Referral for Dilated Fetal Rectum: Rarely a Pathologic Entity

Dilated colon or rectum on fetal imaging raises concern for underlying anorectal malformation (ARM) or Hirschsprung's disease (HD).

We evaluated pregnant women referred to a dedicated fetal center between 2006 and 2024 for suspected fetal rectal/colonic dilation. Findings by ultrasound and magnetic resonance imaging were compared to neonatal outcomes. Those with a statistically significant association with postnatal distal bowel abnormality were identified by univariate analysis and used to formulate a risk score.

A total of 18/47 (38.2%) patients had normal imaging. A total of 29/47 (61.7%) demonstrated persistent "prominence" (15/29) or "dilation" (14/29) of the fetal colon/rectum. Seven male fetuses with large bowel dilation/prominence were diagnosed postnatally with an imperforate anus. None had HD. Compared to the no-ARM group, ARM patients were more likely to have earlier initial referral imaging; imaging noting persistent bowel dilation/prominence; imaging with an abnormal amniotic fluid level, meconium signal, bowel echogenicity, or anal sphincter; enterolithiasis; or concern for VACTERL (all p ≤ 0.035). These 8 variables were used to create a risk score to diagnose ARM with 100% sensitivity and specificity in our cohort.

Fetal imaging showing a dilated colon/rectum is rarely pathologic. When targeted imaging does not reveal any features predictive of pathology, reassurance may be provided to families and providers.