Currently, there is no known definitive cause for omphaloceles and factors leading to the occurrence of this defect are unclear. [7] Recent studies are looking into causes and risk factors, attempting to find a reason for this malformation, most notably the National Birth Defects Prevention Study in America. This study found that women who gave birth to babies with omphalocele had an increased likelihood to have drunk alcohol during the first trimester of pregnancy and been heavy smokers. [2] They are still researching in an attempt to discover more evidence for causes.
Other studies have found to have different, even contradicting results with few teratogens (any agent that causes abnormal development) found to exhibit a role to play in the malformation. [6] Common factors seem to be mothers who are older and overweight before pregnancy. [6] There is also strong evidence for genetic factors to affect the incidence of omphalocele. [7] Trisomy 13, 18 and 21 are all detectable in many cases indicating chromosomal abnormalities play a part. [6] Overall, it is suggested that omphaloceles result from an intricate combination between genetic and environmental influences. [6] Greater evidence advocates that genetic factors have a superior responsibility for this defect. [6]