Diagnostic Tests in Hirschsprung Disease: A Systematic Review

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Abstract

Objective:

We conducted a systematic review to determine and compare the diagnostic accuracy of contrast enema (CE), anorectal manometry (ARM) and rectal suction biopsy (RSB) in infants suspected of Hirschsprung disease.

Design:

This is a systematic review.

Data Sources:

Articles were identified through electronic searches in Medline, EMBASE.com and Cochrane Controlled Trials Register. Searches were limited to articles published after 1966 in PubMed and after 1980 in EMBASE.com.

Study Selection:

Studies were included if infants underwent at least one of the following tests: CE, ARM or RSB, followed by full-thickness biopsy and/or clinical follow-up as the reference standard.

Data Extraction:

Two reviewers independently assessed the methods of data collection, patient selection, blinding and prevention of verification bias and description of the test protocol and reference standard. Data to construct 2 × 2 tables were abstracted for each test.

Results:

Twenty-four studies met our inclusion criteria, but 2 studies were subsequently excluded for statistical analysis because data was missing to construct the 2 × 2 table. RSB (14 studies for a total of 993 patients) was the most accurate test, having both the highest mean sensitivity (93%; 95% confidence interval [CI], 88%-95%) and mean specificity (98%; 95% CI, 95%-99%). Sensitivity and specificity of ARM (9 studies for a total of 400 patients) were similar to those of RSB (91% vs 93%, P = 0.73 and 94% vs 98%, P = 0.08, respectively). Sensitivity and specificity of CE (12 studies for a total of 425 patients) were significantly lower than those of RSB and ARM, with mean sensitivity and mean specificity of 70% and 83%, respectively.

Conclusions:

RSB and ARM are the most accurate tests in the diagnostic workup of Hirschsprung disease.

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