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*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

20 Citations (Scopus)


ObjectivesThe aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD).

MethodsThe 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 1458552 births.

ResultsThere were 601 MCKD cases giving an overall prevalence of 4.12 per 10000 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

ConclusionsCases 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. (c) 2014 John Wiley & Sons, Ltd.

Original languageEnglish
Pages (from-to)1093-1098
Number of pages6
JournalPrenatal Diagnosis
Issue number11
Publication statusPublished - Nov-2014



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