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.

ESPR uroradiology task force imaging recommendations in paediatric uroradiology, part VII: standardised terminology, impact of existing recommendations, and update on contrast-enhanced ultrasound of the paediatric urogenital tract

“…The presented projects include (1) an effort to harmonise and standardise terminology in paediatric uroradiology, to avoid potentially misleading and unsafe perceptions and communications, (2) to update information on contrast-enhanced US in the paediatric genitourinary tract and (3) to try to assess whether all these efforts have an impact on daily imaging on a larger scale.…”

Cloacal exstrophy associated with gastroschisis: Case report of a rare association with favorable outcome

“…Cloacal exstrophy has a varied incidence according to geographic location and is associated with several anomalies. Its incidence also increases when presented as a component of such conditions as imperforate anus, omphalocele, and spina bifida [4,7].…”

“…Through obstetric ultrasound, studies in animals have shown that these abdominal wall defects occur in the early stages of pregnancy and compromise the results of embryo formation and development [1,2,4,5].…”

“…Cloacal exstrophy, first described by Littre in 1709 [4], is one of the most serious and complex congenital anomalies that is compatible with life. It is characterized by the failure to closure the lower urinary tract and commonly results from an abnormality in the development of the mesoderm.…”

Complex Abdominal Wall Defects: Appearances at Prenatal Imaging

“…Cloacal exstrophy is a rare but serious congenital abnormality that has an estimated prevalence of one case per 200,000-400,000 live births, with higher rates among females (36). Similar to bladder exstrophy, cloacal exstrophy involves a low AWD, absence of a visible bladder, and exstrophy of all the structures that form the cloaca (ie, rectum, bladder, and lower genitourinary tract).…”