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Birth Defects and Hereditary Diseases Topics..

You are here : home > Birth Defects and Hereditary Diseases > Types of Birth Disorders > What are Neural Tube Defects?

What are Neural Tube Defects?


Read on to learn more about neural tube defects, its treatment options and some tips for preventing it.
When a baby begins growing in a mother’s womb, a flat ribbon-like structure develops into the neural tube and this later matures into the baby’s brain and spinal cord. Sometimes, the neural tube does not close completely and this leads to defects that affect the brain and spinal cord of the baby; these are called as neural tube defects.
Often, these defects make their appearance during the first month of pregnancy when the woman is not even aware that she has conceived. Every year, close 300,000 babies are born with neural tube defects.

Common Neural Tube Defects

Neural tube defects can be of two types: open and closed. The closed defects are quite rare compared with the open type of neural tube defects; some of the common ones include:

Spina Bifida

This condition results when the spinal column in the foetus does not close completely. Depending on whether the condition is mild or severe, the baby will be affected to a lesser or greater extent. Spina bifida can be two types: spina bifida cystica and spina bifida occulta. In the former, there is a defect with the meninges, which are the protective layers around the spinal cord. The latter type occurs when some of the spinal bones appear abnormal although there is no damage to the spinal nerves. Spina bifida occulta is not considered harmful and even babies who are otherwise healthy may have this condition.

Anenchephaly

When the brain and skull do not mature in the normal way, it results in anencephaly which literally means “without brain”. Babies with this defect do not have the forebrain which forms the major part of the cerebrum; therefore, most babies with this condition are stillborn and a few die shortly following childbirth.

Chiari Malformation

This is a neural tube defect in which tissue from the brain extends into the canal of the spinal cord. This happens when some part of the skull is abnormal in shape or size and this causes it to press on the brain and push it downwards.

Neural Tube Defects Causes and Who is at Risk

While there is no clear answer to what causes neural tube defects, it is assumed to be due to genetic problems or certain environmental factors such as exposure to lead, pollutants in the air and cigarette smoke. Some risk factors have also been identified. Women who are obese, those on medication for epilepsy and diabetic women whose blood sugar levels are not under control are more likely to have babies with neural tube defects.

Signs and Symptoms of Neural Tube Defects

When the neural tube defect is of a severe type, the baby does not survive beyond the first few months or the first few days of birth. With less severe defects, there will be several disabilities such as vision problems and paralysis or severe difficulty in moving. Some babies will develop seizures and may also have intellectual disability.

Neural Tube Defects Screening and Diagnosis

Screening tests during pregnancy – such an ultrasound scan – can help to identify neural tube defects. Another test called Quad screen can identify the presence of a substance called alpha-fetoprotein (AFP) in the pregnant woman’s blood that indicate she is likely to have baby with a neural tube defect. AFP can also be detected in the amniotic fluid. If these tests point towards a high risk, an in-depth ultrasound scan of the baby’s spine and skull may be recommended by the doctor.

Treatment of Neural Tube Defects

Spina bifida can be treated by surgery once the baby is born; however, there is also a surgery that can be performed when the baby is still in the womb and indeed, this surgery has been found to be more effective. In babies where the surgery does not fully correct the problem, children can grow up with bladder and bowel problems or paralysis of the legs.
There is no treatment for anencephaly and because of the severe nature of this condition, most babies die shortly after birth if at all they survive the full period of gestation.
Chiari malformations can be treated with medication and surgery depending on the severity and specific type of abnormality that is present.

Neural Tube Defects Prevention

Folic acid is a vitamin that is very important for the normal growth of the baby within the womb. Therefore, it is advisable for women who are planning to conceive or those who are pregnant to ensure they get at least 400 micrograms of folic acid every day under the prescription of doctor. In women diagnosed with a high risk of having a baby with neural tube defects, doctors will recommend even higher quantities of this vitamin.
Along with consuming folic acid, it is also important that women planning to conceive take steps to lose weight and control their blood sugar levels if they are diabetic. Couples who belong to families where babies with neural tube defects have been previously born ought to consider a genetic consultation to get a clear picture of their probability of having a healthy baby.

What are the symptoms of neural tube defects in babies? Is it possible to treat neural tube defects? How can pregnant women prevent neural tube defects in their babies? Discuss here.



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