Co-occurring non-urinary congenital anomalies among cases with congenital anomalies of the kidney and urinary tract.

Cases with congenital anomalies of kidney and urinary tract (CAKUT) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CAKUT in a well-characterized population from northeastern France. The associated anomalies in CAKUT were collected in all live births, stillbirths and terminations of pregnancy during 29 years in 387,067 consecutive births of known outcome in the area covered by our population-based registry of congenital anomalies. Of the 1946 cases with CAKUT born during this period (prevalence at birth of 50.3 per 10,000), 653 (33.6%) had associated anomalies. There were 138 (7.1%) patients with chromosomal abnormalities including 39 trisomy 18 (2%), and 195 (10%) syndromic conditions including VA(C)TER(L) association (3.3%), Meckel-Gruber syndrome (2.1%), and prune belly syndrome (1.4%). Three hundred twenty (16.4%) of the cases had multiple congenital anomalies (MCA). Anomalies in the musculoskeletal, the digestive, the cardiovascular and the central nervous systems were the most common other non urinary anomalies. Prenatal diagnosis was obtained in 71.5% of the cases with CAKUT. In conclusion the overall prevalence of associated anomalies, which was one out of three cases, emphasizes the need for a thorough investigation of cases with CAKUT. A routine screening for other non urinary anomalies may be considered in cases with CAKUT. One should be aware that the non urinary anomalies associated with CAKUT can be classified into a recognizable anomaly syndrome or pattern in one out of six cases with CAKUT.