Spina Bifida

Evidence 

https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/pd.5802 

Lara Gotha, Vagisha Pruthi, Nimrah Abbasi, Abhaya V. Kulkarni, Paige Church, James M. Drake, Jose C.A. Carvalho, Yenge Diambomba, Varsha Thakur, Greg Ryan, Tim Van Mieghem 

Worldwide, about 150 000 infants are born with spina bifida yearly, making this condition one of the most common fetal central nervous system anomalies compatible with life. Over the last two decades, major changes in the prenatal diagnosis and management of spina bifida have been introduced. 

Education 

Spina bifida is a congenital condition that occurs when the neural tube, which eventually forms the brain and spinal cord does not close properly during early pregnancy. This defect leads to an opening in the spinal column, exposing tissues and nerves of the spinal cord. The severity of spina bifida can vary widely, ranging from mild cases with minimal symptoms to severe cases that cause significant disabilities. 

There are several types of Spina bifida which include: 

Spina Bifida Occulta: This is the mildest form, where the spinal defect is small and may not cause any noticeable symptoms. 

Meningocele: In this form, the meninges (protective covering of the spinal cord) protrude through the spinal defect, forming a sac filled with cerebrospinal fluid. 

Myelomeningocele: This is the most severe form, where the spinal cord and nerves protrude through the spinal opening, often causing paralysis, bladder and bowel dysfunction, and other neurological issues. 

Prenatal Screening 

Spina bifida can be detected during routine prenatal screening, such as ultrasound and blood tests. Elevated levels of alpha-fetoprotein (AFP) in maternal blood or abnormal findings on ultrasound may indicate a neural tube defect like spina bifida. 

In rare cases it is not diagnosed during routine prenatal tests but will be diagnosed when the baby is born with a bubble on their back. It can also be detected postnatally using ultrasound or by x-ray. 

Management Options 

If spina bifida is detected prenatally or suspected based on screening results, further diagnostic testing such as amniocentesis or fetal MRI may be recommended to confirm the diagnosis and assess the severity of the condition. Families can then receive counselling about treatment options and potential outcomes. 

In cases of myelomeningocele, the delivery plan may involve consulting with a specialised medical team, including neonatologists, paediatric surgeons, and neurosurgeons.  

Babies born with spina bifida require comprehensive medical care and ongoing management to address associated complications. This may include surgical repair of the spinal defect, treatment for hydrocephalus (excess fluid in the brain), physical therapy, orthopaedic interventions, and management of bladder and bowel function. 

Empowerment 

The long-term outlook for individuals with spina bifida has improved significantly with advances in medical and surgical care. Early intervention services, educational support, and specialised therapies can help optimise outcomes and enhance quality of life for children and adults living with spina bifida. 

Overall, the management of spina bifida involves a multidisciplinary approach, with healthcare providers collaborating to provide comprehensive care tailored to the specific needs of each individual and family. Early diagnosis, prenatal counselling, and coordinated care throughout pregnancy and beyond are essential for optimising outcomes and supporting families affected by spina bifida. 

Useful Links 

The Spina Bifida Association Australia 

https://www.sbfv.org.au/index.html 

The Sydney Children’s Hospital Network 

https://www.schn.health.nsw.gov.au/spina-bifida-factsheet 

Through the unexpected 

https://throughtheunexpected.org.au/ 

Panda - Perinatal Anxiety & Depression Australia 

https://panda.org.au/ 

For When – Perinatal Mental Health and Wellbeing 

https://forwhen.org.au