Birth Defects: Anencephaly

When a woman visits her gynecologist and is told that she is pregnant, she begins to make many lifestyle adjustments including diet, activities, and adding a multivitamin/folic acid to her daily regimen. While this may or may not decrease her risks of giving birth to a newborn with a birth defect, it will definitely improve her overall wellbeing. Below you will discover everything that you need to know about Anencephaly.


Etiology

One in every 4,859 babies that are born in America will be diagnosed with anencephaly (CBC). This birth defect is characterized by the missing apportionment of the skull and brain. This defect has been noted, as occurring during the embryonic development and develops due to the failure of the neural tube’s rostral (head) to close, as it normally does during the 23rd-26th day after conception. These newborns will not possess the embryotic telencephalon (matures into the cerebrum). This area of the brain contains the cerebral cortex, basal ganglia, hippocampus, and olfactory bulb. These brain structures hold many responsibilities including short and long term memory, voluntary motor movements, learning, eye movements, emotion, cognition (awareness), and sense of smell.

What To Expect

When the baby is born, it will definitely be an emotional time for the mother and father. The infant will immediately be transferred to NICCU, where it will receive direct care from a wide range of pediatric specialists.

Most of these infants do not survive for more than a few hours. In the rare occasion that the infant survives, it will most likely not be aware of its surroundings or sense pain. Blindness and deafness are inevitable.

Pregnancy Diet

The pregnancy diet is very important for the fetus and the mother, as well. Although, the lack of folic acid (type of vitamin B complex) has been linked to the unclosed rostral, it has not been scientifically proven. Most OB/GYNs will prescribe folic acid in a 4 mg/day dose, but if the mother has a history of giving birth to an infant with anencephaly, a higher dose may be prescribed. There are innumerable foods that contain high percentages of folic acid including:

  • Asparagus
  • Beets
  • Broccoli
  • Brussels Sprouts
  • Spinach

These foods should definitely be incorporated in your daily diet and if you have difficulty in developing a diet stratagem, you should consider seeking the advice of a dietician.

Factors

Women that have been diagnosed with insulin dependent diabetes and epilepsy may be at a higher risk, since anticonvulsants (Tegretol, Trileptal, Neurontin) have been linked to this birth defect.

Anencephaly has now been linked to genetic disorders, since the MTHFR gene, which involves vitamin B9 (vitamin folate), the genes that are responsible for processing the folate, and the genes that are responsible for neural tube development. Changes in these genes can potentially be classified as risk factors of anencephaly.

Obesity and over exposure to extremely hot water or stem that is emitted from saunas and hot tubs.

Genetic Testing

A sonogram is traditionally ordered during the second trimester (12-24 weeks), which will determine congenital defects. The AFP (alpha-fetoprotein) diagnostic screening will be ordered to determine, whether or not there is an open neural tube defect. This test is normally completed during the second trimester, as well. AFP is present in the fetal spinal cord and if the protein is higher than normal, this is definitely a genuine sign that the fetus may have anencephaly.

Terminating Pregnancy

While abortions are a debatable issue, many women are opting to go this route to terminate their pregnancy, when they receive a prenatal diagnosis of anencephaly.

Most of these newborns are born in a persistent vegetative state, but brain death must be determined, before the infant will be removed from life support.