Spina Bifida: Information on Causes, Diagnosis & Treatments

Spina Bifida Overview

Spinal Development Abnormality Spina bifida (cleft spine) is a congenital birth defect (malformation) that occurs when the baby spine (backbone) forms abnormally. In the United States, spina bifida is the most common congenital embryonic neuro-tube defect involving approximately 2000 newborns every year. Statistics maintained by the CDC (Centers for Disease Control and Prevention) reveal that there are more than 165,000 individual suffering from spina bifida in America.

The central nervous system defect involves an abnormality of the vertebral column where the spinal cord is exposed instead of being protected inside the spinal column. The defect starts in the womb between 21 and 28 days after conception when the neural tube is forming. There are three distinct types of spina bifida including:

  • Spina Bifida Occulta – This hidden (occulta) type of spina bifida is not visible nor usually associated with symptoms or complications. Doctors typically discover this form of the defect accidentally when an MRI (magnetic resonance imaging) scan or X-ray is taken for another reason. It is the most common form of the condition.

  • Meningocele – When the membrane surrounding the spinal cord becomes enlarged, it usually presents no problems. However, if the spinal canal is bifid (cleft), the long persist may expand in rising to the surface of the skin. Fortunately, the spinal cord is not exposed because the success does not enclose it. Doctors will typically surgically remove the cyst when required without causing a permanent disability. This is a rare form of the defect.

  • Myelomeningocele (spina bifida cystica) – As the most severe and complex form of spina bifida, this type of defect usually creates neurological issues that can be severe or fatal. This is because the spinal cord and nerves are exposed outside the spinal column and skin. Sometimes, cysts will exist with this defect that encloses a portion of the nerves and spinal cord.

Before the invention of antibiotics, children born with this form of the defect usually died after birth. However, treatments are not always effective and might cause some form of permanent paralysis or bladder or bowel function. If the defect to the spinal cord is higher in the column, it can cause severe paralysis. However, most forms of spina bifida cystica develop in the tailbone (sacral) or lower back (lumbar) regions.

Children born with spina bifida today can receive treatments that improve the quality of their lives. This involves advanced surgical techniques, early diagnosis, and better corrective surgeries that are often performed while the fetus is still in the womb.

Who Is at Risk for Spina Bifida?

Medical science is yet to determine the exact cause of spina bifida. However, certain risk factors have been identified, including:

  • Ethnicity – Caucasians and Hispanics are more likely to give birth to a baby with spina bifida.

  • Gender – Females are more likely to be born with spina bifida compared to males.

  • Family History – Couples who have given birth to a child with the neural tube defect have a slightly increased potential of birthing another baby with the identical defect. This potential increases significantly if two children and the family have already been born with the condition. That said, most families of the child born with spina bifida have no family history of the defect.

  • Vitamin B-9 (Folate) Deficiency – This vitamin is a crucial component to the healthy development of a newborn. While B-9 can be taken as a synthetic supplement (folic acid), folate is the natural form of the vitamin. A deficiency in folate can increase the potential risk of the baby developing spina bifida or another neural tube defect.

  • Taking Certain Drugs – Depakene and other anti-seizure drugs have been associated with neural tube defects when the mother takes the medication during pregnancy. Scientists believe the medicine causes an interference with the body’s capacity to utilize folate during fetal development.

  • Diabetes – Blood sugar levels that have become out of control in diabetic women cause a significantly elevated risk of birthing a newborn with spina bifida.

  • Obesity – Women who were obese prior to becoming pregnant have an increased potential risk of birthing a newborn with the neural tube defect including spina bifida.

  • Elevated Body Temperature – Medical researchers believe that spina bifida can develop if the mother suffers from hyperthermia (elevated body temperature) during the first few weeks of pregnancy. This includes elevating the body’s core temperature in a hot tub or sauna.

Women of childbearing age who know they have at least one of the risk factors for spina bifida listed above should speak with her obstetrician/gynecologist about their folic acid levels to determine if a prescription dosage or larger dosage of vitamin B-9 should be given prior to becoming pregnant.

Common Symptoms

The most common symptoms associated with spina bifida, especially in its severe form, will include:

  • Seizures

  • Bladder and bowel problems

  • Weakened leg muscles often involving paralysis

  • Orthopedic issues including scoliosis (curved spine), uneven hips, or deformed feet

Diagnosing Spina Bifida

Typically, pregnant women are provided prenatal screening tests. One of those tests can identify markers involving birth defects including spina bifida. Even if the test results prove to be negative, the mother should remain concerned about the small potential that spina bifida could still be present. The doctor will likely perform various tests that include:

  • Blood tests that look for spina bifida markers include:
    • MSAFP (maternal serum alpha-fetoprotein) Test

    • hCG (human chorionic gonadotropin) Test

    • Estriol Test

    • Inhibin A Test

Typically, doctors are performing a quad or triple screen combination tests to identify Down syndrome (Trisomy 21) and not spina bifida or another neural tube defect. However, these tests can identify spina bifida markers in most cases.

  • Ultrasound – Ultrasonography is an effective screening tool for identifying spina bifida. This procedure is usually recommended after blood tests revealed elevated AFP (alpha-fetoprotein) protein levels that are produced by the baby.

  • Amniocentesis – if the ultrasound is normal, but the levels of AFP are elevated, the doctor might recommend amniocentesis where a needle is used to remove a fluid sample from the amniotic sac that contains the baby. If the levels of AFP are elevated in the fluid, it is usually an indicator that the baby’s spine is exposed and leaking the protein into the amniotic sac.

Spina Bifida Treatments

The type of treatment the doctor will remap recommend for spina bifida depends on the severity of the defect. In some cases, especially in spina bifida occulta, no treatment is required at all. However, in more severe cases, the doctor will recommend numerous options that include:

  • Surgical Procedure – Treating myelomeningocele (spina bifida cystica) nearly always requires a surgical procedure to relocate the meninges back in place in the vertebrae. This surgery is usually required in the first day or two after birth.

  • Prenatal Surgery – Usually prior to the 26th-week of pregnancy, the surgeon will expose the fetus in the pregnant mother through a surgical procedure and repair the spinal cord of the fetus after opening the mother’s uterus.

  • Ongoing Care – The child might suffer from bladder or bowel problems, paralysis, or other condition is the result of their defect and requires ongoing care throughout childhood and into adulthood.

Many doctors recommend mothers about to birth the child with spina bifida to consider a cesarean section, especially of a large cyst has been detected. This option makes it much easier and safer to deliver the newborn.

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Sources:

http://www.mayoclinic.org/diseases-conditions/spina-bifida/basics/definition/con-20035356

https://my.clevelandclinic.org/health/articles/spina-bifida-in-adults

https://my.clevelandclinic.org/health/articles/spina-bifida

https://www.cdc.gov/ncbddd/spinabifida/index.html

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