The etiology of nonimmune hydrops fetalis is extensive and includes genetic disorders. We describe a term‐born female neonate with late onset extensive nonimmune hydrops, that is, polyhydramnios, edema, and congenital bilateral chylothorax. This newborn was successfully treated with repetitive thoracocentesis, total parenteral feeding, octreotide intravenously and finally surgical pleurodesis and corticosteroids. A genetic cause seemed plausible as the maternal history revealed a fatal nonimmune hydrops fetalis. A homozygous truncating variant in GDF2 (c.451C>T, p.(Arg151*)) was detected with exome sequencing. Genetic analysis of tissue obtained from the deceased fetal sibling revealed the same homozygous variant. The parents and two healthy siblings were heterozygous for the GDF2 variant. Skin and lung biopsies in the index patient, as well as the revised lung biopsy of the deceased fetal sibling, showed lymphatic dysplasia and lymphangiectasia. To the best of our knowledge, this is the first report of an association between a homozygous variant in GDF2 with lymphatic dysplasia, hydrothorax and nonimmune hydrops fetalis.

中文翻译：

---

生长和分化因子2（GDF2）的纯合变异可能会导致胸膜积水和胎儿非免疫性积水。

胎儿非免疫性积水的病因广泛，包括遗传性疾病。我们描述了足月出生的女性新生儿，其晚期迟发性广泛性非免疫性积水，即羊水过多，浮肿和先天性双侧乳糜胸。该新生儿经反复胸腔穿刺术，全肠胃外喂养，静脉注射奥曲肽并最终通过外科胸膜固定术和糖皮质激素治疗成功。由于母体病史显示致命的非免疫性胎儿水肿，遗传原因似乎是合理的。通过外显子组测序检测到GDF2中的纯合截短变体（c.451C> T，p。（Arg151 *））。从死去的胎儿兄弟姐妹获得的组织的遗传分析显示相同的纯合变异体。父母和两个健康的兄弟姐妹是GDF2的杂合子变体。索引患者的皮肤和肺活检，以及死者胎儿兄弟姐妹的肺活检经修订，均显示淋巴发育不良和淋巴管扩张。据我们所知，这是GDF2的纯合变异与淋巴发育不良，胸膜积水和胎儿非免疫性积水之间相关性的首次报道。