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column. The sac may also protrude through
the skin, leaving the cord unprotected. Surgery to close the
baby's back is usually done within the first 24 to 48 hours of life
to protect the spinal cord and nerves from trauma, to guard
against further loss of functional ability, and to prevent infection.
Spina bifida usually results in significant
impairments as a result of spinal cord damage. The degree
of impairment usually corresponds to the level of the spinal
cord lesion involved. The impairments include lower extremity
(feet and legs) paralysis, problems with bowel and bladder
control, accumulation of fluid in the brain (hydrocephalus),
learning disabilities, and latex allergy. These impairments
often require extensive medical follow-up and surgery.
Causes/Types
Spina bifida is the most common permanently disabling birth defect. Approximately 3,000 pregnancies per year are affected by spina bifida in the United States—more than muscular dystrophy and cystic fibrosis combined. Spina bifida affects approximately 7 out of every 10,000 newborns in the United States.
Other forms of neural tube defects include anencephaly and encephalocele.
Anencephaly occurs when most of the brain and the bones of the skull do not develop. Most infants born with anencephaly do not survive more than a few hours or days after birth.
Encephalocele occurs when there is an opening in the bones of the skull through which brain tissue protrudes.The opening commonly occurs at the back of the skull, but can occur elsewhere. The outcome for babies with encephalocele often depends on the size and type of the defect. If the encephalocele is large, the brain may be small and poorly developed, which can result in significant developmental problems. On the other hand, babies with small encephaloceles may have excellent outcomes after early surgeries to close the defect.
All women have a risk for having a baby with spina bifida. In fact, 95% of women who have a spina bifida-affected pregnancy have no family history of the condition. However, women who have once had a spina bifida-affected pregnancy are 20 times more likely to have subsequent affected pregnancies. Also, women who take some anti-seizure medications, and women who have insulin-dependent diabetes are at higher risk for having a baby with spina bifida.
Research studies indicate that up to 75% of spina bifida-affected pregnancies could be prevented by taking 0.4 mg of folic acid (a water-soluble B vitamin) before conception and during the first three months of pregnancy.
It is now recommended that all women of child-bearing age (between 15 and 45) should consume 0.4 mg of folic acid daily, because one-half of all United States pregnancies are unplanned, and birth defects of the spine occur very early in pregnancy. Current estimates are that only 30 percent of women do so.
Research shows that women who have had a previous spina bifida-affected pregnancy can also significantly reduce their risk of having another such pregnancy by taking large doses of folic acid. The Center for Disease Control (CDC) recommends a dose of 4 mg daily at least one month prior to any planned pregnancy and continuing through the first three months of pregnancy.
Diagnosis
Prenatal Diagnosis:
Prenatal testing can identify a spina bifida-affected pregnancy in most cases. A blood test known as Expanded AFP blood screening (XAFP), or “Quad screening” is offered to pregnant women between 15-20 weeks of pregnancy. The blood sample is tested for AFP (alphafetoprotein), a protein made by the developing fetus and normally present in a pregnant woman’s blood. Abnormally high amounts of AFP in the mother’s blood means that the pregnancy is at increased risk for a neural tube defect (NTD) such as spina bifida.
This simple screening test can detect about 80-95% of pregnancies with a neural tube defect (including anencephaly), but it is not foolproof. If the AFP blood level is abnormal, further testing is offered, including a detailed ultrasound exam. Amniocentesis tests for chromosome abnormalities in the developing baby, but also measures the AFP level in the amniotic fluid (the "water" that surrounds the baby). Amniocentesis, carries a small risk of miscarriage (less than 1 in 300).
Most women who have screen positive XAFP blood test results go on to have healthy babies. Genetic counselors are an excellent resource for families who may be considering prenatal testing. They can review their family and medical history, discuss testing options, coordinate tests, and interpret the results.
Treatment/Services
The Kaiser Permanente Regional Spina Bifida Clinic was created in 1986 to provide well-coordinated state-of-the-art care for persons diagnosed with a neural tube defect, such as spina bifida. Today the clinic actively follows approximately 200 children and adults from throughout northern California, currently ranging in age from newborn to 70 years old. Because spina bifida was historically just a pediatric condition, most spina bifida programs were established at pediatric hospitals, and so do not treat adults. Kaiser Permanente’s Regional Spina Bifida Clinic (SBC) is one of the few nationwide that does.
Individuals with spina bifida usually have complex medical needs that require coordinated care for multiple systems, including:
- central nervous system (brain and spinal cord)
- genitourinary (bladder, kidney)
- gastrointestinal (colon)
- musculoskeletal (spine and lower extremities).
These individuals may also experience multiple developmental and psychosocial issues. For this reason, the SBC includes a clinic team consisting of care providers from a wide range of disciplines. Those disciplines are listed below.
Multidisciplinary Clinic Staff:
Medical Director:
Katherine Dawson, MD, Genetics
Clinic Coordinators:
Terri Hupfer, RN, MSN, NNP, Christine Kinavey, RN, CNS, PhD, Duane Marble, RN, MSN
Clerical Support Staff:
Adrienne Reece, Cassandra Atkins
Specialty Disciplines:
- Adult and Pediatric Neurology
- Pediatric Neurosurgery
- Orthopedic Surgery
- Adult and Pediatric Physical Medicine and Rehabilitation
- Physical Therapy
- Occupational Therapy
- Adult and Pediatric Urology
- Pediatric Nephrology
- Developmental Pediatrics
- Adult Medicine
- Genetic Counseling
- Nutrition
- Social Work
- Certified Wound-Ostomy-Continence Nurse
- Clinical Nursing
Regional Spina Bifida Clinic
(510) 752-6919 phone
(510) 752-1574 fax
Clinic Coordinators:
Terri Hupfer, RN, MSN, NNP (510) 752-1541
Christine Kinavey, RN, CNS, PhD (510) 752-7084
Duane Marble, RN, MSN (510) 752-2028
Clerical Support Staff:
Adrienne Reece, Cassandra Atkins
Other
Information
Fertility
Fertility is normal in women with spina bifida, while many men with this condition are infertile.
Women with spina bifida should have the same success in becoming pregnant as women without spina bifida. There are sometimes problems that develop during pregnancy and delivery in women with spina bifida. Although there are few obstetricians with specific experience in working with these women, a caring, interested doctor can work closely with them to provide appropriate care.
Men with spina bifida may be infertile, but they can often have erections. Testing can be done to determine if a man has an adequate number of active sperm. A man’s urologist can work with him to discuss relevant tests and reproductive options.
Recurrence risks
The chance that a parent who has spina bifida will have a child who also has spina bifida is about one in 50 for each pregnancy. Therefore, most people with spina bifida have unaffected children. As previously mentioned, the chance of having a baby affected with spina bifida is decreased by the mother’s taking folic acid daily one month before conception and during the first three months of pregnancy. A genetic counselor can meet with you to discuss recurrence risks and prevention strategies for the parent with spina bifida, a couple who has already had a spina bifida-affected child, and for relatives of the parents or child.
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