RT Journal Article
SR Electronic
T1 Epidemiology of partial urorectal septum malformation sequence (or ‘persistent cloaca’): a population-based study in seven regions of England and Wales, 1985–2010
JF Archives of Disease in Childhood - Fetal and Neonatal Edition
JO Arch Dis Child Fetal Neonatal Ed
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP F413
OP F418
DO 10.1136/archdischild-2014-306027
VO 99
IS 5
A1 Peter W G Tennant
A1 Svetlana V Glinianaia
A1 Diana Wellesley
A1 Elizabeth S Draper
A1 Jenny J Kurinczuk
A1 Ann M Tonks
A1 David F Tucker
A1 Ben Wreyford
A1 Judith Rankin
YR 2014
UL http://fn.bmj.com/content/99/5/F413.abstract
AB Background Partial urorectal septum malformation (pURSM) sequence (or ‘persistent cloaca’) is a rare congenital anomaly characterised by a joining of the urethral, anal, and genital openings into a single common channel. This study describes the epidemiology of pURSM sequence in England and Wales including prevalence, additional anomalies, and pregnancy outcomes. Methods All cases of pURSM sequence prospectively notified to seven congenital anomaly registers in England and Wales during 1985–2010, whether delivered as live births, spontaneous fetal deaths (≥20 weeks’ gestation), or elective terminations of pregnancy for fetal anomaly (TOPFA, any gestation), formed this population-based cohort. The risks of spontaneous fetal and infant death were examined by Kaplan–Meier analysis. Differences in prevalence over time, and between regions, were examined by multilevel Poisson regression. Results 117 cases were recorded among 4 251 241 total births. Six (5%) pregnancies resulted in spontaneous fetal deaths, 53 (45%) in TOPFA, and 58 (50%) in live births. The prevalence was 2.8 (95% CI 2.3 to 3.4) per 100 000 total births, increasing significantly over time (p=0.002) and differing significantly between regions (p=0.005). 77 cases (66%) had at least one additional major congenital anomaly outside the perineum, including 67 (57%) renal, 29 (25%) musculoskeletal, 26 (23%) digestive system, and 24 (21%) cardiovascular anomalies. The risks of spontaneous fetal and infant death were estimated as 8.9% (95% CI 4.1 to 18.8) and 26.3% (95% CI 15.1 to 43.4) respectively. Conclusions This is the largest study of the epidemiology of pURSM sequence. The information will be valuable for families and health professionals whenever a case of pURSM sequence is diagnosed.