title: Cloacal exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research.
abstract: Cloacal exstrophy presents as a complex abdominal wall defect thought to result from a mesodermal abnormality. Anatomically, its main components are Omphalocele, bladder Exstrophy and Imperforate anus. Other associated malformations include renal malformations and Spine defects (OEIS complex). Historically, the prevalence ranges from 1 in 200,000 to 400,000 births, with higher rates in females. Cloacal exstrophy is likely etiologically heterogeneous as suggested by its recurrence in families and occurrence in monozygotic twins. The defect has been described in infants with limb-body wall, with trisomy 18, and in one pregnancy exposed to Dilantin and diazepam. Due to its rarity, the use of a nonspecific diagnostic code for case identification, and lack of validation of the clinical findings, cloacal exstrophy remains an epidemiologic challenge. The purpose of this study was to describe the prevalence, associated anomalies and maternal characteristics among infants born with cloacal exstrophy. We used data from the International Clearinghouse for Birth Defects Surveillance and Research submitted from 18 birth defect surveillance programs representing 24 countries. Cases were clinically evaluated locally and reviewed centrally by two authors. Cases of persistent cloaca were excluded. A total of 186 cases of cloacal exstrophy were identified. Overall prevalence was 1 in 131,579 births: ranging from 1 in 44,444 births in Wales to 1 in 269,464 births in South America. Live birth prevalence was 1 in 184,195 births. Prevalence ratios did not vary by maternal age. Forty-two (22.6%) cases met the criteria for the OEIS complex, whereas 60 (32.3%) were classified as OEI and 18 (9.7%) as EIS (one with suspected VATER (0.5%)). Other findings included two cases with trisomy 13 (one without a karyotype confirmation), one with mosaic trisomy 12 (0.5%), one with mosaic 45,X (0.5%) and one classified as having amnion band sequence (0.5%). Twenty-seven (14.5%) infants had other anomalies unrelated to cloacal exstrophy. Cloacal exstrophy is a rare anomaly with variability in prevalence by geographic location. The proportion of cases classified as OEIS complex was lower in this study than previously reported. Among all cases, 54.8% were reported to have an omphalocele.
authors: Division of Medical Genetics, Department of Pediatrics, University of Utah Health School of Medicine, Salt Lake City, USA. marcia.feldkamp@hsc.utah.edu
authors: Marcia L
authors: ML
authors: Feldkamp
authors: Lorenzo D
authors: LD
authors: Botto
authors: Emmanuelle
authors: E
authors: Amar
authors: Marian K
authors: MK
authors: Bakker
authors: Eva
authors: E
authors: Bermejo-Sánchez
authors: Sebastiano
authors: S
authors: Bianca
authors: Mark A
authors: MA
authors: Canfield
authors: Eduardo E
authors: EE
authors: Castilla
authors: Maurizio
authors: M
authors: Clementi
authors: Melinda
authors: M
authors: Csaky-Szunyogh
authors: Emanuele
authors: E
authors: Leoncini
authors: Zhu
authors: Z
authors: Li
authors: R Brian
authors: RB
authors: Lowry
authors: Pierpaolo
authors: P
authors: Mastroiacovo
authors: Paul
authors: P
authors: Merlob
authors: Margery
authors: M
authors: Morgan
authors: Osvaldo M
authors: OM
authors: Mutchinick
authors: Anke
authors: A
authors: Rissmann
authors: Annukka
authors: A
authors: Ritvanen
authors: Csaba
authors: C
authors: Siffel
authors: John C
authors: JC
authors: Carey
mesh_terms: D000293:Adolescent; D000328:Adult; D000569:Americas / Q000453:epidemiology; D001315:Australia / Q000453:epidemiology; D035843:Biomedical Research / Q000639:trends; D002681:China / Q000453:epidemiology; D002988:Cloaca / Q000002:abnormalities*; D000013:Congenital Abnormalities / Q000453:epidemiology* / Q000473:pathology*; D016021:Epidemiologic Studies; D005060:Europe / Q000453:epidemiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007391:International Cooperation; D008297:Male; D008875:Middle Aged; D011159:Population Surveillance / Q000379:methods*; D011247:Pregnancy; D015995:Prevalence; D012042:Registries; D055815:Young Adult