Anencephaly (Apepsephaly)

Anencephaly (Apepsephaly) is a rare congenital disease that is characterized by partial or complete absence of the bones of the cranial vault and brain. This developmental defect occurs during pregnancy and results in the newborn baby being unable to survive for more than a few hours.

Anencephaly occurs due to incomplete closure of the neural tube in the fetus during the early stages of pregnancy. As a result, the brain does not form correctly and the bones of the skull do not close. The size of the brain with this defect is usually greatly reduced, and the remaining part of the brain is imperfect and unable to perform normal functions.

Anencephaly can be detected by ultrasound in the early stages of pregnancy and, if necessary, further tests can be carried out to confirm the diagnosis. Women who are at risk of having a baby with anencephaly may be offered amniocentesis or an alpha-fetoprotein blood test.

Although anencephaly is a serious condition, some children may be born with a partial defect and even survive for a while. However, because the brain does not form correctly, these children usually cannot breathe on their own and require medical attention.

Other neurodevelopmental defects may also be associated with anencephaly, such as spina bifida. This is because the neural tube is formed during the embryonic period, and some defects can occur in different areas of this tube.

Overall, anencephaly is a serious and progressive condition that has no cure. Women who are planning to become pregnant should seek advice from their doctor to ensure that they are not at risk of developing this disease and for advice on preventive and diagnostic measures if they are at risk.

Anencephaly is a rare genetic disorder that results in the absence of the skull and dura mater. The disease is accompanied by a disruption in the formation of the bones of the face and skull during the development of the fetal brain. As a result, even a baby born with a partially formed face can only live for a few days. Anencephals are often also accompanied by neural tube malformations: this suggests that everything was much worse in the prenatal period. Moreover, the threat to the health of the mother and her child is that some experts suggest that the same genetic mutation can manifest itself in both an adult and an unborn baby. Scientists are now trying to confirm or refute this theory - the risk of this disease is realized only inside the womb of a woman. Unfortunately, it is difficult to predict in advance how much the future baby’s brain function will be preserved outside the embryo. Nevertheless, we can say with certainty what risks a pregnant mother faces when conceiving with such a carrier of the gene.