Utility of chromosomal microarray for diagnosis in cases of nonimmune hydrops fetalis
Utility of chromosomal microarray for diagnosis in cases of nonimmune hydrops fetalis
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DOI：
10.1002/pd.5617
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发表时间：
2020-02-11
影响因子：
3
通讯作者：
Sparks, Teresa N.
中科院分区：
文献类型：
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作者：
Mardy, Anne H.;Rangwala, Naseem;Sparks, Teresa N.
目的染色体微阵列技术（CMA）可用于胎儿结构异常的诊断评价。然而，CMA对非免疫性水肿胎儿（NIHF）的效用还不清楚。我们的目的是描述CMA在NIHF诊断评估中的总产量，比较孤立病例与并发结构异常的病例。方法这是一项回顾性队列研究，对2008年至2018年在加州大学旧金山分校弗朗西斯科评估的所有产前诊断NIHF病例进行了评估。结果131例产前诊断为非感染性心力衰竭的新生儿中，有131例为非感染性心力衰竭。在43/44例进行CMA的病例中，结果被归类为正常或可能为良性。1例患者在CMA上发现了21p11.2q22.3的大致病性重复，这可以通过核型检测到，并且与唐氏综合征的诊断一致。有没有增量产量证明CMA超过karyotype.Conclusions在一个队列的产前诊断NIHF的情况下，CMA没有发现任何拷贝数变异超出那些可检测的核型，绝大多数的CMA是正常的。这些结果表明，CMA对NIHF的诊断效用较低。
Purpose Chromosomal microarray (CMA) is recommended in the diagnostic evaluation of cases with fetal structural anomalies when invasive testing is pursued. However, the utility of CMA for nonimmune hydrops fetalis (NIHF) specifically is not well known. Our objective was to describe the overall yield of CMA in the diagnostic evaluation of NIHF, comparing isolated cases to those with concurrent structural anomalies.Methods This was a retrospective cohort study of all prenatally diagnosed NIHF cases evaluated at the University of California, San Francisco from 2008 to 2018. NIHF due to twin-twin transfusion syndrome was excluded.Results There were 131 cases of prenatally diagnosed NIHF. In 43/44 cases with a CMA performed, results were categorized as normal or likely benign. One case was found on CMA to have a large pathogenic duplication of 21p11.2q22.3, which could have been detected by karyotype and was consistent with a diagnosis of Down syndrome. There was no incremental yield demonstrated for CMA over karyotype.Conclusions Among a cohort of prenatally diagnosed NIHF cases, CMA did not identify any copy number variants beyond those detectable by karyotype, and the vast majority of CMAs were normal. These results suggest that CMA has low diagnostic utility for NIHF.