Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Rome, Italy.
Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Rome, Italy.
Eur J Med Genet. 2021 Jan;64(1):104106. doi: 10.1016/j.ejmg.2020.104106. Epub 2020 Nov 20.
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.
全身性淋巴发育不良（GLD）的特征为淋巴水肿、淋巴管扩张、乳糜胸、积液，是胎儿水肿的公认病因。我们首次描述了复发性妊娠表现出不同的淋巴发育不良超声表现。第一例胎儿显示弥漫性皮下囊肿和分隔，而第二例胎儿表现为胎儿水肿。第二例妊娠 18 周时的外显子组测序结果显示两个新型 PIEZO1 变异体的复合杂合性，随后在第一例胎儿和杂合父母中也检测到了这两个变异体。超声和遗传发现扩展了 PIEZO1 相关 GLD 的现有知识。我们建议对核型正常的水肿胎儿以及复发性水肿/淋巴发育不良的妊娠进行外显子组测序。
