Epidemiology of partial urorectal septum malformation sequence (or ‘persistent cloaca’): a population-based study in seven regions of England and Wales, 1985–2010

• Published in: Archives of disease in childhood. Fetal and neonatal edition Vol. 99; no. 5; pp. F413 - F418
• Main Authors: Tennant, Peter W G, Glinianaia, Svetlana V, Wellesley, Diana, Draper, Elizabeth S, Kurinczuk, Jenny J, Tonks, Ann M, Tucker, David F, Wreyford, Ben, Rankin, Judith
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group 01.09.2014; BMJ Publishing Group LTD
• Subjects: Abnormalities, Multiple - epidemiology; Anal Canal - abnormalities; Biological and medical sciences; Births; Cloaca - abnormalities; Collaboration; Data processing; Delivery. Postpartum. Lactation; Digestive system; England - epidemiology; Epidemiology; Female; Fetal Mortality; General aspects; Genitalia - abnormalities; Gynecology. Andrology. Obstetrics; Humans; Infant; Infant Mortality; Infant, Newborn; Infants; Kaplan-Meier Estimate; Laboratories; Male; Maternal, fetal and perinatal monitoring; Medical sciences; Miscellaneous; Population; Population studies; Pregnancy; Pregnancy Outcome - epidemiology; Prevalence; Public health. Hygiene; Public health. Hygiene-occupational medicine; Registries; Surveillance; Urethra - abnormalities; Wales - epidemiology; England; United Kingdom; Great Britain; Europe; Wales; United Kingdom > UK; Urinary system disease; Cloacal persistence; Septum; Sequence; Congenital disease; Epidemiology; Statistical study; Female genital diseases; 1985; Partial; Malformation; Digestive diseases; Region; Public health; Congenital Abnorm
• ISSN: 1359-2998; 1468-2052; 1468-2052
• DOI: 10.1136/archdischild-2014-306027

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.