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Antenatal diagnosis of the ano-rectal malformations

G. Podevin, L. Hamon, MD. Leclair, C. Camby, Y. Heloury

Department of Pediatric Surgery, HME, CHU Nantes, France



Introduction: Anorectal malformations are still rarely diagnosed before birth in spite of the antenatal imaging improvement in the last years. The goal of this study was to evaluate the type of malformations and the importance of the antenatal associated anomalies, and their correlation with the postnatal results.

Material and methods: We led a retrospective study of the patients followed between January 1994 and December 2008. The data came from the antenatal diagnosis center, the foetopathology studies and the surgical files.

Results: A hundred and three patients (67 boys, 36 girls) were included. In 12 cases, anorectal malformations were detected before birth. There were 9 cloacal malformations (5 with associated malformations) and 3 isolated malformations in boys (2 high and 1 low). The antenatal images were: a hydrocolpos in 7 cases, an enterolithiasis in 5 cases, a dilatation of the rectum in 2 cases, and an isolated perineal anomaly in the case of a low anorectal malformation. Associated malformations were seen in 38 other cases before birth and in 24 cases after birth, meaning a total of 67 patients. Sixty-eight children are alive including all the low anorectal malformations; associated malformations led to 25 pregnancy interruptions (1 cloacal malformation), 3 late miscarriages and 7 deaths after birth, only one of the deaths being related to anorectal malformation.

Conclusion: Apart from the cloacal malformations that are seen by antenatal ultrasounds, the most frequent alarm signs for the anorectal malformations are the associated malformations. The antenatal imaging improvement, with in particular the 3D ultrasounds, should increase in these cases the number of positive diagnoses in the years to come; because now even the low anorectal malformations can be detected.


Key words: anorectal malformation, antenatal diagnosis