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

先天性肛门直肠畸形是对患有终生生理和心理问题的患者及其家人的医疗护理的巨大挑战。虽然手术矫正在出生后的最初几天就开始了，但严重的功能损伤，如大便失禁和/或外生殖器和肛门直肠区域的美容损伤，往往会发生。因此，所有家庭成员的生活质量都受到了严重损害。据估计，德国大约有25000人患有先天性肛门直肠畸形。不管文献中所描述的出生流行率如何，在德国，新生儿的发病率在过去几年里一直在增加。然而，目前对其原因的了解仍然很少。多中心病例对照研究的目的是定量评估潜在危险因素的重要性。重点关注以下潜在危险因素：母体肥胖、母体糖尿病和相关生殖技术类型及其导致不孕症的相关原因。总共540例病例应纳入由申请人建立的全国登记。此外，应通过全国合作的生育诊所网络招募1620名健康对照人员。使用标准化问卷和医疗文件，应收集和验证可能的危险因素和混杂因素。用多变量Logistic回归估计与混杂因素无关的潜在危险因素的影响。

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.