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.

Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings / Mastromoro, Gioia; Guadagnolo, Daniele; Giancotti, Antonella; Grazia Di Gregorio, Maria; Marchionni, Enrica; Vena, Flaminia; Romana Lepri, Francesca; Bargiacchi, Lavinia; Ventriglia, Flavia; DI GIOIA, Cira Rosaria Tiziana; Novelli, Antonio; Pizzuti, Antonio. - In: EUROPEAN JOURNAL OF MEDICAL GENETICS. - ISSN 1769-7212. - (2021). [10.1016/j.ejmg.2020.104106]

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

Gioia Mastromoro
;
Daniele Guadagnolo;Antonella Giancotti;Enrica Marchionni;Flaminia Vena;Lavinia Bargiacchi;Flavia Ventriglia;Cira Di Gioia;Antonio Pizzuti
2021

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.
Genotype-phenotype correlations; Hydrops; Lymphatic dysplasia; PIEZO1
01 Pubblicazione su rivista::01a Articolo in rivista
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings / Mastromoro, Gioia; Guadagnolo, Daniele; Giancotti, Antonella; Grazia Di Gregorio, Maria; Marchionni, Enrica; Vena, Flaminia; Romana Lepri, Francesca; Bargiacchi, Lavinia; Ventriglia, Flavia; DI GIOIA, Cira Rosaria Tiziana; Novelli, Antonio; Pizzuti, Antonio. - In: EUROPEAN JOURNAL OF MEDICAL GENETICS. - ISSN 1769-7212. - (2021). [10.1016/j.ejmg.2020.104106]
File allegati a questo prodotto
File Dimensione Formato  
Mastromoro_Recurrent_2021.pdf

solo gestori archivio

Tipologia: Versione editoriale (versione pubblicata con il layout dell'editore)
Licenza: Tutti i diritti riservati (All rights reserved)
Dimensione 3.09 MB
Formato Adobe PDF
3.09 MB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1496224
Citazioni
  • ???jsp.display-item.citation.pmc??? 2
  • Scopus 6
  • ???jsp.display-item.citation.isi??? 5
social impact