《新一代测序时代非免疫性胎儿水肿病因学研究：单中心经验》。
An Investigation of the Etiologies of Non-Immune Hydrops Fetalis in the Era of Next-Generation Sequence-A Single Center Experience.
机构信息
Department of Fetal Medicine and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 201204, China.
出版信息
Genes (Basel). 2022 Nov 28;13(12):2231. doi: 10.3390/genes13122231.
(1) Background: Numerous etiologies may lead to non-immune hydrops fetalis (NIHF). However, the causes remain unclear in half of NIHF cases following current standard assessment. The application of prenatal chromosomal microarray analysis (CMA) and exome sequencing (ES) can improve the identification of the etiologies. This study aimed to investigate the etiologies of NIHF in the era of next-generation sequence (NGS) following a unified prenatal work-up flow for diagnosis. (2) Methods: A retrospective analysis was conducted on NIHF cases that were collected prospectively to explore the underlying etiologies according to a unified prenatal diagnosis work-up flow at Shanghai First Maternity and Infant Hospital between Jan 2016 and Dec 2019. The medical records for all NIHF cases were reviewed, and the causes of NIHF were classified as confirmed (diagnostic), suspected, or unknown. (3) Results: Prenatal and postnatal medical records for a total of 145 NIHF cases were reviewed, 48.3% (70/145) of the cases were identified to be with confirmed etiologies, and 10.3% (15/145) with suspected etiologies. Among 85 cases with confirmed or suspected etiologies, 44.7% were diagnosed with genetic disorders, 20% with chylothorax/chyloascites diagnosed postnatally, 12.9% with fetal structural anomalies, 12.9% with fetal anemia, 7% (6 cases) with fetal arrhythmia, and 2.3% (2 cases) with placenta chorioangioma. In cases with genetic disorders, 8 aneuploidies were detected by CMA, and 30 cases had single-gene disorders identified by ES (29/30) or targeted gene panel (1/30). There were still 41.4% cases (60/145) with unknown causes after this unified prenatal diagnostic work-up flow. (4) Conclusions: In the era of NGS, the causes of NIHF were identified in 58.6% of cases, with genetic disorders being the most common ones. NGS is helpful in determining the genetic etiology of NIHF when CMA results cannot explain NIHF, but 41.4% of cases were still with unknown causes under the unified prenatal diagnostic work-up flow in this single-center study.
(1) 背景：许多病因可导致非免疫性胎儿水肿（NIHF）。然而，在当前标准评估后，仍有一半的 NIHF 病例病因不明。产前染色体微阵列分析（CMA）和外显子组测序（ES）的应用可以提高病因的识别能力。本研究旨在探讨在下一代测序（NGS）时代，通过统一的产前诊断工作流程进行诊断后 NIHF 的病因。(2) 方法：对 2016 年 1 月至 2019 年 12 月在上海第一妇婴保健院前瞻性收集的 NIHF 病例进行回顾性分析，根据统一的产前诊断工作流程探讨潜在病因。回顾性分析所有 NIHF 病例的病历资料，将 NIHF 病因分为确诊（诊断）、疑似和不明。(3) 结果：共回顾 145 例 NIHF 病例的产前和产后病历，其中 48.3%（70/145）病例病因明确，10.3%（15/145）病例病因疑似。在 85 例有明确或疑似病因的病例中，44.7%诊断为遗传疾病，20%产后诊断为乳糜胸/乳糜腹，12.9%胎儿结构异常，12.9%胎儿贫血，7%（6 例）胎儿心律失常，2.3%（2 例）胎盘绒毛膜血管瘤。在遗传疾病中，CMA 检测到 8 例非整倍体，ES（29/30）或靶向基因panel（1/30）鉴定出 30 例单基因疾病。经过统一的产前诊断工作流程后，仍有 41.4%（60/145）的病例病因不明。(4) 结论：在 NGS 时代，通过 58.6%的病例确定了 NIHF 的病因，其中遗传疾病最为常见。当 CMA 结果不能解释 NIHF 时，NGS 有助于确定 NIHF 的遗传病因，但在这项单中心研究中，经过统一的产前诊断工作流程后，仍有 41.4%的病例病因不明。
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