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Updated: Dec 29, 2025

Anogenital Distance and Perineal Measurements of the Pelvic Organ Prolapse POP Quantification System
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Risk factors associated with anorectal malformations development. A case-control study.

Mohammed A Almatrafi1, Abdulmohsen H Al-Zalabani, Hamdi H Almaramhy

  • 1Saudi Board of Preventive Medicine, Taibah University, Al Madinah Al Munnawarah, Kingdom of Saudi Arabia. E-mail. Aboesam@gmail.com.

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|February 6, 2020
PubMed
Summary

Consanguinity and maternal obesity are significant risk factors for developing anorectal malformations (ARM). This case-control study identified these factors, offering insights into ARM prevention strategies.

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Area of Science:

  • Pediatric Surgery
  • Medical Genetics
  • Public Health

Background:

  • Anorectal malformations (ARM) represent a spectrum of congenital anomalies affecting the terminal portion of the gastrointestinal tract.
  • Identifying modifiable and non-modifiable risk factors is crucial for understanding ARM etiology and developing targeted interventions.
  • Previous research has explored various potential contributors to ARM, but conclusive evidence remains limited in certain populations.

Purpose of the Study:

  • To investigate and determine the specific risk factors associated with the development of anorectal malformations (ARM).
  • To analyze the correlation between consanguinity, maternal obesity, and the incidence of ARM in a Saudi Arabian population.
  • To provide data that can inform public health initiatives and clinical guidance for pregnant individuals.

Main Methods:

  • A case-control study design was employed at the Maternity and Children Hospital (MCH) in Al Madinah Al Munnawarah, Saudi Arabia.
  • Data were collected from 48 ARM cases and 96 controls between January 2013 and December 2017.
  • Interviews using a structured questionnaire and multivariate logistic regression analysis were utilized to identify risk factors.

Main Results:

  • The study identified consanguinity as a significant risk factor for ARM, with an odds ratio (OR) of 2.43 (95% CI: 1.12-5, p=0.025).
  • Maternal obesity (Body Mass Index > 30) was also found to be a strong predictor, showing an OR of 4.36 (95% CI: 1.2-15.8, p=0.025).
  • Of the 48 cases, 31 (64.6%) had isolated ARM and 17 (35.4%) had associated ARM; males constituted 56.3% of cases.

Conclusions:

  • Consanguinity and maternal obesity are confirmed as significant risk factors contributing to the development of anorectal malformations.
  • These findings underscore the importance of preconception counseling regarding obesity and genetic counseling in consanguineous populations.
  • Further research is warranted to explore the underlying biological mechanisms linking these factors to ARM.