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Spina Bifida Diagnosis

Spina Bifida is a type of a Neural Tube Defect that affects 1 in 1,000 pregnancies in the UK. It can often be diagnosed as early as 10 weeks. 

Spina Bifida: Key Information

Spina bifida is a condition where a baby’s spine and spinal cord do not develop properly in the womb, leading to a gap in the spine. It is a type of neural tube defect, which means it happens when the neural tube, a structure that forms the brain and spine, doesn’t close fully during early pregnancy. This can cause problems with the baby’s nervous system, such as weakness or paralysis in the legs, and sometimes issues with bladder and bowel control. Spina bifida can range from mild to severe, depending on how much of the spine is affected.

The exact cause of spina bifida is not fully understood, but it is believed to involve a combination of genetic and environmental factors. One of the main preventable causes is a lack of folic acid, a B vitamin essential for healthy development in early pregnancy. Women who are planning to become pregnant or are in the early stages of pregnancy are advised to take folic acid supplements to reduce the risk of neural tube defects like spina bifida. Early diagnosis can be made through prenatal screening, such as ultrasounds or blood tests, allowing parents to prepare or seek treatment options if needed.

10 week scan spina bifida

10 Week Ultrasound is a powerful tool in diagnosing Spina Bifida

Cleft Lip & Palate Staticstics

  • Folic acid supplementation has reduced spina bifida cases by about 70% according to some studies

  • Worldwide, spina bifida affects about 1 in 2,500 live births

  • 80% of children born with spina bifida require surgery soon after birth to close the spinal opening and reduce the risk of further complications​

  • 85% of babies with the most severe form of spina bifida (myelomeningocele) will develop hydrocephalus, a condition where excess fluid accumulates in the brain

  • Around 75% of individuals with spina bifida experience lower limb weakness or paralysis, affecting their ability to walk

  • 10 Week Scan and Early Fetal Scan can provide early diagnosis

Spina Bifida: What assistance can we provide?


Spina Bifida, a neural tube defect, traditionally has been detected during the routine 20-week NHS anomaly scan, which has a high success rate for diagnosing this condition. However, with advancements in ultrasound technology, Spina Bifida can sometimes be identified earlier during a fetal scan as early as 1- weeks. Early detection is crucial as it allows parents to explore options for antenatal management, as well as potential interventions that may improve outcomes for the baby.

In a study published in 2011, fetal medicine professionals explored the use of 3D ultrasound and other advanced imaging techniques to diagnose Spina Bifida in the first trimester. It was found that these technologies provide clearer and more detailed images, significantly enhancing early detection rates. This was the foundation for our 10-Week Scan where we are able to detect many cases.

For those seeking comprehensive guidance on managing a pregnancy affected by Spina Bifida, our expert Fetal Medicine and Obstetrics consultant, Ms Diane Nzelu, is available for consultations. If you or your partner have a history of neural tube defects, or if you’ve experienced Spina Bifida in a previous pregnancy, our genetic counsellor offers pre-pregnancy counselling to help assess risks and guide you through the process.

Baby scan for cleft lip

Image from our 12 week Early Fetal Scan

Fetal Anomalies related to Spina Bifida

While Spina Bifida often appears in isolation to other fetal abnormalities, in an otherwise healthy fetus, they can sometimes feature in babies with other chromosomal, genetic or physical abnormalities. Some of these are:

Hydrocephalus

Brain Anomaly

This is the accumulation of cerebrospinal fluid in the brain’s ventricles, which often occurs due to impaired drainage caused by the spinal defect. It can lead to increased pressure in the brain and requires careful monitoring and treatment.

Arnold-Chiari II Malformation

Brain Anomaly

This condition involves the downward displacement of the cerebellum and brainstem into the spinal canal, which is commonly associated with Spina Bifida. It can contribute to the development of hydrocephalus.

Clubfoot

Musculoskeletal Anomaly

Due to nerve damage in the lower spine, Spina Bifida can lead to musculoskeletal deformities like clubfoot, where the foot is twisted out of its normal position.

Scoliosis

Spine Anomaly

Abnormal curvature of the spine can occur in infants with Spina Bifida due to muscle imbalance and abnormal spinal development.

Lower Limb Paralysis

Musculoskeletal Anomaly

Depending on the severity and location of the spinal defect, Spina Bifida can cause paralysis or weakness in the legs, which may affect mobility and muscle development.

Bowel and Bladder Dysfunction

Digestive System Anomaly

Many babies with Spina Bifida experience bowel and bladder control issues due to nerve damage, which affects the lower urinary tract and digestive system.

Orthopaedic Anomalies

Orthopaedic Anomalies

Conditions like hip dislocation and contractures (joint stiffness) can occur as a result of muscle weakness or imbalances in babies with Spina Bifida.

Frequently Asked Questions

Your questions answered

What is Spina Bifida?

Spina Bifida is a birth defect where the spinal cord and surrounding vertebrae do not form properly, leading to an incomplete closure of the spine. It falls under the category of neural tube defects, which occur early in pregnancy, often before a woman even knows she is pregnant. There are several types of Spina Bifida, with Myelomeningocele being the most severe form, where the spinal cord and nerves are exposed through an opening in the back.

This condition can result in a wide range of physical and neurological issues, depending on the location and severity of the spinal defect. Early detection through prenatal screening allows for better planning and management during pregnancy, labour, and postnatal care. In the UK, the NHS anomaly scan at 20 weeks can typically detect Spina Bifida, though advancements in ultrasound technology now allow for earlier detection.

How is Spina Bifida diagnosed during pregnancy?

Spina Bifida is typically diagnosed during pregnancy through routine prenatal screening. The 20-week NHS anomaly scan is the most common method, where ultrasound technology is used to check for physical defects, including issues with the spine. In some cases, Spina Bifida can be detected as early as 10 weeks with advanced ultrasound techniques, offering parents more time to consider antenatal management options.

Additionally, blood tests like the maternal serum alpha-fetoprotein (MSAFP) screening can indicate the likelihood of neural tube defects, including Spina Bifida. If Spina Bifida is suspected, further diagnostic tests, such as amniocentesis or fetal MRI, may be performed to confirm the diagnosis and assess the severity of the condition.

What are the symptoms of Spina Bifida?

The symptoms of Spina Bifida vary depending on the type and severity of the defect. In mild cases, such as Spina Bifida Occulta, there may be no visible signs or symptoms, and the condition might only be discovered incidentally. In more severe forms, like Myelomeningocele, symptoms are more noticeable and can include a sac-like protrusion on the baby’s back, where the spinal cord and nerves are exposed.

Other symptoms may include weakness or paralysis of the legs, hydrocephalus (an accumulation of fluid in the brain), bowel and bladder control issues, and orthopaedic problems such as clubfoot or scoliosis. Early detection and intervention can help manage these symptoms more effectively, improving the child’s quality of life.

What causes Spina Bifida?

The exact cause of Spina Bifida is not entirely known, but it is believed to be due to a combination of genetic and environmental factors. A deficiency in folic acid (vitamin B9) during the early stages of pregnancy is a well-known risk factor, as this vitamin plays a crucial role in the development of the neural tube. Women who do not consume enough folic acid before conception and in early pregnancy are at higher risk of having a baby with Spina Bifida.

Other factors that may increase the risk include a family history of neural tube defects, maternal obesity, and certain medications, such as anti-seizure drugs, which can interfere with folic acid metabolism. However, not all cases of Spina Bifida can be linked to these risk factors, making it a complex condition to predict.

Can Spina Bifida be prevented?

While not all cases of Spina Bifida can be prevented, taking folic acid supplements before conception and during early pregnancy has been shown to significantly reduce the risk. The NHS recommends that women take 400 micrograms of folic acid daily from the time they plan to conceive until the 12th week of pregnancy. For those with a higher risk, such as a previous child with Spina Bifida, a higher dose of 5 milligrams may be prescribed by a doctor.

Other preventive measures include maintaining a healthy weight before pregnancy, managing chronic health conditions like diabetes, and avoiding certain medications that can increase the risk of neural tube defects. It’s important to consult with a healthcare provider for personalised advice on reducing the risk of Spina Bifida.

What are the different types of Spina Bifida?

There are three main types of Spina Bifida: Myelomeningocele, Meningocele, and Spina Bifida Occulta. Myelomeningocele is the most severe form, where the spinal cord and nerves protrude through an opening in the spine, leading to significant physical and neurological complications. Meningocele involves the protrusion of the meninges (protective coverings of the spinal cord) without the spinal nerves, typically resulting in fewer symptoms.

Spina Bifida Occulta is the mildest form and often goes undiagnosed, as it usually does not cause any symptoms. In this case, there is a small gap in the spine, but the spinal cord and nerves remain intact. Each type requires different levels of medical management, depending on the severity of the condition.

What treatment options are available for Spina Bifida?

Treatment for Spina Bifida depends on the severity and type of the condition. For Myelomeningocele, surgery is often required shortly after birth to close the opening in the spine and prevent infection or further nerve damage. In some cases, foetal surgery may be offered to repair the spinal defect while the baby is still in the womb, though this is a complex procedure with its own risks.

In addition to surgery, children with Spina Bifida may require ongoing medical care to manage symptoms such as hydrocephalus, bowel and bladder issues, and mobility problems. Physical therapy, occupational therapy, and assistive devices, such as leg braces or wheelchairs, can help improve mobility and independence.

What is the life expectancy of someone with Spina Bifida?

The life expectancy of someone with Spina Bifida has improved significantly over the past few decades, thanks to advances in medical care. Many people with Spina Bifida, particularly those with milder forms like Spina Bifida Occulta or Meningocele, can live full and productive lives with the right medical support. However, those with more severe forms, like Myelomeningocele, may face more significant challenges.

The life expectancy for individuals with severe Spina Bifida largely depends on the management of complications such as hydrocephalus, infections, and mobility issues. With early intervention, surgical treatments, and ongoing medical care, many people with Spina Bifida can achieve a good quality of life and live well into adulthood.

Is Spina Bifida hereditary?

Spina Bifida is not strictly hereditary, but genetics can play a role in its development. If a parent has had a child with Spina Bifida or if there is a family history of neural tube defects, the risk of having another child with the condition increases. However, in most cases, Spina Bifida occurs without any family history, indicating that environmental factors also play a significant role.

Couples with a family history of Spina Bifida or other neural tube defects may benefit from genetic counselling, which can provide insights into their individual risk factors and guide them through preventive measures, such as taking high-dose folic acid supplements before conception.

How does Spina Bifida affect a child’s mobility?

Spina Bifida can have a significant impact on a child’s mobility, particularly in more severe cases like Myelomeningocele. The level of mobility impairment depends on the location and extent of the spinal defect. Babies with Spina Bifida affecting the lower spine may experience weakness or paralysis in the legs, making it difficult for them to walk without assistance.

Many children with Spina Bifida require physical therapy and assistive devices, such as leg braces, crutches, or wheelchairs, to improve mobility. Early intervention and rehabilitation can greatly enhance their independence and quality of life, allowing them to participate in everyday activities.

What is the role of folic acid in preventing Spina Bifida?

Folic acid plays a crucial role in preventing neural tube defects, including Spina Bifida. It is a B vitamin that helps in the proper development of the neural tube, which forms the brain and spinal cord during the early stages of pregnancy. A deficiency in folic acid increases the risk of the neural tube not closing properly, leading to Spina Bifida.

The NHS recommends that women take 400 micrograms of folic acid daily from before conception until the 12th week of pregnancy to reduce the risk of Spina Bifida. Women at higher risk, such as those with a previous pregnancy affected by Spina Bifida, may need a higher dose of folic acid, which can be prescribed by their doctor.

What is fetal surgery for Spina Bifida?

Fetal surgery for Spina Bifida is a relatively new and complex procedure where the spinal defect is repaired while the baby is still in the womb. This surgery is typically performed between 19 and 26 weeks of pregnancy and aims to improve outcomes by reducing the severity of symptoms such as hydrocephalus and improving mobility after birth.

While fetal surgery can offer significant benefits, it also carries risks, including preterm labour and complications for both the mother and baby. It is not suitable for all cases of Spina Bifida, and parents should discuss the potential risks and benefits with a specialist to determine the best course of action.

How can families support a child with Spina Bifida?

Families play a crucial role in supporting a child with Spina Bifida by ensuring they receive the necessary medical care and therapies to manage the condition. This can include regular visits to specialists such as neurologists, orthopaedists, and urologists, as well as physical therapy to improve mobility and independence. Supportive devices like leg braces, walkers, or wheelchairs may also be needed, depending on the severity of the condition.

Emotional support is equally important, as children with Spina Bifida may face challenges related to self-esteem and social inclusion. Encouraging participation in activities, providing a supportive environment, and connecting with other families affected by Spina Bifida can help children feel empowered and lead fulfilling lives.

1. Shine Charity

Website
Shine is the leading UK charity supporting individuals and families affected by Spina Bifida and Hydrocephalus. They offer a wide range of support services, including information, advice, community support, and health and wellbeing guidance.

2. Spina Bifida Hydrocephalus Scotland (SBH Scotland)

Website
SBH Scotland provides dedicated support to children, young people, and adults affected by Spina Bifida and Hydrocephalus. Their services include healthcare guidance, family support, counselling, and tailored educational resources.

3. Spina Bifida Association (US-based, with global resources)

Website
Although based in the USA, the Spina Bifida Association offers a wealth of global resources on the condition, including educational materials, support for families, and medical guidance. Their website is a valuable resource for understanding treatment and care options.

4. Contact – For Families with Disabled Children

Website
Contact is a UK charity that supports families with disabled children, including those affected by Spina Bifida. They offer advice on education, healthcare, financial support, and provide access to local support groups.

5. NHS – Spina Bifida Overview

Website
The NHS website provides comprehensive information on Spina Bifida, including symptoms, causes, diagnosis, treatment options, and guidance on managing the condition.

6. Newlife Charity

Website
Newlife provides essential equipment and support for disabled children, including those with Spina Bifida. They offer grants for specialist equipment, such as mobility aids and assistive technology, and support families through their nurse-led services.

7. Together for Short Lives

Website
This UK charity supports families of children with life-limiting conditions, including Spina Bifida. They offer palliative care, family support services, and guidance for navigating healthcare systems.

8. Scope UK

Website
Scope provides support and practical information for people with disabilities and their families. Their resources cover a wide range of topics, including financial advice, education, healthcare, and employment opportunities for individuals with Spina Bifida.

9. Disabled Living Foundation (DLF)

Website
The DLF provides independent advice on mobility aids, equipment, and adaptations for people with disabilities, including children with Spina Bifida. They offer guidance on how to access and use assistive technology to improve daily living.

10. BDF Newlife

Website
This organisation helps fund essential equipment for children with disabilities, including Spina Bifida. They also run a nurse-led helpline for parents needing support and guidance.

These charities and organisations provide valuable resources for parents and caregivers of babies with Spina Bifida, offering everything from medical advice to emotional support and financial

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