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Prenatal diagnosis and follow‐up of a case of branchio‐oto‐renal syndrome displays renal growth impairment after the second trimester
Author(s) -
Bertucci Emma,
Mazza Vincenzo,
Lugli Licia,
Ferrari Fabrizio,
Stanghellini Ilaria,
Percesepe Antonio
Publication year - 2015
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/jog.12791
Subject(s) - medicine , hypoplasia , first trimester , prenatal diagnosis , pregnancy , hearing loss , sensorineural hearing loss , kidney , urology , obstetrics , pediatrics , fetus , audiology , biology , genetics
Branchio‐oto‐renal syndrome combines branchial arch defects, hearing impairment and renal malformations or hypoplasia. Due to the high phenotypic variability, prenatal diagnosis has a limited prognostic value in mutation‐positive cases. We report the first branchio‐oto‐renal syndrome molecular prenatal diagnosis and ultrasonographic follow‐up, showing a normal renal growth until the 24th week of pregnancy, a growth deceleration during the third trimester and a renal volume recovery during the first months of life.