Diagnostic tests in Hirschsprung disease: a systematic review

Area of Science:

• Pediatric Surgery
• Gastroenterology
• Diagnostic Imaging

Background:

• Hirschsprung disease is a congenital condition affecting the large intestine.
• Accurate diagnosis in infants is crucial for timely intervention.
• Various diagnostic tests exist, including contrast enema (CE), anorectal manometry (ARM), and rectal suction biopsy (RSB).

Purpose of the Study:

• To systematically review and compare the diagnostic accuracy of CE, ARM, and RSB in infants suspected of Hirschsprung disease.
• To identify the most reliable diagnostic tool for this condition.

Main Methods:

• Systematic review of published studies.
• Inclusion of studies with infants undergoing CE, ARM, or RSB, with biopsy or clinical follow-up as reference standard.
• Data extraction for 2x2 tables to calculate sensitivity and specificity.

Main Results:

• Rectal suction biopsy (RSB) demonstrated the highest accuracy, with a mean sensitivity of 93% and specificity of 98%.
• Anorectal manometry (ARM) showed comparable accuracy to RSB (sensitivity 91%, specificity 94%).
• Contrast enema (CE) had significantly lower diagnostic accuracy (sensitivity 70%, specificity 83%).

Conclusions:

• RSB and ARM are the most accurate tests for diagnosing Hirschsprung disease in infants.
• These methods should be prioritized in the diagnostic workup.