Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings

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.

Automated summary

The study reports recurrent pregnancies with different ultrasound presentations of lymphatic dysplasia and the identification of two novel PIEZO1 variants in the second pregnancy. These findings expand the current knowledge of PIEZO1-related GLD and suggest exome sequencing in pregnancies with recurrent hydrops/lymphatic dysplasia.