影响因子：
5.1
作者：
Cohen, MS;Rychik, J;Crombleholme, TM
通讯作者：
Crombleholme, TM
影响因子：
2.6
作者：
Beck, Cornelia;Alkasi, Oezkan;von Kaisenberg, Constantin S.
通讯作者：
von Kaisenberg, Constantin S.