Risk factors for congenital malformations of the rectum (anorectal malformations)

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Congenital anorectal malformations represent an enormous challenge in the medical care of patients and their families with lifelong physical and psychosocial problems. Although surgical correction begins within the first days of life, serious functional impairments like stool incontinence and/or cosmetically impairments in the area of the external genitals and anorectum often occur. Consequently, quality of life of all family members is substantially impaired. It is estimated that approximately 25 000 people live with a congenital anorectal malforma-tion in Germany. Regardless of the birth prevalence described in the literature, the preva-lence of newborns has been increased over the last years in Germany. Current knowl-edge about the causes, however, is still sparse. Aim of a multicenter case-control study is to estimate the significance of potential risk factors quantitatively. The focus is on the fol-lowing potential risk factors: maternal obesity, maternal diabetes mellitus and types of as-sisted reproductive techniques with its related causes of subfertility.In total, 540 cases should be recruited as part of a nationwide register, established by the applicant. Furthermore, 1620 healthy controls should be recruited through a nationwide network of cooperating birth clinics. Using a standardized questionnaire and medical documents, possible risk factors and confounders should be collected and validated. The influence of potential risk factors, which is independent of confounders, is estimated using multivariable logistic regression.