Abstract

Background:

Non-immune fetal hydrops (NIFH) is an etiologically heterogeneous condition. Cardiac anomalies are one of the common causes of NIFH. Cardiac anomalies can be isolated, multifactorial malformations or have a genetic basis. PLD1 variants have been associated with developmental defects involving the right heart. We present a NIFH with a PLD1 associated right heart malformation.

Case report:

We describe a spontaneously aborted 14 weeks old NIFH fetus with a rudimentary right ventricle, pulmonary valve atresia and pulmonary artery stenosis found at fetopsy. After a normal microarray, whole exome sequencing revealed a homozygous missense variant c.2023 C > T (p. Arg675Trp) in the PLD1 gene. Conclusion: Detailed fetopsy and genetic evaluation in this NIFH allowed an etiological explanation, further corroborated the association of PLD1 gene variants and developmental right heart defects, and that this defect can be associated with NIHF.

中文翻译：

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早期水肿病例的下一代测序：结束诊断奥德赛循环！

摘要

背景：

非免疫性胎儿水肿 (NIFH) 是一种病因异质的疾病。心脏异常是 NIFH 的常见原因之一。心脏异常可以是孤立的、多因素畸形或具有遗传基础。PLD1变体与涉及右心的发育缺陷有关。我们提出了一个 NIFH 与PLD1相关的右心畸形。

案例报告：

我们描述了一个自然流产的 14 周大的 NIFH 胎儿，其右心室发育不全，在剖腹产时发现肺动脉瓣闭锁和肺动脉狭窄。正常微阵列后，全外显子组测序显示PLD1基因中存在纯合错义变异 c.2023 C > T (p. Arg675Trp) 。结论：该 NIFH 的详细胎儿解剖和遗传评估允许进行病因学解释，进一步证实了PLD1基因变异与发育性右心缺陷的关联，并且该缺陷可能与 NIHF 相关。