Neural Tube Defect

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Neural tube defects are birth defects of the brain, spine, or spinal cord. This often occurs during the first month of pregnancy with about 300,000 new cases occuring each year. Two of the most common NTDs include spina bifida and anencephaly. In spina bifida, the fetal spinal column doesn't close completely. There is usually nerve damage that causes at least some paralysis of the legs whereas in anencephaly, most of the brain and skull do not develop. Babies with the latter, are often born stillborn. Babies that do manage to survive the birth however, die shortly after it. 

Contents

Causes of NTD

Concrete scientific evidence suggests that women who are obese, have poorly controlled diabetes, or take certain antiseizure medication are at greater risk than are other women of having an infant with spina bifida or anencephaly. Other suggested causes include genetics, nutrition and environmental factors.

Symptoms and Effects

Mothers do not show signs or symptoms of carrying a NTD affect baby. Tests can be done to test foetuses for NTD during early stages of pregnancy. However, babies with born with NTD have a wide range of effscts from the disease. These include physical and intellectual disability to paralysis, urinary and bowel control problems, blindness, deafness, lack of consciousness, and in many cases, death. Most children with neural tube defects die or experience serious disability.

Diagnosis

Neural tube defects are usually diagnosed before the infant is born, through laboratory or imaging tests. the two most commonly done prenatal tests include the "Triple screen" blood test as well as amniotic fluid test.

“Triple screen” blood test: One part of the triple screen blood test is a test for an elevated level of alpha-fetoprotein (AFP), which is associated with a higher risk of neural tube defects. The AFP test also can be done by itself. The two other parts of the “triple screen” involve testing for human chorionic gonadotropin (hCG) and estriol. This test generally is done during the second trimester.

Amniotic fluid tests: Testing of amniotic fluid may also show a high level of AFP, as well as high levels of acetylcholinesterase; health care providers might conduct this test to confirm high levels of AFP seen in the triple screen blood test. The amniotic fluid also can be tested for chromosomal abnormalities, which might be the cause of the abnormal AFP level. Non-invasive method of detection includes prenatal ultrasound imaging which had the  ability to detect almost all types of neural tube defects.

Cures for NTD

There are no known direct cures for NTD at the moment. However, research studies have found that getting enough folic acid before and during pregnancy can greatly reduce the risk of neural tube defects [1][2][3]

References

  1. Centers for Disease Control and Prevention - http://www.cdc.gov/features/folicacidbenefits/
  2. MedlinePlus -  http://www.nlm.nih.gov/medlineplus/neuraltubedefects.html
  3. Eunice Kennedy Shriver National Institute of Child Health and Human Developement -  http://www.nichd.nih.gov/health/topics/ntds/conditioninfo/pages/causes.aspx
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