Can anorectal atresia be diagnosed in the first trimester of pregnancy? A systematic literature review

Abstract

Anorectal atresia (ARA) is a common congenital anomaly, but prenatal diagnosis is difficult, late, and unspecific. Utilizing a case of a 46 year old primipara with an egg donation In Vitro Fertilization (IVF) pregnancy, diagnosed at the first trimester scan with an anechoic isolated structure, which indicates anal atresia, we performed a systematic literature review in order to evaluate early prenatal ARA diagnosis. A total of 16 cases were reported as first trimester ARA suspicion, and only three had no associated anomalies. The most frequent ultrasound (US) sign was the presence of a cystic, anechoic pelvic structure of mainly tubular shape, or a plain abdominal cyst. In the majority of cases, structures were thin-walled and delimitated from the bladder. The presence of hyperechoic spots signifying enterolithiasis and peristaltic movements were helpful in order to establish the bowel origin of the lesion. Considering the high eventuality that the lesion is transitory, meaning later in pregnancy the fetus looks normal, early detection of such a sign should prompt further structural detailed evaluation, karyotyping, and appropriate pregnancy and postnatal counselling.