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Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions

Lookup NU author(s): Professor Judith Rankin


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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 13371 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 (OR1.6, 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 (OR3.9, 95%CI 1.3-11.6; OR3.4, 95%CI 1.6-7.1, respectively), whereas maternal epilepsy during pregnancy resulted in a five-fold elevated risk of all manifestations of ARM (OR5.1, 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.

Publication metadata

Author(s): Wijers CHW, van Rooij IALM, Bakker MK, Marcelis CLM, Addor MC, Barisic I, Beres J, Bianca S, Bianchi F, Calzolari E, Greenlees R, Lelong N, Latos-Bielenska A, Dias CM, McDonnell R, Mullaney C, Nelen V, O'Mahony M, Queisser-Luft A, Rankin J, Zymak-Zakutnia N, de Blaauw I, Roeleveld N, de Walle HEK

Publication type: Article

Publication status: Published

Journal: BJOG: An International Journal of Obstetrics and Gynaecology

Year: 2013

Volume: 120

Issue: 9

Pages: 1066-1074

Print publication date: 10/04/2013

ISSN (print): 1470-0328

ISSN (electronic): 1471-0528

Publisher: Wiley-Blackwell Publishing Ltd.


DOI: 10.1111/1471-0528.12235


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Funder referenceFunder name
Radboud University Nijmegen Medical Centre
2010 22 04EU