Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis.
Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis.
复制标题
外显子组测序在复发性非免疫性胎儿水肿诊断和治疗中的价值：回顾性分析
DOI：
10.3389/fgene.2021.616392
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发表时间：
2021
影响因子：
3.7
通讯作者：
Sun L
中科院分区：
文献类型：
--
作者：
Zhou X;Zhou J;Wei X;Yao R;Yang Y;Deng L;Zou G;Wang X;Yang Y;Duan T;Wang J;Sun L
本研究的目的是通过外显子组测序，研究单基因异常在复发性非免疫性胎儿积水(NIHF)中的作用，并回顾性评价基因诊断在产前管理和妊娠结局中的价值。自2012年1月至2018年10月，对28例反复发生新生儿出血性心力衰竭的胎儿进行了TRIO ES分析。排除有免疫积水、非遗传因素(包括感染等)、核型或CNV异常的胎儿。根据ACMG/AMP指南对变异进行解释。对7例胎儿进行了胎儿治疗。在28个胎儿中，发现10个(36%)携带8个基因(GBA、GUSB、GBE1、RAPSN、FOXC2、PIEZO1、LZTR1和FOXP3)的致病或可能致病的遗传变异。5例(18%)胎儿有不确定意义的变异(S)。在10个明确的分子诊断的胎儿中，5个(50%)被诊断为先天性代谢错误。在接受胎儿治疗的七个胎儿中，有两个得到了明确的分子诊断，并导致了新生儿死亡。在其余5名结果为阴性的胎儿中，4名新生儿存活，1名胎儿宫内死亡。TRIO ES可促进复发新生儿出血性心力衰竭的基因诊断，改善产前管理和妊娠结局。
The purpose of the study was to use exome sequencing (ES) to study the contribution of single-gene disorders to recurrent non-immune hydrops fetalis (NIHF) and retrospectively evaluate the value of genetic diagnosis on prenatal management and pregnancy outcome. From January 2012 to October 2018, a cohort of 28 fetuses with recurrent NIHF was analyzed by trio ES. Fetuses with immune hydrops, non-genetic factors (including infection, etc.), karyotype, or CNV abnormalities were excluded. Variants were interpreted based on ACMG/AMP guidelines. Fetal therapy was performed on seven fetuses. Of the 28 fetuses, 10 (36%) were found to carry causal genetic variants (pathogenic or likely pathogenic) in eight genes (GBA, GUSB, GBE1, RAPSN, FOXC2, PIEZO1, LZTR1, and FOXP3). Five (18%) fetuses had variant(s) of uncertain significance (VUS). Of the 10 fetuses with definitive molecular diagnosis, five (50%) were diagnosed with inborn errors of metabolism. Among the seven fetuses who received fetal therapy, two had definitive molecular diagnosis and resulted in neonatal death. Among the remaining five fetuses with negative results, four had newborn survival and one had intrauterine fetal death. Trio ES could facilitate genetic diagnosis of recurrent NIHF and improve the prenatal management and pregnancy outcome.
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DOI：
10.1038/gim.2017.33
发表时间：
2017-11
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
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3
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2
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通讯作者：
Hennekam, Raoul C.
影响因子：
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作者：
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通讯作者：
Sparks, Teresa N.
DOI：
10.1007/8904_2016_24
发表时间：
2017-01-01
期刊：
JIMD REPORTS, VOL 35
影响因子：
--
作者：
Sheth, Jayesh;Mistri, Mehul;Sheth, Frenny
通讯作者：
Sheth, Frenny