Neural Tube Defects- Anencephaly:

Anencephaly is a condition in which the top of the neural tube hasn’t closed completely (Cranial Neural Tube Defect), causing the baby to be born without parts of the brain or skull. This usually arises between the 23rd and 26th day of pregnancy. It is a lethal condition and sadly it means that the baby usually only lives for a few days, and in the case of Hope Lee, only 74 minutes. She was born last week and became the UK’s youngest organ donor. Her parents found out that she had anencephaly in the 13th week of pregnancy and knew that she wouldn’t have a long life span but they didn’t want to terminate the pregnancy. They agreed to Hope’s kidneys being made available for transplant.

Centers for Disease Control and Prevention (CDC) researchers found that lack of folic acid could be a cause of anencephaly, and Perinatal Institute say that there are “reported associations with maternal insulin dependent diabetes, hyperthermia and obesity”.

There are two screening methods used in the UK- Maternal Serum AFP (Alpha-Fetoprotein) and Ultrasound (usually offered at 18-20 weeks). 

AFP serum screening looks at the AFP levels in the mother’s blood and is usually done at 16-20 weeks of pregnancy. It is thought to be more than 90% sensitive for Anencephaly and is especially recommended for women with a family history of birth defects, are 35 or older, who used possibly harmful medications/drugs during pregnancy or who have diabetes. AFP is found both in foetal serum and amniotic fluid. It’s a protein which is produced during the early stages of pregnancy by the foetal yolk sac and in the liver and gastrointestinal tract. We don’t really know what AFP does though…but we do know that it’s levels increase and decrease and different weeks of pregnancy. High levels of AFP may suggest that the baby has a Neural Tube Defect or could also suggest defects with the oesophagus or a failure of the baby’s abdomen to close, but most commonly, the reason for higher AFP levels is due to inaccurate dating of the pregnancy. Low levels of AFP and abnormal levels of hCG (human chorionic gonadotropin (hormone)) and estriol could be an indication of the baby having a chromosome abnormality such as Down Syndrome or Edwards Syndrome.

At the moment there is no cure for Anencephaly, so treatment is symptomatic rather than curative.

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