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Keywords:

  • Anal atresia;
  • birth defects;
  • aetiology;
  • maternal;
  • pregnancy;
  • VACTERL

Objective

To identify pregnancy-related risk factors for different manifestations of congenital anorectal malformations (ARMs).

Design

A population-based case–control study.

Setting

Seventeen EUROCAT (European Surveillance of Congenital Anomalies) registries, 1980–2008.

Population

The study population consisted of 1417 cases with ARM, including 648 cases of isolated ARM, 601 cases of ARM with additional congenital anomalies, and 168 cases of ARM-VACTERL (vertebral, anal, cardiac, tracheo-esophageal, renal, and limb defects), along with 13 371 controls with recognised syndromes or chromosomal abnormalities.

Methods

Multiple logistic regression analyses were used to calculate adjusted odds ratios (ORs) for potential risk factors for ARM, such as fertility treatment, multiple pregnancy, primiparity, maternal illnesses during pregnancy, and pregnancy-related complications.

Main outcome measures

Adjusted ORs for pregnancy-related risk factors for ARM.

Results

The ARM cases were more likely to be firstborn than the controls (OR 1.6, 95% CI 1.4–1.8). Fertility treatment and being one of twins or triplets seemed to increase the risk of ARM in cases with additional congenital anomalies or VACTERL (ORs ranging from 1.6 to 2.5). Maternal fever during pregnancy and pre-eclampsia were only associated with ARM when additional congenital anomalies were present (OR 3.9, 95% CI 1.3–11.6; OR 3.4, 95% CI 1.6–7.1, respectively), whereas maternal epilepsy during pregnancy resulted in a five-fold elevated risk of all manifestations of ARM (OR 5.1, 95% CI 1.7–15.6).

Conclusions

This large European study identified maternal epilepsy, fertility treatment, multiple pregnancy, primiparity, pre-eclampsia, and maternal fever during pregnancy as potential risk factors primarily for complex manifestations of ARM with additional congenital anomalies and VACTERL.