Spina Bifida: causes, symptoms and diagnosis

What causes Spina Bifida?

The exact cause of spina bifida remains a mystery. No one knows what disrupts complete closure of the neural tube, causing a malformation to develop.  Scientists suspect that the cause is multifactoral: genetic, nutritional, and environmental factors play a role. Research studies indicate that insufficient intake of folic acid—a common B vitamin—in the mother’s diet is a key factor in causing spina bifida and other neural tube defects. Prenatal vitamins that are prescribed for the pregnant mother typically contain folic acid as well as other vitamins. 

What are the symptoms of Spina Bifida?

The symptoms of spina bifida vary from person to person, depending on the type and level of involvement.  Closed neural tube defects are often recognized or identified early in life due to an abnormal tuft or clump of hair or a small dimple or birthmark on the skin at the site of the spinal malformation.

Meningocele and myelomeningocele generally involve a fluid-filled sac—visible on the back—protruding from the spinal canal.  In meningocele, the sac may be covered by a thin layer of skin.  In most cases of myelomeningocele, there is no layer of skin covering the sac and an area of abnormally developed spinal cord tissue usually is exposed. 

How is Spina Bifida diagnosed? 

In most cases, spina bifida is diagnosed prenatally, or before birth.  However, some mild cases may go unnoticed until after birth (postnatal).  Very mild forms (such as spina bifida occulta), in which there are no symptoms, may never be detected.

Prenatal Diagnosis

The most common screening methods used to look for spina bifida during pregnancy are second trimester (16th to 18th weeks of gestation) maternal serum alpha fetoprotein (MSAFP) screening and fetal ultrasound.  The MSAFP screen measures the level of a protein called alpha-fetoprotein (AFP), which is made naturally by the fetus and placenta.  During pregnancy, a small amount of AFP normally crosses the placenta and enters the mother’s bloodstream.  If abnormally high levels of this protein appear in the mother’s bloodstream it may indicate that the fetus has an "open" (not skin-covered) neural tube defect.   The MSAFP test, however, is not specific for spina bifida and requires correct gestational dates to be most accurate; it cannot definitively determine that there is a problem with the fetus.   If a high level of AFP is detected, the doctor may request additional testing, such as an ultrasound or amniocentesis to help determine the cause.

The second trimester MSAFP screen described above may be performed alone or as part of a larger, multiple-marker screen.  Multiple-marker screens look not only for neural tube defects, but also for other birth defects, including Down syndrome and other chromosomal abnormalities.  First trimester screens for chromosomal abnormalities also exist but signs of spina bifida are not evident until the second trimester when the MSAFP screening is performed.

Amniocentesis—an exam in which the doctor removes samples of fluid from the amniotic sac that surrounds the fetus—may also be used to diagnose spina bifida.  Although amniocentesis cannot reveal the severity of spina bifida, finding high levels of AFP may indicate that the disorder is present.

Postnatal Diagnosis

Mild cases of spina bifida (ooulta; closed) not diagnosed during prenatal testing may be detected postnatally by X-ray during a routine examination.  Doctors may use magnetic resonance imaging (MRI) or a computed tomography (CT) scan to get a clearer view of the spine and vertebrae.  Individuals with the more severe forms of spina bifida often have muscle weakness in their feet, hips, and legs.  If hydrocephalus is suspected, the doctor may request a CT scan and/or X-ray of the skull to look for extra cerebrospinal fluid inside the brain.

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