Isolated anorectal atresia diagnosed in the first trimester – case report

Abstract

Anorectal atresia (ARA) is a congenital anomaly with an incidence of 1:1500 to 1:5000 in newborns. This mal­for­ma­tion can be isolated, but is often associated with multiple con­ge­ni­tal anomalies. Until recently, the diagnosis was often made in the third trimester of pregnancy or even after birth but, according to a review, it was established that pre­na­tal diagnosis can be made even in the first trimester. Early diagnosis is essential for the management and planning of birth and postpartum treatment. We present the case of a fetus diagnosed with ARA at 12+0 weeks at the first-tri­mes­ter ultrasound anomalies scan. The karyotype was per­formed and the result was normal. ARA was diagnosed and considered isolated since further detailed examinations per­formed in the second and third trimesters found no other anomalies. After birth, at 36 weeks, the diagnosis was con­firmed as low anorectal atresia with perineal fistula. The new­born was scheduled for surgery at 3 months of life.