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 using a variety of tests. A blood test can be done between Week 16 and Week 18 of pregnancy to measures levels of maternal serum alpha-fetoprotein (MSAFP). This test will show a higher level in 75% to 80% of women carrying a baby with spina bifida.
An ultrasound of the fetus may show abnormalities, such as an open spine, indicating spina bifida. If a blood test indicates that the baby has spina bifida, a test called maternal amniocentesis may be done for further confirmation. This involves using a needle to obtain a sample of fluid from the womb to measure alpha-fetoprotein levels.