Recurrent prenatal piezo1-related lymphatic dysplasia: expanding molecular and ultrasound findings.

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.
PMID: 33227434 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - November 20, 2020 Category: Genetics & Stem Cells Authors: Mastromoro G, Guadagnolo D, Giancotti A, Di Gregorio MG, Marchionni E, Vena F, Lepri FR, Bargiacchi L, Ventriglia F, Di Gioia C, Novelli A, Pizzuti A Tags: Eur J Med Genet Source Type: research