Gioia Mastromoro, Daniele Guadagnolo, Antonella Giancotti, Maria Grazia Di Gregorio, Enrica Marchionni, Flaminia Vena, Francesca Romana Lepri, Lavinia Bargiacchi, Flavia Ventriglia, Cira Di Gioia, Antonio Novelli, Antonio Pizzuti
Sapienza University of Rome. Ospedale San Pietro Fatebenefratelli. Bambino Gesù Children’s Hospital. University of Rome.
Italy
European Journal of Medical Genetics
Eur J Med Genet 2021; 64:
DOI: 10.1016/j.ejmg.2020.104106
Abstract
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.
Category
Pulmonary Lymphatic Disease
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication
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