Related Experiment Video
Updated: Jan 27, 2026
Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Should we look for Hirschsprung disease in all children with meconium plug syndrome?
Christie Buonpane1, Timothy B Lautz1, Yue-Yung Hu2
1Division of Pediatric Surgery, Ann & Robert H. Lurie Children's Hospital, Northwestern University Feinberg School of Medicine.
Insights
Meconium plug syndrome (MPS) is linked to Hirschsprung disease (HD). Rectal biopsy use varies significantly between hospitals, impacting early HD diagnosis rates in infants with MPS.
Area of Science:
- Pediatric Surgery
- Neonatology
- Gastroenterology
Background:
- Meconium plug syndrome (MPS) is frequently associated with Hirschsprung disease (HD), occurring in 13-38% of cases.
- Assessing institutional variation in diagnostic practices for MPS is crucial for understanding Hirschsprung disease diagnosis.
- This study investigates the link between MPS and HD, focusing on diagnostic strategies.
Purpose of the Study:
- To evaluate the variability in performing rectal biopsies for infants diagnosed with MPS.
- To determine the correlation between early rectal biopsy utilization and the diagnosis of Hirschsprung disease in this population.
- To identify opportunities for standardizing diagnostic protocols for MPS and HD.
Main Methods:
- Retrospective analysis of newborns with MPS from the Pediatric Health Information System database (2016-2017).
- Calculation of institutional rates of rectal biopsies during initial admission for MPS.
- Poisson regression used to predict early HD diagnosis rates based on biopsy utilization.
- Level of Evidence: Level III (Diagnostic test study).
Main Results:
- Of 373 newborns with MPS, 28.4% underwent early rectal biopsy, with 40.5% of those diagnosed with HD.
- Overall, 15.3% of infants with MPS were diagnosed with HD, and 14% of these had delayed diagnoses.
- Significant institutional variation (0-80%) in early rectal biopsy rates was observed (p=0.03), while HD incidence did not differ significantly (p=0.52).
- Each early rectal biopsy increased the early HD diagnosis rate by 35% (p<0.0001).
Conclusions:
- Hirschsprung disease (HD) incidence is elevated in infants with meconium plug syndrome (MPS).
- There is considerable hospital-level variation in the use of early rectal biopsies for infants with MPS.
- Standardization of diagnostic practices, particularly early rectal biopsy utilization, is warranted to improve timely HD diagnosis in infants with MPS.
Background:
Meconium plug syndrome (MPS) is associated with Hirschsprung disease (HD) in 13-38% of cases. This study sought to assess institutional variation in utilization of rectal biopsy in children with MPS and the likelihood of diagnosing HD in this population.
Methods:
Patients with MPS on contrast enema in the first 30 days of life from the Pediatric Health Information System database in 2016-2017 were included. Institutional rates of rectal biopsies performed during the initial admission were calculated and then used to predict institutional rates of early HD diagnoses using Poisson regression.
Results:
Of 373 newborns with MPS, 106 (28.4%) underwent early rectal biopsy, of whom 43 (40.5%) had HD. Fifty-seven (15.3%) were ultimately diagnosed with HD. Eight (14%) of these patients had a delayed diagnosis. HD rates between institutions did not differ significantly (range 0-50%, p=0.52), but usage of early rectal biopsy did (range 0-80%, p=0.03). Each additional early biopsy increased the early HD diagnosis rate by 35% (β=0.30, 95% CI 0.15-0.45, p<0.0001).
Conclusion:
The incidence of HD is increased in children with MPS. There is significant hospital variability in the utilization of early rectal biopsy, and opportunity exists to standardize practice.
Type Of Study:
Study of Diagnostic test Level of Evidence: Level III.
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