Spina bifida, a condition where the spine remains open, has brought hope to affected newborns with successful in-utero interventions over the past year.

What is Spina Bifida?

Spina bifida, meaning "split or open spine," occurs at a rate of 2-3 per 1,000 live births in Turkey. With regional variations, around 2,500 to 3,500 babies are born annually with this condition. Although over 300 genes have been researched, environmental factors such as nutrition and temperature, alongside some genetic factors, play a role. Folate (folic acid) supplementation is known to reduce the incidence by seven times.

How Does It Develop?

The condition arises during the 4th to 6th weeks of prenatal development when the elements forming the neural tube fail to close completely. Prenatal factors, such as contact of the spinal cord with amniotic fluid and mechanical trauma caused by fetal movements, exacerbate spinal cord damage, which continues throughout prenatal life.

Consequences Without Intervention If untreated, babies born with spina bifida often suffer from hydrocephalus (fluid accumulation in the brain), loss of leg movements leading to an inability to walk, and bladder dysfunction resulting in bladder and kidney problems. These conditions can cause lifelong physical and mental disabilities.

In Turkey, despite the high prevalence, the first successful in-utero intervention for spina bifida was conducted in 2015 at Istanbul Bilim University's Spina Bifida Center. Four babies underwent fetal surgery and were delivered healthy. Such pioneering surgeries offer immense hope for future cases.

Fetoscopic Surgery for In-Utero Repair of Spina Bifida

Spina bifida, meaning "split or open spine," manifests in various forms, primarily affecting the spinal cord, such as meningomyelocele. It is believed to be associated with folic acid deficiency, and there are theories about its hereditary nature. It can also be detected as early as the third week of gestation in mothers using valproic acid. Spina bifida is not only an open spinal cord condition but also encompasses numerous related problems.

Approximately 85% of affected patients experience hydrocephalus (fluid accumulation in the brain). The associated complications include nerve damage due to spinal cord development defects, bladder and kidney problems, neurological issues caused by hydrocephalus and other brain anomalies, impaired leg movements due to spinal cord damage, psychological challenges as the child grows, cardiac problems, and gastrointestinal issues.

Any couple can have a child with spina bifida. Globally, an estimated 10 million people have spina bifida. In developed countries, it occurs in about one in every 1,000 live births. Data presented at the 2013 International Spina Bifida Congress in İzmir, Turkey, indicated regional differences, with rates of 1.5 per 1,000 live births in İzmir, 2.2 in Elazığ, and 4 in Ankara. The prevalence is expected to be higher in Istanbul.

Early surgical intervention within the first eight hours after birth significantly improves success rates for spina bifida patients. For the 85% of patients with hydrocephalus, shunt or third ventriculostomy surgeries are commonly performed. Additionally, orthopedic surgeries for spinal and skeletal issues and urological surgeries for bladder-related problems are often necessary.

The treatment process for spina bifida does not end with surgery. Postoperative care is often exhausting and stressful for families. Diagnostic evaluations and surgical procedures aim to bring patients' lives as close to normal as possible. Although they may not achieve complete health, these individuals can become independent. However, patient awareness and ensuring accessible medical facilities are essential for achieving optimal outcomes. Due to the aforementioned reasons, spina bifida patients are at risk of both physical and mental disabilities.

Modern spina bifida treatment cannot restore lost neurological functions but aims to improve the patient’s adaptation to their condition through supportive measures. The most advanced approach involves in-utero or fetal surgeries. These procedures focus on closing the spinal cord defect during pregnancy with the aid of a patch, preventing further damage to the spinal cord both before and after birth.

Since 1997, fetal spina bifida repair surgeries have been performed globally. In leading centers in the United States, open fetal surgeries are preferred. However, minimally invasive "fetoscopic" procedures, which cause minimal harm to the mother and uterus, are more recent advancements. These protective techniques have allowed healthy deliveries, preventing both brain fluid accumulation and impairment in leg movements.

This technique, introduced for the first time in Turkey, is still practiced only in countries such as Germany and Brazil. The surgery involves accessing the fetus through three instruments, each 3 mm in diameter, inserted into a suitable area near the placenta. The open spinal region is carefully prepared without damaging the nerves, and a natural-origin membrane patch is applied and sutured to create a watertight seal. This procedure protects the exposed spinal cord from amniotic fluid and mechanical trauma caused by the fetus's movements, safeguarding the baby from harmful outcomes. Research has shown that this modern treatment method can reduce brain fluid accumulation and preserve leg movements.

In-utero surgeries are not limited to spina bifida. Today, fetal interventions are also used for conditions such as urinary tract obstructions causing bladder and kidney enlargement, diaphragmatic hernia (where abdominal organs push into the chest cavity due to a lack of respiratory muscles), twin-to-twin transfusion syndrome, certain tumors, and fluid accumulation in the fetal chest. Early interventions in such high-risk congenital disorders significantly reduce inevitable losses.

With Turkey's first fetoscopic surgery performed at our hospital, the country has taken a significant step forward in advancing its medical field to a global level, aiming for healthier future generations. This achievement also honors the legacy of Atatürk’s words, "Entrust me to Turkish physicians." The Florence Nightingale Group of Hospitals, known for many firsts in healthcare in Turkey, continues its tradition of innovation in this field. Similarly, Istanbul Bilim University’s Spina Bifida Application and Research Center, the only one of its kind in Turkey, has adopted the principle of providing the best care for our nation’s children with its experienced multidisciplinary team.

What is Spina Bifida? How is it Diagnosed and Treated?

Spina bifida translates to "split or open spine" and appears in various forms, primarily affecting the spinal cord, such as meningomyelocele. The exact cause of spina bifida remains an unanswered question in medicine. However, folic acid deficiency is considered a significant factor in its etiology, and there are suggestions of hereditary predisposition. Additionally, it can be detected as early as the third week of gestation in pregnancies where the mother is using valproic acid.

Spina bifida involves more than just an open spinal cord; it includes numerous related complications. Approximately 85% of cases are associated with hydrocephalus (fluid accumulation in the brain). Other complications include nerve damage caused by spinal cord development defects, bladder and kidney problems, neurogenic issues resulting from hydrocephalus and other brain anomalies, psychological problems as the child grows, cardiac issues, and gastrointestinal problems.

Symptoms of Spina Bifida

• Open spine
• Urinary incontinence in children with spina bifida
• Walking difficulties associated with spina bifida
• Hydrocephalus (fluid accumulation in the brain caused by spina bifida)

What Lies Ahead for a Child with Spina Bifida? What Should Families Do?

Early surgical intervention within the first 24 hours after birth significantly improves success rates for spina bifida patients. For those with meningomyelocele, hydrocephalus, observed in 85% of cases, is treated with shunt placement or third ventriculostomy surgeries.

The treatment process does not end with surgery. Postoperative care is often more challenging, exhausting, and stressful for families. Through diagnostic evaluations and surgical procedures, the aim is to bring patients' lives as close to normal as possible. Although they may not achieve complete health, these individuals can become independent with proper care.

The Importance of Follow-Up Care

Regardless of the quality of the initial surgery, children who do not attend regular follow-ups or whose families are unable to access consistent care face additional complications and may not reach adulthood.

During early follow-up periods, patients often struggle with fragmented care as they must visit different hospitals for various specialties. These challenges can lead to fatigue and eventually abandoning follow-up care. As a result, families may unwittingly and helplessly leave the child to a difficult fate. Such children often succumb to complications such as neuro-urological, nephrological, neurological issues, or problems with shunts.

Key Symptoms of Spina Bifida

• Open spine
• Urinary incontinence in children with spina bifida

Regular follow-up and multidisciplinary care are critical to managing the condition and improving the quality of life for children with spina bifida.

Spina Bifida Center

The Spina Bifida Center at Florence Nightingale Group Hospitals was established in March 2014 under Istanbul Bilim University. It continues to operate actively, managing 1,400 patients and 11 clinics. Spina bifida is a condition that affects multiple systems, including the urinary tract, bowel, leg movements, brain, spinal structure, and musculoskeletal system.

The mission of our Spina Bifida Center is to coordinate the collaboration of various specialties involved in managing the condition, ensuring a holistic approach to patient care. This approach aims to provide easier and more practical access to healthcare services for our patients, particularly those with physical disabilities.

Another key objective of the Florence Nightingale Group Hospitals Spina Bifida Center is to implement advanced medical practices for spina bifida treatment in Turkey, build the necessary expertise for best practices, and play a pioneering role in establishing national standards for spina bifida care.