Birth defects of the brain or spinal cord cause a spectrum of neurologic problems; some may not affect health or ability to function, whereas others may be fatal.
Birth defects of the brain and spinal cord can occur in early or late fetal development.
Typical symptoms include intellectual disability, paralysis, incontinence, or loss of sensation in some parts of the body.
The diagnosis is based on various blood and imaging tests, such as computed tomography and magnetic resonance imaging.
Some defects can be repaired surgically, but brain or spinal cord damage is usually permanent.
Folate (folic acid) taken before and during pregnancy can reduce the risk of certain types of defects.Folate (folic acid) taken before and during pregnancy can reduce the risk of certain types of defects.
Of the many possible defects in the brain and spinal cord, those known as neural tube defects develop within the first weeks of pregnancy. Other defects, including hydrocephalus and microcephaly, develop later in pregnancy.
There are many causes of birth defects of the brain and spinal cord, including many still unknown genetic and environmental factors.
Symptoms of Brain and Spinal Cord Birth Defects
Many children with brain and spinal cord defects also have visible abnormalities in the head or back.
Symptoms of brain or spinal cord damage may develop if the defect affects brain or spinal cord tissue. Brain damage can be fatal or result in mild or severe disabilities that may include intellectual disability, seizures, and paralysis. Spinal cord damage can result in paralysis, incontinence, and loss of sensation to areas of the body reached by nerves below the level of the defect (see figure Where Is the Spinal Cord Damaged?).
Diagnosis of Brain and Spinal Cord Birth Defects
Before birth, fetal imaging tests (ultrasound, magnetic resonance imaging [MRI]) or fetal genetic tests (cell-free DNA screening, chorionic villous sampling, or amniocentesis)
After birth, computed tomography (CT) or MRI
Before birth, brain or spinal cord defects in a fetus are usually detected with prenatal ultrasound. If there is a potentially abnormal finding on ultrasound, fetal MRI may be done. If an abnormality is confirmed, doctors may recommend genetic testing of the fetus. The genetic testing can be done by amniocentesis (removing a sample of fluid from around the fetus), chorionic villous sampling (removing a small sample of the chorionic villi, which are tiny projections that make up part of the placenta), or procedures that enable doctors to collect fetal cells, including cell-free DNA screening (taking a sample of blood from the mother and using it to detect DNA from the fetus).
After birth, CT and MRI can reveal brain and spinal cord defects by showing images of the internal structures of those organs.
When a defect is identified, health care professionals give parents information about the abnormality and discuss options for psychological support and also genetic counseling because the risk of having another child with such a defect may be high.
Treatment of Brain and Spinal Cord Birth Defects
Supportive care
Sometimes surgery
Many children with brain or spinal cord birth defects need supportive care to assist them with daily function, education, and treatment of complications or additional birth defects.
Some defects, such as those that cause visible openings or swellings, can be repaired surgically.
Although brain or spinal cord damage resulting from the defect is usually permanent, surgery can help prevent further complications and improve function.
With prompt surgical intervention, some children have normal or near-normal development.
Prevention of Brain and Spinal Cord Birth Defects
Folate
To prevent a neural tube defect in a fetus (and child), all people who are planning to become pregnant or may become pregnant should take a vitamin supplement with folic acid (in a fetus (and child), all people who are planning to become pregnant or may become pregnant should take a vitamin supplement with folic acid (folate), ideally beginning 3 months before getting pregnant and continuing through the first trimester of pregnancy.
For women who have not had a fetus with a neural tube defect, the recommended daily dose of folate is 400 to 800 mcg (0.4 to 0. 8 mg). Women who have had an infant with a neural tube defect are at high risk of having another affected infant and should take a higher daily dose of folate, 4000 mcg (4 mg). Folate supplements may not prevent all neural tube defects in future pregnancies but can reduce the risk of neural tube defects substantially.
More Information
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