Spina bifida can have severe or fatal consequences for babies, but a little preventive action can go a long way.
Spina bifida takes root in the very early stages of pregnancy when the developing baby’s neural tube, which eventually becomes the brain and spinal cord, does not entirely close and is exposed through the spinal column and visible in the lower back. With spina bifida, varying degrees of severity can occur.
“Spina bifida occulta is the least worrisome, and the only sign may be a tuft of hair over the infant’s lower back. In this case, the neural tube is intact with normal functioning,” said Dr. Ben Faustich, Marshfield Clinic Health System OB-GYN. “On the other end of the spectrum, you can have a meningomyelocele, a more severe kind of spina bifida, where the spinal cord and surrounding membranes are exposed. Meningomyelocele can result in permanent lower extremity paralysis for the child.”
If meningomyelocele is identified, a consult with a pediatric neurosurgeon is commonly the next step for pregnant women.
What’s the prognosis?
The gravest outcome of spina bifida is death of the baby, but more mild forms of the disease may present symptoms like bowel and bladder problems, lower-leg paralysis, and increased fluid and pressure in the head. Spina bifida also can negatively impact intelligence level.
“Treatment now starts in-utero. Several specialty centers across the country can perform in-utero surgery to a fetus to correct the problem prior to delivery. This is usually between 24 to 28 weeks. This has been shown to significantly improve outcomes for children as opposed to waiting until after delivery to repair. Thus, early detection is even more important to allow the time to confirm the diagnosis and coordinate the treatment,” Dr. Faustich said.
Detection
“Detection can happen during the standard fetal anatomy screening ultrasound at 20 weeks or at the blood test starting at 15 weeks,” Dr. Faustich said. “There are earlier ultrasounds performed by maternal fetal medicine specialists at 12 weeks for those at higher risk.”
Women who have had a prior pregnancy in which the child had a neural tube defect are at greater risk of seeing neural tube defects occur in future pregnancies. Taking anti-seizure medications also increases risk for spina bifida.
Other risk factors include pre-gestational diabetes, obesity, a folate deficiency, certain other rare genetic syndromes or fever or hyperthermia during the early stages of the first trimester.
Prevention
Taking a daily folic acid supplement is an important action women can take to help prevent neural tube defects, Dr. Faustich said. He recommends women in the first three months of pregnancy and women wanting to become pregnant take folic acid, which is contained in most prenatal vitamins.
The recommended dose of folic acid for women is 0.4 milligrams (400 micrograms) daily. Women who have had a previous child affected by a neural tube defect or are taking anti-seizure medications should take 4 milligrams of folic acid daily, which is ten times the amount normally recommended.
“The folic acid needs to be present in the body at the time of conception, prior to a person knowing of the pregnancy,” Dr. Faustich said. “Much of the initial development occurs before a missed period or a positive pregnancy test.”
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