Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries

Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries.

Isabelle Perthus (1, 2, 3) , Hélène Laurichesse Delmas (4) , Monique Kohler (5) , Bérénice Doray (6) , Didier Lémery (7) , Christine Francannet (1) , Jocelyn Quistrebert , Cécile Marie (7)

1 Service de Génétique Médicale [CHU Clermont-Ferrand]
2 PEPRADE - Périnatalité, grossesse, Environnement, PRAtiques médicales et DEveloppement
3 CEMC - Centre d'Etude des Malformations Congénitales
4 CHU Clermont-Ferrand
5 Département d'échographie et de Médecine fœtale
6 Service de Génétique
7 IP - Institut Pascal

The different mechanisms leading to a solitary kidney should be differentiated because the long-term outcome might be different. The fetal period is the best moment to make a true diagnosis of congenital unilateral renal agenesis (URA). The objective was to determine the prevalence of URA at birth. The secondary objectives were to describe the evolution of sensitivity of prenatal diagnosis over time and the different forms of URA (isolated and associated with other malformations) detected up to 1 year.

Mots clés: CAKUT; epidemiology; prenatal diagnosis; prevalence; solitary kidney; unilateral renal agenesis

Domaines: Gynécologie et obstétrique; Pédiatrie; Génétique; Médecine humaine et pathologie

Isabelle Perthus, Hélène Laurichesse Delmas, Monique Kohler, Bérénice Doray, Didier Lémery, et al.. Congenital unilateral renal agenesis: Prevalence, prenatal diagnosis, associated anomalies. Data from two birth-defect registries. Birth Defects Research Part A: Clinical and Molecular Teratology, 2017, 109 (15), pp.1204 - 1211. ⟨10.1002/bdr2.1065⟩. ⟨hal-01657910⟩