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Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe
Author(s) -
Winding Louise,
Loane Maria,
Wellesley Diana,
Addor MarieClaude,
Arriola Larraitz,
Bakker Marian K.,
Bianchi Fabrizio,
Calzolari Elisa,
Gatt Miriam,
Haeusler Martin,
Lelong Nathalie,
Mullaney Carmel,
Scarano Gioacchino,
Tucker David,
Wiesel Awi,
Garne Ester
Publication year - 2014
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4433
Subject(s) - medicine , epidemiology , prenatal diagnosis , pregnancy , dysplasia , multicystic dysplastic kidney , renal dysplasia , pediatrics , obstetrics , fetus , kidney , biology , genetics
Objectives The aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD). Methods The study is based on routinely collected data from a European database of major congenital anomalies including 13 registries with cases born in 1997–2006 and covering 1 458 552 births. Results There were 601 MCKD cases giving an overall prevalence of 4.12 per 10 000 births with regional variation. In live births, 87% of cases had an isolated renal anomaly and 13% had associated major nonrenal anomalies (chromosomal, syndrome or other major anomalies). For the cases with isolated renal anomalies, 51/386 (11%) and 7/386 (2%) choose to terminate the pregnancy or resulted in an intrauterine fetal death, respectively. The prenatal detection rate was 88% in both unilateral and bilateral cases. Birth outcome differed with 92% of unilateral MCKD cases being liveborn compared with 33% of bilateral MCKD cases. For unilateral MCKD cases, 84% had an isolated renal anomaly compared with 51% of bilateral MCKD cases ( p < 0.001). Conclusions Cases with unilateral MCKD are mainly liveborn, and only 16% have associated major malformations or a syndrome. Cases with bilateral MCKD are often associated with nonrenal major congenital anomalies or part of a syndrome, and only one third of bilateral MCKD cases in this study were liveborn. Prenatal detection rate of MCKD was high for both unilateral and bilateral cases. © 2014 John Wiley & Sons, Ltd.