Making the Diagnosis
Spina bifida can be easily diagnosed at birth. Myelomeningocele and meningocele are clearly visible, and spina bifida occulta is often suggested by a tuft of hair or skin dimple over the low end of the spine. This can be confirmed with an ultrasound or a magnetic resonance imaging (MRI) scan, which will reveal the size and location of any spinal lesions.
It's also possible to detect it before birth. This can be done with ultrasound, but for screening large numbers of low-risk pregnant women, a blood test that measures levels of maternal serum alpha-fetoprotein (MSAFP) is generally considered reliable. If the test result is positive further tests are performed.