Prenatal diagnosis and follow‐up of a case of branchio‐oto‐renal syndrome displays renal growth impairment after the second trimester. Issue 11 (30th July 2015)

• Record Type: Journal Article
• Authors: Bertucci, Emma; Mazza, Vincenzo; Lugli, Licia; Ferrari, Fabrizio; Stanghellini, Ilaria; Percesepe, Antonio
• Is Part Of: Journal of obstetrics and gynaecology research. Volume 41:Issue 11(2015:Nov.)
• Page Start: 1831
• Page End: 1834
• Publication Date: 2015-07-30
• Subjects: branchio‐oto‐renal syndrome -- genetic test -- prenatal diagnosis; Gynecology -- Periodicals; Obstetrics -- Periodicals; 618.1005
• DOI: 10.1111/jog.12791
• Languages: English
• ISSNs: 1341-8076

Abstract

Abstract: 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.