Obligatory medical device diagnostics.
- Sonography (ultrasound) in prenatal diagnostics (synonym: fetal sonography; examinations of the unborn child in the womb/prenatal (= before birth)). [Spina bifida can be detected by qualified examiners already in the first trimester (third of pregnancy), i.e. specifically from the 12th week of pregnancy (SSW); otherwise usually in the second trimester between the 19th and 22nd SSW]
- Sonography in newborns – since the vertebral arches are not yet fully ossified, the spinal canal is easily visible [pathological: low position of the conus medullaris (deeper than L2/L3; L = lumbar vertebrae), lack of respiratory or pulse-dependent mobility of the myelon (spinal cord), fixation of the myelon].
- X-ray of the lumbosacral junction (area of the lumbar spine and sacrum).
Optional medical device diagnostics – depending on the results of the history, physical examination and obligatory laboratory parameters – for differential diagnostic clarification.
- Amniocentesis (amniocentesis; time: 15th-17th SSW).
- Magnetic resonance imaging (MRI) – computer-assisted cross-sectional imaging method (using magnetic fields, i.e., without X-rays); particularly well suited for changes in the spinal cord and brain / particularly well suited for imaging soft tissue injuries.
The following manifestations of spina bifida (SB) are distinguished:
- Spina bifida totalis (rachischisis) – very rare form; most severe degree of cleft formation; the nerve tissue lies bare, a skin covering is absent.
- Spina bifida partialis
- Spina bifida occulta (SBO; “occulta” = hidden, not visible).
- Bipartite vertebral arch, in which the spinal cord with its spinal meninges is not involved (without an opening)
- This form is usually diagnosed only by chance during X-rays or an examination of the back – it is not visible from the outside
- In bedwetting children, this form of the disease is often found
- Spina bifida aperta (SBA; “aperta” = open, visible).
- In addition to incomplete closure of the posterior vertebral arches, the spinal meninges and/or spinal cord are involved in the cleft formation:
- Myelocele – exposed spinal cord (rare).
- Spina bifida cystica
- Meningocele – spinal cord membranes bulge out of the spinal canal through the vertebral arch space under the skin; spinal cord and spinal nerves are in place; intact outer skin; no neurologic deficits
- Myelomeningocele (MMC) – spinal cord membranes and spinal cord are located outside the vertebral arch and are visible as a protrusion under the skin (Zele); paraplegia of varying severity, neurological malformations; hydrocephalus (hydrocephalus; pathological enlargement of the fluid-filled fluid spaces (cerebral ventricles) of the brain) is found in an average of 72% of patients depending on the lesion level (MMC affects approximately 10% of all spina bifida cases)
- In addition to incomplete closure of the posterior vertebral arches, the spinal meninges and/or spinal cord are involved in the cleft formation:
- Spina bifida occulta (SBO; “occulta” = hidden, not visible).