Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review.

摘要: Congenital anorectal malformations (ARMs) are one of the most frequently observed birth defects digestive system. However, their etiology remains elusive. Therefore, we aim to summarize and critically appraise all existing literature on genetic nongenetic nonsyndromic ARM conclude with unifying hypotheses directions for future research. A structured search English language human studies was conducted in PubMed Embase up October 1, 2013, resulting 112 included articles. Research identification genes underlying is remarkably scarce. Most were focused screening candidate mutations or single-nucleotide polymorphisms, which did not yield any substantial evidence. Nongenetic factors fairly consistently found be associated assisted reproductive techniques, multiple pregnancy, preterm delivery, low weight, maternal overweight obesity, preexisting diabetes. This review provides indications involvement both risk ARM. In studies, large cohorts patients from national international collaborations needed acquire new knowledge through hypothesis-generating approaches. Challenges may also lie investigation gene-gene gene-environment interactions.