How is Spina bifida diagnosed?

Spina bifida is typically diagnosed either prenatally through maternal blood screening and ultrasound or immediately after birth via physical examination and diagnostic imaging. Early identification of Spina bifida is crucial to coordinate multidisciplinary care and manage potential complications like hydrocephalus or neurological deficits.

How is Spina bifida diagnosed during pregnancy and at birth?

The diagnostic journey for Spina bifida often begins during routine prenatal care. Physicians utilize a "triple screen" or "quad screen" blood test to measure alpha-fetoprotein (AFP) levels; elevated levels in the mother’s blood may indicate a neural tube defect. If screening is positive, a high-resolution ultrasound is performed to visualize the fetal spine. At birth, Spina bifida is diagnosed through a physical examination, noting any visible sac or tuft of hair on the back, followed by MRI or CT scans to assess the extent of nerve involvement and the presence of associated conditions like hydrocephalus.

What tests and examinations are used for Spina bifida?

Because Spina bifida affects multiple body systems, a comprehensive evaluation is required. Key diagnostic and monitoring tools include:

• Prenatal Ultrasound: Allows for direct visualization of spinal irregularities.


• Fetal MRI: Provides detailed images of the nervous system to assess brain and spinal cord development.


• Postnatal MRI: Used to confirm the level of the lesion and identify Chiari II malformation.


• Urodynamic Studies: Essential for evaluating bladder function and preventing urinary system damage.

Which specialists are involved in the diagnosis of Spina bifida?

While Spina bifida is often suspected by an obstetrician or pediatrician, a definitive diagnosis and ongoing management require a specialized team. This typically includes a pediatric neurosurgeon, a urologist, and an orthopedist. Navigating the "diagnostic odyssey" can be frustrating for families, but engaging with a multidisciplinary clinic early ensures that the complexities of Spina bifida are addressed by experts familiar with the condition's nuances.

Next steps

• Consult a pediatric neurosurgeon or a specialized center for fetal surgery if a prenatal diagnosis is suspected.


• Connect with the 207 members of the Spina bifida community on DiseaseMaps.org to share experiences and find local support.


• Maintain regular checkups with a multidisciplinary team to monitor for late-onset symptoms like executive function disorder or sexual dysfunction.

Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or qualified health provider.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Spina bifida overview.


• Orphanet: Portal for rare diseases and orphan drugs.


• Spina Bifida Association (SBA): Clinical guidelines and resources.


• OMIM (Online Mendelian Inheritance in Man): Genetic data regarding neural tube defects.