title: Associated nonurinary congenital anomalies among infants with congenital anomalies of kidney and urinary tract (CAKUT).
abstract: Infants 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 defined population from northeastern France. The associated anomalies in CAKUT were collected in all livebirths, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive births of known outcome in the area covered by our population based registry of congenital anomalies. Of the 1678 infants with CAKUT born during this period (prevalence at birth of 48.4 per 10,000), 563 (34%) had associated anomalies. There were 119 (7%) patients with chromosomal abnormalities including 33 trisomies 18 (2%), and 168 (10%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VA(C)TER(L) association (3%). However, other recognised dysmorphic conditions were registered including Meckel-Gruber syndrome (2%), and prune belly syndrome (1%). Two hundred seventy six (16%) of the patients had multiple congenital anomalies, non syndromic, non chromosomal (MCA). Anomalies in the musculoskeletal, the digestive, the cardiovascular and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 71% of dysmorphic syndromes with CAKUT. In conclusion the overall prevalence of associated anomalies, which was one in three infants, emphasizes the need for a thorough investigation of infants with CAKUT. The most commonly associated major nonurinary anomalies involved the musculoskeletal system, followed by the digestive, the cardiovascular and the central nervous systems. A routine screening for other anomalies may be considered in infants and in fetuses with CAKUT. One should be aware that the anomalies associated with CAKUT can be classified into a recognizable anomaly syndrome or pattern in one out of six infants with CAKUT.
authors.affiliation: Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France. Electronic address: cstoll@unistra.fr.
authors.forename: Claude
authors.initials: C
authors.lastname: Stoll
authors.affiliation: Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France.
authors.forename: Beatrice
authors.initials: B
authors.lastname: Dott
authors.affiliation: Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France.
authors.forename: Yves
authors.initials: Y
authors.lastname: Alembik
authors.affiliation: Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France.
authors.forename: Marie-Paule
authors.initials: MP
authors.lastname: Roth
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology*; D018376:Cardiovascular Abnormalities / Q000453:epidemiology; D002869:Chromosome Aberrations; D004065:Digestive System Abnormalities / Q000453:epidemiology; D005260:Female; D005602:France / Q000453:epidemiology; D006801:Humans; D007223:Infant; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000453:epidemiology; D009421:Nervous System Malformations / Q000453:epidemiology; D015995:Prevalence; D014564:Urogenital Abnormalities; D014718:Vesico-Ureteral Reflux / Q000453:epidemiology*
keywords: Ascertainment; CAKUT; Etiology; Kidney anomalies; Surveillance; Syndromes; Urinary anomalies