The Prenatal Diagnosis of Cloacal Exstrophy

Abstract

We propose major and minor criteria to assist in the prenatal diagnosis of cloacal exstrophy. Despite these major and minor criteria the certainty of establishing a prenatal diagnosis remains challenging. Persistence of the cloacal membrane beyond the first trimester in 1 patient was an exception to the classic concept of cloacal exstrophy embryogenesis. An accurate prenatal diagnosis requires validation of these criteria by further correlation of prenatal and postnatal observations.

Early Prenatal Diagnosis of Cloacal Exstrophy with Fetal Magnetic Resonance Imaging

“…It is characterized by an infraumbilical anterior wall defect, bladder exstrophy, anorectal atresia, spinal segmentation abnormalities, and pubic diastasis. The reported incidence is 1 in every 200,000-400,000 pregnancies [1][2][3][4][5][6][7][8][9][10] ; however, it might be higher as many cases are diagnosed as omphalocele. The malformation can be diagnosed during pregnancy based on a series of published sonographic criteria [2][3][4] usually distinguishable with ultrasound in the second trimester.…”

“…The reported incidence is 1 in every 200,000-400,000 pregnancies [1][2][3][4][5][6][7][8][9][10] ; however, it might be higher as many cases are diagnosed as omphalocele. The malformation can be diagnosed during pregnancy based on a series of published sonographic criteria [2][3][4] usually distinguishable with ultrasound in the second trimester. Survival and outcome, including quality of life, are different for each malformation; therefore, the correct identification of these conditions is required in order to give the appropriate counseling to the families [1,6,10] .…”

Fetal Abdominal Anomaliler

“…Kloakal ekstrofi oldukça nadir bir anomali olup 250.000 canlı doğumda bir görülür [55]. En sık görülen varyantı OEİS (omfalosel, ekstrofi (mesane), imperfore anüs, spinal anoma- …”

Anogenital malformation with ambiguous genitalia as part of the OEIS complex

“…Austin et al 3 described major criteria for the prenatal diagnosis of cloacal extrophy (non-visualization of the fetal bladder, infra-umbilical abdominal wall defect, omphalocele, myelomeningocele) and minor criteria (lower extremities malformations, renal anomalies, ascites, widened pubic arches, narrow thorax, hydrocephalus, single umbilical artery). Hamada et al 4 described an additional sonographic feature in the prenatal diagnosis of cloacal extrophy, calling it 'the elephant trunk-like image', which represents a prolapsed terminal ileum.…”

“…When associated with ear deformities and vertebral defects, hemifacial microsomia has been denominated oculoauriculovertebral spectrum (OAV Goldenhar syndrome) 1 . The occurrence in association with hemifacial microsomia of branchial, pulmonary, cardiovascular, gastrointestinal, renal, urogenital and skeletal malformations has been described, constituting axial mesodermal dysplasia complex (AMDC) 2,3 . We describe the case of a 34-week-old fetus with OAV Goldenhar syndrome and associated complex congenital heart defects.…”