학술논문
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort
Document Type
Article
Author
Scott, Alexandra; Di Giosaffatte, Niccolò; Pinna, Valentina; Daniele, Paola; Corno, Sara; D’Ambrosio, Valentina; Andreucci, Elena; Marozza, Annabella; Sirchia, Fabio; Tortora, Giada; Mangiameli, Daniela; Di Marco, Chiara; Romagnoli, Maria; Donati, Ilaria; Zonta, Andrea; Grosso, Enrico; Naretto, Valeria Giorgia; Mastromoro, Gioia; Versacci, Paolo; Pantaleoni, Francesca; Radio, Francesca Clementina; Mazza, Tommaso; Damante, Giuseppe; Papi, Laura; Mattina, Teresa; Giancotti, Antonella; Pizzuti, Antonio; Laberge, Anne-Marie; Tartaglia, Marco; Delrue, Marie-Ange; De Luca, Alessandro
Source
Genetics in Medicine; June 2021, Vol. 23 Issue: 6 p1116-1124, 9p
Subject
Language
ISSN
10983600; 15300366
Abstract
Recent studies have identified suggestive prenatal features of RASopathies (e.g., increased nuchal translucency [NT], cystic hygroma [CH], hydrops, effusions, congenital heart diseases [CHD], polyhydramnios, renal anomalies). Our objective is to clarify indications for RASopathy prenatal testing. We compare genotype distributions between pre- and postnatal populations and propose genotype–phenotype correlations.