Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester

被引：4

作者：

Bertucci, Emma ^{[1
]}

Mazza, Vincenzo ^{[1
]}

Lugli, Licia ^{[2
]}

Ferrari, Fabrizio ^{[2
]}

Stanghellini, Ilaria ^{[3
]}

Percesepe, Antonio ^{[3
]}

机构：

[1] Univ Hosp Modena, Dept Mother & Child, Obstet & Gynaecol, I-41124 Modena, Italy

[2] Univ Hosp Modena, Dept Mother & Child, Neonatal Intens Care, I-41124 Modena, Italy

[3] Univ Hosp Modena, Dept Med & Surg Sci, Med Genet, I-41124 Modena, Italy

来源：

JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH | 2015年 / 41卷 / 11期

关键词：

branchio-oto-renal syndrome; genetic test; prenatal diagnosis; LENGTH; VOLUME; FETAL;

D O I：

10.1111/jog.12791

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

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.

引用

页码：1831 / 1834

页数：4

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