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Extrofia cloacal : um desafio do diagnóstico pré-natal
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A extrofia cloacal consiste numa malformação congénita rara com defeito ao nível da parede abdominal infra-umbilical e envolvimento dos sistemas genitourinário e intestinal. É a forma mais grave do espectro extrofia vesical e epispádias, cuja etiologia permanece desconhecida.
Apresenta-se o caso de uma grávida de 32 anos de idade (gesta 3 para 1), com diagnóstico pós-natal de extrofia vesical clássica, em gravidez anterior, referenciada ao Hospital de Santa Maria por suspeita ecográfica, às dezanove semanas e cinco dias, de feto com defeito na parede abdominal anterior.
A ecografia realizada na unidade de ecografia do departamento, às vinte e duas semanas e cinco dias, evidenciou abaulamento da parede abdominal infra-umbilical, onfalocelo e ambiguidade sexual, sem visualização da bexiga, tendo sido admitido diagnóstico pré-natal de extrofia cloacal. Não foram detectadas anomalias genéticas, cariótipo fetal 46 XY. O casal solicitou interrupção médica da gravidez, tendo os achados feto-patológicos sido concordantes com o espectro da extrofia cloacal.
Cloacal exstrophy is a rare congenital malformation with a defect in infraumbilical abdominal wall and involvement of genitourinary and intestinal systems. It is the most severe deformation along the spectrum bladder exstrophy-epispadias complex, and the etiology remains unknown. We report the case of a pregnant 32-year-old (gravida 3, para1), with post-natal diagnosis of classic bladder exstrophy in previous pregnancy, referenced to the Hospital of Santa Maria on suspicion ultrasound, at nineteen weeks and five days of fetus with defect in the anterior abdominal wall. An ultrasound performed on ultrasound unit of the department, at twenty-two weeks and five days, it showed bulging of infraumbilical abdominal wall, omphalocele and sexual ambiguity, without visualization of the bladder and was admitted prenatal diagnosis of cloacal exstrophy. There were no genetic abnormalities, fetal karyotype 46, XY. The couple requested the termination of pregnancy, and fetal-pathological findings were consistent with the cloacal exstrophy spectrum.
Cloacal exstrophy is a rare congenital malformation with a defect in infraumbilical abdominal wall and involvement of genitourinary and intestinal systems. It is the most severe deformation along the spectrum bladder exstrophy-epispadias complex, and the etiology remains unknown. We report the case of a pregnant 32-year-old (gravida 3, para1), with post-natal diagnosis of classic bladder exstrophy in previous pregnancy, referenced to the Hospital of Santa Maria on suspicion ultrasound, at nineteen weeks and five days of fetus with defect in the anterior abdominal wall. An ultrasound performed on ultrasound unit of the department, at twenty-two weeks and five days, it showed bulging of infraumbilical abdominal wall, omphalocele and sexual ambiguity, without visualization of the bladder and was admitted prenatal diagnosis of cloacal exstrophy. There were no genetic abnormalities, fetal karyotype 46, XY. The couple requested the termination of pregnancy, and fetal-pathological findings were consistent with the cloacal exstrophy spectrum.
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Extrofia vesical Gravidez Complicações na gravidez