Anencephaly is a type of neural tube defect. This disorder hinders the development of the brain and skull bone. This happens when during the first week of pregnancy the neural tube which is responsible for the development of the brain and spinal cord does not close properly. Due to this the brain and spinal cord of the fetus is fully exposed to the amniotic fluid in the uterus and this exposure causes the degeneration of the nervous system.
This defect mostly occurs due to the mutation in the gene on chromosome 1.
Effects of Anencephaly on the baby:
Due to the degradation of the nervous system and problems in the development of the brain, the baby is born with a malfunctioning brain. Usually, the brain formed has an absence of several parts of the brain like the cerebellum and in some cases, even the formation of the proper skull is missing. And this directly affects the ability of the baby to see, hear, think, move, etc. Because of such adverse effects, the newborn baby usually dies within one year of being born.
Who’s at risk?
Usually, this case occurs in people with no history of this disorder in their family.
Test for Anencephaly – In the test the samples are collected and then the samples are used to detect the mutation which is associated with anencephaly by performing PCR amplification for the exons of the MTHFR gene