Neural tube defects are a group of birth defects which include open spina bifida and anencephaly. One or two babies out of every 1000 is born with a neural tube defect.
Open spin bifida is an incomplete closure of the spine. It varies in severity depending on where on the spine it’s located, and how big the opening is. Open spina bifida usually causes paralysis from waist down and interferes with bowel and bladder control.The level of AFP in the mother’s serum tends to be elevated when there is a pregnancy affected by an open neural tube defect. Closed neural tube defects (when the spinal opening is covered with skin or thick tissue) will not be picked up by AFP testing.
What happens if a birth defect is discovered through the AFP test?
Your doctor and/or genetic counselor will be available to discuss your baby’s diagnosis in detail and options available to you. Considering other options like adoption or termination of pregnancy will be discussed with you. A “screen negative” result means that your risk for a child with a neural tube defect is 1 in 1000 or less. It is never possible to be sure that your baby is going to be normal. Remember, a screening test can never completely rule out the possibility of an open neural tube defect, Down syndrome or Trisomy 18.