Anencephaly

Anencephaly is a congenital anomaly and neural tube defect. Anencephaly presents as the complete or partial absence of the skullcap (cranial vault or calvaria) and the skin that covers it. The brain is present as small mass or entirely missing. Adrenal glands are often missing as well (icd.who.int, 2020). The defect is most often sporadic, thought to be multifactorial and involves interactions of the environment and gene expression although autosomal recessive familial cases have been reported. Generally, children are stillborn but it has happened that some survived for several hours (icd.who.int, 2020).

Risk factors for anencephaly are maternal obesity, zinc- and folate deficiencies (icd.who.int, 2020, EFSA NDA, 2014a). Women at reproductive age are encouraged to supplement folate and in some countries flour is fortified nation-wide to prevent neural tube defects (CDC.gov, 2019).