Nonimmune hydrops fetalis: Genetic analysis and clinical outcome
Nonimmune hydrops fetalis: Genetic analysis and clinical outcome
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非免疫性胎儿水肿：遗传分析和临床结果
DOI：
10.1002/pd.5691
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发表时间：
2020-05-03
影响因子：
3
通讯作者：
Liao, Can
中科院分区：
文献类型：
--
作者：
Deng, Qiong;Fu, Fang;Liao, Can
目的探讨非免疫性胎儿水肿（NIHF）的遗传病因及临床结局。最初的基因检测包括非整倍体的定量荧光聚合酶链反应、核型分析和染色体微阵列分析（CMA）。在阴性结果中，对胎儿和父母进行全外显子组测序（WES）。临床产后随访assessments.Results 109例患者符合研究纳入标准，并依次进行遗传学评估的核型，CMA和WES。其中，24.8%（27/109）有临床显著的遗传异常：21例（19%）有异常核型; 3/72例有致病性/可能致病的拷贝数变异（额外产率= 4.2%）; 3例有单基因疾病。基因检测阳性和阴性病例的妊娠终止率和活产率分别为92.6%和3.7%（P <0.05）。在临床随访的幸存者，3/23（13.0%）的儿童开发了一个额外的phenotype.Conclusion这项研究提高了我们的理解CMA和WES诊断率NIHF。NIHF的基因诊断有助于确定胎儿预后和复发风险，并影响妊娠决策。
Objective To investigate the genetic causes and clinical outcomes of nonimmune hydrops fetalis (NIHF).Methods Cohort of cases of NIHF between July 2013 and December 2018. Initial genetic testing included quantitative fluorescence polymerase chain reaction for aneuploidies, karyotyping and chromosomal microarray analysis (CMA). In negative results, whole exome sequencing (WES) of the fetuses and parents was performed. Clinical post-natal follow-up assessments were conducted.Results One hundred and nine patients fulfilled the study inclusion criteria and were sequentially genetically assessed by karyotype, CMA and WES. Among them, 24.8% (27/109) had a clinically significant genetic abnormality: 21 (19%) had abnormal karyotypes; 3/72 had pathogenic/likely pathogenic copy number variants (additional yield = 4.2%); and 3 had single gene disorders. The pregnancy termination and live birth rates of the cases with positive genetic testing results were significantly different from those with negative results (92.6% vs 53.7% and 3.7% vs 31.7%, respectively, P < .05 for both). During clinical follow-up of the survivors, 3/23 (13.0%) children developed an additional phenotype.Conclusion This study improves our understanding of the diagnostic yield of CMA and WES for NIHF. A genetic diagnosis of NIHF can help determine the fetal prognosis and recurrence risk and influence pregnancy decision-making.