Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe

Louise Winding, Maria Loane, Diana Wellesley, Marie-Claude Addor, Larraitz Arriola, Marian K Bakker, Fabrizio Bianchi, Elisa Calzolari, Miriam Gatt, Martin Haeusler, Nathalie Lelong, Carmel Mullaney, Gioacchino Scarano, David Tucker, Awi Wiesel, Ester Garne

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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.

TidsskriftPrenatal Diagnosis
Udgave nummer11
Sider (fra-til)1093-1098
Antal sider6
StatusUdgivet - nov. 2014

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