How do healthcare providers diagnose spina bifida?

Doctors diagnose spina bifida before or after the infant is born. Spina bifida occulta might not be identified until late childhood or adulthood, or it might not be identified at all.

During Pregnancy

Screening tests can check for spina bifida and other birth defects.

  • Blood tests. A “triple screen” examines blood in several ways to look for neural tube defects, such as spina bifida, and other issues. One of these tests measures AFP, or alpha-fetoprotein, which the fetus produces. A high AFP level might mean that the child has spina bifida.
  • Amniocentesis. The doctor uses a long needle to obtain some of the amniotic fluid surrounding the fetus in the womb. The fluid can be tested for high levels of AFP, which can mean that the fetus has spina bifida.
  • Ultrasound. This technology allows doctors to look at and take pictures of the fetus while it is inside the mother’s womb. Often, spina bifida can be identified through ultrasound.

After the Child Is Born

Sometimes spina bifida is discovered only after the infant is born, especially if the mother did not have prenatal tests or if the ultrasound could not give a clear picture of the spine. Sometimes there is a hairy patch, dimple, dark spot, or swelling on the infant’s back, at the site of the gap in the spine. A doctor can examine the infant’s spine and bones in the back using an image scan such as an X-ray, MRI, or CT.

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