title: Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester.
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.
authors.affiliation: Obstetrics and Gynaecology, Department of Mother and Child, University Hospital of Modena, Italy.
authors.forename: Emma
authors.initials: E
authors.lastname: Bertucci
authors.affiliation: Obstetrics and Gynaecology, Department of Mother and Child, University Hospital of Modena, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Mazza
authors.affiliation: Neonatal Intensive Care, Department of Mother and Child, University Hospital of Modena, Italy.
authors.forename: Licia
authors.initials: L
authors.lastname: Lugli
authors.affiliation: Neonatal Intensive Care, Department of Mother and Child, University Hospital of Modena, Italy.
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Ferrari
authors.affiliation: Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Modena, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Stanghellini
authors.affiliation: Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Modena, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Percesepe
mesh_terms: D000328:Adult; D019280:Branchio-Oto-Renal Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007668:Kidney / Q000196:embryology*; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal
keywords: branchio-oto-renal syndrome; genetic test; prenatal diagnosis