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Screening practices and associated anomalies in infants with anorectal malformations: Results from the Midwest

Peter C Minneci1, Rashmi S Kabre2, Grace Z Mak3

  • 1Department of Pediatric Surgery and the Research Institute, Nationwide Children's Hospital, Columbus, OH.

Journal of Pediatric Surgery
|April 1, 2018
PubMed

Insights

Screening for anomalies in infants with anorectal malformations (ARM) is crucial, as the rate of associated anomalies is high across all subtypes. Standardized screening practices are recommended for all ARM patients.

Area of Science:

  • Pediatric Surgery
  • Medical Genetics
  • Neonatal Care

Background:

  • Anorectal malformations (ARM) are congenital conditions requiring surgical intervention.
  • Associated anomalies frequently occur in infants diagnosed with ARM.
  • Current screening practices for these anomalies vary significantly.

Purpose of the Study:

  • To evaluate current screening practices for associated anomalies in infants with ARM.
  • To determine the incidence of various anomalies based on ARM subtypes.
  • To assess the effectiveness of screening protocols in identifying comorbidities.

Main Methods:

  • A multi-institutional retrospective cohort study was conducted.
  • Data from 506 infants undergoing surgery for ARM between 2007-2011 were analyzed.
  • Screening studies and ARM classifications were reviewed.

Main Results:

  • The most common ARM subtypes included perineal fistula (40.7%).
  • Screening tests were performed in 96.6% of patients, with 11.3% undergoing comprehensive screening.
  • High rates of anomalies were detected across screening categories, including spinal (tethered cord), vertebral (sacral dysplasia), cardiac (patent foramen ovale), renal (hydronephrosis), and limb (absent radius).

Conclusions:

  • Screening practices and anomaly incidence are significantly associated with ARM subtype.
  • A high proportion of ARM patients present with at least one associated anomaly.
  • Routine screening for associated anomalies should be integrated into the standard care for all infants with ARM.
Abstract

Keywords:
Anorectal malformationAssociated anomaliesCongenital malformationsScreening ratesVACTERL

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