title: Epidemiology of partial urorectal septum malformation sequence (or 'persistent cloaca'): a population-based study in seven regions of England and Wales, 1985-2010.
abstract: 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.
authors.affiliation: Institute of Health & Society, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Peter W G
authors.initials: PW
authors.lastname: Tennant
authors.affiliation: Institute of Health & Society, Newcastle University, Newcastle upon Tyne, UK.
authors.forename: Svetlana V
authors.initials: SV
authors.lastname: Glinianaia
authors.affiliation: Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
authors.forename: Diana
authors.initials: D
authors.lastname: Wellesley
authors.affiliation: Department of Health Sciences, University of Leicester, Leicester, UK.
authors.forename: Elizabeth S
authors.initials: ES
authors.lastname: Draper
authors.affiliation: National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
authors.forename: Jenny J
authors.initials: JJ
authors.lastname: Kurinczuk
authors.affiliation: West Midlands Congenital Anomaly Register, Public Health England, Birmingham, UK.
authors.forename: Ann M
authors.initials: AM
authors.lastname: Tonks
authors.affiliation: Congenital Anomaly Register and Information Service for Wales, Public Health Wales, Swansea, UK.
authors.forename: David F
authors.initials: DF
authors.lastname: Tucker
authors.affiliation: School of Clinical Sciences, Bristol University, Bristol, UK.
authors.forename: Ben
authors.initials: B
authors.lastname: Wreyford
authors.affiliation: Institute of Health & Society, Newcastle University, Newcastle upon Tyne, UK Regional Maternity Survey Office, Public Health England, Newcastle upon Tyne, UK.
authors.forename: Judith
authors.initials: J
authors.lastname: Rankin
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology*; D001003:Anal Canal / Q000002:abnormalities*; D002988:Cloaca / Q000002:abnormalities*; D004739:England / Q000453:epidemiology; D005260:Female; D046689:Fetal Mortality; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007226:Infant Mortality; D007231:Infant, Newborn; D053208:Kaplan-Meier Estimate; D008297:Male; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000453:epidemiology; D015995:Prevalence; D012042:Registries; D014521:Urethra / Q000002:abnormalities*; D014852:Wales / Q000453:epidemiology
keywords: Congenital Abnorm; Epidemiology