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Updated: Jul 19, 2026

Anogenital Distance and Perineal Measurements of the Pelvic Organ Prolapse (POP) Quantification System
Published on: September 20, 2018
Imperforate anus: A relatively common anomaly rarely diagnosed prenatally
A Brantberg1, H-G K Blaas, S E Haugen
1National Center for Fetal Medicine, Department of Obstetrics and Gynecology, St Olav's Hospital, Trondheim University Hospital, Norwegian University of Science and Technology, Trondheim, Norway. anne.brantberg@ntnu.no
Prenatal diagnosis of imperforate anus is rare, with only 15.9% detected prenatally. Improving detection rates is crucial, especially when associated anomalies are present, to enhance counseling and postnatal care.
Area of Science:
- Medical diagnostics
- Fetal medicine
- Pediatric surgery
Background:
- Imperforate anus is a congenital condition with significant implications for infant health.
- Prenatal diagnosis of imperforate anus remains challenging, despite its relatively common occurrence.
Purpose of the Study:
- To investigate the prevalence and diagnostic accuracy of prenatal ultrasound for imperforate anus.
- To identify strategies for improving the prenatal detection rate of imperforate anus.
Main Methods:
- Retrospective analysis of fetal and infant cases with imperforate anus examined prenatally via ultrasound.
- Evaluation of ultrasound findings and associated anomalies.
- Retrospective review of cases where prenatal diagnosis was missed.
Main Results:
- Only 15.9% of imperforate anus cases were diagnosed prenatally.
- Rectal or lower bowel dilatations were observed in all prenatally diagnosed cases.
- Associated anomalies, particularly urogenital, were present in 85.5% of cases; 13.0% had abnormal karyotypes.
- Retrospective review suggested potential for diagnosis in 50% of cases missed prenatally.
- Survival rates were higher for isolated imperforate anus or those with a single associated anomaly.
Conclusions:
- The prenatal detection rate for imperforate anus is low (15.9%).
- Imperforate anus frequently co-occurs with other anomalies (85.5%), highlighting the need for thorough examination.
- Enhanced prenatal detection can improve counseling and optimize postnatal management strategies.
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