ABSTRACT
BACKGROUND: Unilateral renal agenesis is a rare finding. There are no large-scale studies reporting this finding in early pregnancy. OBJECTIVES: To evaluate the incidence of unilateral renal agenesis (URA) and of associated anomalies diagnosed by early prenatal trans-vaginal sonography. METHODS: We performed a retrospective chart review of all 59,382 trans-vaginal scans performed at 14-16 weeks gestation by a single operator at different clinics during the period 1994-2013. RESULTS: The incidence of URA was 1:1212 (49/59382 cases). Associated anomalies were diagnosed in 22 cases (45%). Renal anomalies were diagnosed in 22.4%. Extra-renal anomalies (with exclusion of a single umbilical artery or nuchal edema as isolated findings) were diagnosed in 24.5%. Ambiguous genitalia were diagnosed in 8.2%. CONCLUSIONS: URA is a rare finding in early trans-vaginal sonography. Associated anomalies are very common and should be sought.
Subject(s)
Solitary Kidney/diagnostic imaging , Solitary Kidney/embryology , Ultrasonography, Prenatal/methods , Adult , Female , Humans , Kidney/diagnostic imaging , Kidney/embryology , Male , PregnancyABSTRACT
BackgroundThe objective of our study was to examine the risk for submicroscopic chromosomal aberrations among fetuses with apparently isolated solitary kidney.MethodsData acquisition was performed retrospectively by searching Israeli Ministry of Health-computerized database. All cases having chromosomal microarray analysis (CMA), referred because of an indication of isolated unilateral kidney agenesis between January 2013 and September 2016, were included. Rate of clinically significant CMA findings in these pregnancies was compared to pregnancies with normal ultrasound, based on a systematic review encompassing 9,792 cases and local data of 5,541 pregnancies undergoing CMA because of maternal request.ResultsOf the 81 pregnancies with isolated solitary kidney, 2 (2.47%) loss-of-copy number variants compatible with well-described deletion syndromes were reported (16p11.2-16p12.2 and 22q11.21 microdeletion syndromes). In addition, one variant of unknown significance was demonstrated. The relative risk for pathogenic CMA findings among pregnancies with isolated unilateral renal agenesis was not significantly different compared with the control population.ConclusionCMA analysis in pregnancies with unilateral renal agenesis might still be useful, to the same degree as it can be in the general population.