Anencephaly is a condition wherein the child is born with a poorly developed skull, scalp, and brain. Babies with anencephaly usually only survive for a few hours or days after birth since a portion of the fetal skull and brain are missing. It is one of the neural tube defects (NTDs) that develop very early in pregnancy; however, it does not seem to be hereditary. Read on below to learn various vital details about anencephaly.

How common is anencephaly?
This condition usually affects baby girls more than baby boys. It has been found that around one in 5,000 to 10,000 children is born with this fatal birth defect. There are more chances of having stillbirths or miscarriages if the developing fetus has anencephaly.

Symptoms and signs
The most common sign of this condition is the missing portions of the skull. These parts are usually the bones in the head’s back, front, or sides. Some bones are also poorly formed and the brain does not develop to its full capacity. Some other signs and symptoms of anencephaly are the following:

Poor reflexes
Folding of the ears
Cleft palate
Heart defects, which are found in some infants

Causes
The exact cause of this condition is not known. However, it does not seem to be inherited, and in most cases, it occurs without any family history of the disease. But if anyone has a child with neural tube defects (NTDs), there is an increased risk of conceiving another baby with this condition. A combination of nutrition, genes, and environmental factors is thought to be responsible for anencephaly.

Certain risk factors that lead to anencephaly are the following:

Lack of folic acid
During pregnancy, the lack of folic acid or Vitamin B9 in the mother’s body may lead to anencephaly.
High body temperature
During the early stages of pregnancy, if one is exposed to a high temperature in the sauna or hot tub or contracts a fever, there is an increased chance that the fetus develops this condition.
Unmanaged diabetes
Unmitigated diabetes is also thought to be responsible for this condition. When the mother’s blood glucose is too high, it may harm fetal growth and development.
Treatments for other conditions
Certain treatments for seizures, migraine, or bipolar disorder also leads to anencephaly.

Diagnosis
The healthcare provider may analyze the child’s appearance at birth to diagnose this condition. Also, they may suggest the following prenatal tests to check for it:

Ultrasound
The healthcare provider will look at the fetal spine, skull, and brain with the help of the ultrasound scan. It is an imaging test that produces fetal images using sound waves.
Quad Marker Screen
The Quad Marker Screen is a blood test that checks for genetic disorders and neural tube defects. The Alfa-fetoprotein (AFP) is examined in this test, and usually, a higher level of this protein is present in children with this condition. The fetal liver produces the AFP, and if there is anencephaly, it leaks into the pregnant women’s blood.
MRI
Fetal Magnetic Resonance Imaging, or MRI, is used to look at the brain and spine in more detail.
Amniocentesis
Here, a thin needle is inserted into the amniotic sac, and some fluid is withdrawn from it. This amniotic fluid is then checked for AFP levels and acetylcholinesterase, an enzyme. The presence of any of these substances indicates NTD.

Treatment, management, and prevention
At present, there is no treatment that can cure anencephaly. However, certain measures may be followed to reduce the risks of this fatal condition, which may be detailed below:

Having plenty of folic acid
As mentioned earlier, lacking folic acid during pregnancy may lead to NTDs. Thus, it is always best to take plenty of folic acids.
Avoiding specific treatments
The treatments for seizures may cause neural tube defects. So, talk to a healthcare provider about them before you get pregnant.
Avoiding hot tubs and saunas
It is best to avoid hot tubs and saunas as they may raise the body temperature. When suffering from fever during early pregnancy, consult the healthcare provider immediately.
Managing overall health
It is vital for the pregnant woman to keep an eye on blood sugar and BMI levels. It is crucial to consult a healthcare specialist and opt for treatments and lifestyle changes accordingly if required.

NTDs like anencephaly cannot be prevented. But the precautionary measures mentioned above may help in reducing the risks. Connect with your healthcare provider and prepare the questions in advance for which you are seeking answers. Keep the instructions and orders in mind from the physician and follow them strictly.