As a mother-to-be, you may be looking forward to your baby coming into the world healthy. However, sometimes unexpected health problems can arise. Today, we are going to talk about a very serious birth defect that many people have not even heard of. This is called Anencephaly. It is very important to be aware of this.
What exactly is Anencephaly?
Simply put, anencephaly is a condition in which a baby is born without the proper development of parts of the brain and skull. This is a very rare and very serious condition.
Let's understand this a little more. When you are pregnant, during the first few weeks, your baby's brain and spinal cord begin to form as a flat disc of cells. Think of it like rolling a flat leaf into a tube, and this disc of cells gradually folds and forms a tube-like structure. We call this the neural tube . This neural tube should be completely closed by 28-32 days after conception.
However, if for some reason this neural tube does not close completely, a small opening remains. This is what we call neural tube defects . Anencephaly is one such neural tube defect. In this case, the neural tube remains open at the base of the skull. As a result, the front and upper parts of the brain and related parts of the skull do not develop.
What can cause anencephaly?
It is difficult to pinpoint a single cause for this. A combination of factors may contribute to this. Genetic factors, nutritional deficiencies, and certain things the mother is exposed to during pregnancy are among the main ones.
Let us further explain these risk factors in the table below.
| Risk factor | Description |
|---|---|
| Folic Acid Deficiency | The main cause is not getting enough folic acid before and during pregnancy. This vitamin is essential for the development of the baby's neural tube. |
| Some medications | Some medications used to treat seizures, mental illnesses such as bipolar disorder, and migraines, such as Phenytoin, Carbamazepine, and Valproic acid , may increase the risk. |
| Uncontrolled diabetes | If the mother has diabetes and her blood sugar levels are not properly controlled during pregnancy, it can negatively affect the baby's development. |
| High body temperature | During the early weeks of pregnancy (when the neural tube is forming), it can be dangerous to get a high fever or be in very hot water, such as a hot tub or sauna. |
| Obesity | Excessive maternal weight gain is a factor that can affect the baby's growth during the early stages of pregnancy. |
| Genetic conditions | Anencephaly can also be caused by certain genetic conditions, such as Trisomy 18. However, these are often not inherited, but rather random genetic changes. |
| Opioid drug use | Some studies have shown that children of mothers who used opioid painkillers such as Codeine, Tramadol, and Morphine during the first two months of pregnancy are more likely to have neural tube defects. |
Can this condition be diagnosed during pregnancy?
Yes, absolutely. As part of your prenatal care, your doctor will do several tests to check for these types of neural tube defects.
- Ultrasound Scan: This is the main method. The scan allows the doctor to see the structure of the baby's skull, brain, and spinal cord. Anencephaly can usually be clearly identified on a scan.
- Quad Marker Screen Blood Test: This is a test done on the mother's blood. It measures the level of a chemical called Alpha-fetoprotein (AFP) in the mother's blood. AFP is produced by the baby's liver. If the AFP level in the mother's blood is unusually high, it may indicate that the baby may have a neural tube defect (such as anencephaly).
- Fetal MRI scan: If something is unclear from the ultrasound scan, an MRI scan can be done to get clearer, more detailed images of the baby's brain and spinal cord .
- Amniocentesis: In this test, the doctor uses a very fine needle to take a small sample of the amniotic fluid surrounding the baby. This fluid is tested for elevated levels of an enzyme called AFP and acetylcholinesterase. High levels of these are also a sign of a neural tube defect.
Is there a treatment for this?
This is the saddest part of this topic.
Unfortunately, there is no treatment or cure for anencephaly.
This is a very difficult thing to bear. Many pregnancies with neural tube defects end in miscarriage. Some babies with anencephaly are born as stillborns. Even if the baby is somehow born alive, its life is limited to a few hours or days.
If this situation is identified, your doctor and hospital staff will provide you and your family with the necessary emotional support. Once the baby is born, they will provide the necessary facilities to spend as much time with the baby as possible during that short period of time.
What can we do to reduce the risk?
While anencephaly cannot be prevented 100% of the time, there are several things we can do to significantly reduce the risk. This is especially important for women planning to start a family.
- Folic Acid: This is the most important thing. If you are planning to have a baby , start taking 400 micrograms (400 mcg) of folic acid daily for at least 3 months before conception. You should continue taking it for the first 3 months after conception. Your doctor will recommend the exact dosage for you.
- Be careful with medications: If you're planning to have a baby, talk to your doctor about any medications you're currently taking (especially for conditions like epilepsy or mental illness). He or she can recommend safer alternatives if necessary.
- Avoid opioid painkillers: If you think you may be pregnant or are pregnant, avoid taking opioid painkillers without your doctor's advice.
- Control your body temperature: Avoid going to hot tubs and saunas during early pregnancy. If you develop a fever, consult your doctor about how to safely reduce the fever.
- Maintain a healthy weight: Try to maintain a healthy body weight even before having a baby.
- Manage diabetes: If you have diabetes, talk to your doctor about how to best manage it before you get pregnant and throughout your pregnancy.
Take-Home Message
- Anencephaly is a very serious, fatal birth defect in which a baby's brain and skull do not develop properly.
- There is no treatment for this condition.
- If you are planning to have a child, it is very important to take folic acid several months before conception. This can significantly reduce the risk of neural tube defects.
- Talk to your doctor about any medications you are taking and medical conditions such as diabetes before conceiving a child.
- Scans during pregnancy can detect these conditions early. So never skip the clinic.
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