Spina Bifida (Neural Tube Defect)

How is spina bifida diagnosed?

In most cases, spina bifida is diagnosed prenatally, or before birth. However, some mild cases may go unnoticed until after birth (postnatal). Very mild forms (such as spina bifida occulta), in which there may be no symptoms, may never be detected.

Prenatal Diagnosis

The most common screening methods used to look for spina bifida during pregnancy are second trimester (16th to 18th weeks of gestation) maternal serum alpha fetoprotein (MSAFP) screening and fetal ultrasound. The MSAFP screen measures the level of a protein called alpha-fetoprotein (AFP), which is made naturally by the fetus and placenta. During pregnancy, a small amount of AFP normally crosses the placenta and enters the mother's bloodstream. Abnormally high levels of this protein in the mother's bloodstream may indicate that the fetus has an "open" (not skin-covered) neural tube defect. The MSAFP test, however, is not specific for spina bifida and requires correct gestational dates to be most accurate; it cannot definitively determine that there is a problem with the fetus. Ifa high level of AFP is detected, the doctor may request additional testing, such as ultrasound imaging or amniocentesis to help determine the cause. Amniocentesis 6 is a procedure in which the doctor removes ad examines samples of fluid from the amniotic sac that surrounds the fetus. Although amniocentesis cannot reveal the severity of spina bifida, finding high levels of AFP may indicate that the disorder is present. The second trimester MSAFP screen described above may be performed alone or as part of a larger, multiple-marker screen. Multiple-marker screens look not only for neural tube defects, but also for other birth defects, including Down syndrome and other chromosomal abnormalities. First trimester screens for chromosomal abnormalities also exist but signs of spina bifida are not evident until the second trimester.

Postnatal Diagnosis

Mild cases of spina bifida (occulta; closed) not diagnosed during prenatal testing may be detected postnatally by X-ray during a routine examination. Doctors may use magnetic resonance imaging (MRI) or a computed tomography (CT) scan to get a clearer view of the spine and vertebrae. Individuals with the more severe forms of spina bifida often have muscle weakness in their feet, hips, and legs. Ifhydrocephalus is suspected, the doctor may request a CT scan and/or X-ray of the skull to look for extra cerebrospinal fluid inside the brain.

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