Generalized lymphatic dysplasia (GLD), characterized by lymphedema, lymphangiectasias, chylothorax, effusions, represents a recognized cause of fetal hydrops.

We describe for the first time recurrent pregnancies showing different ultrasound presentations of lymphatic dysplasia. The first fetus displayed diffuse subcutaneous cysts and septations while the second one presented fetal hydrops.

Exome sequencing results at 18 gestational weeks in the second pregnancy showed compound heterozygosity for two novel PIEZO1 variants, afterwards detected also in the first fetus and in the heterozygous parents.

Both ultrasound and genetic findings expand the current knowledge of PIEZO1-related GLD.

We suggest exome sequencing in hydropic fetuses with normal cytogenetics and in pregnancies with recurrent hydrops/lymphatic dysplasia.

以淋巴水肿，淋巴管扩张，乳糜胸，积液为特征的广义淋巴发育不良（GLD）代表了胎儿积液的公认原因。

我们首次描述了复发性妊娠，表现出淋巴发育不良的不同超声表现。第一个胎儿表现为弥漫性皮下囊肿和分隔，而第二个胎儿表现为胎儿积液。

在第二次怀孕的第18个孕周的外显子组测序结果显示，两个新的PIEZO1变体具有复合杂合性，此后在第一胎和杂合父母中也检测到。

超声和遗传学发现均扩展了与PIEZO1相关的GLD的当前知识。

我们建议在细胞遗传学正常的妊娠水肿胎儿和复发性积水/淋巴发育不良的孕妇中进行外显子组测序。