Birth defects of the brain or spinal cord cause a spectrum of neurologic problems; some may be barely noticeable, 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 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 previously unknown genetic 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, amniocentesis, prenatal ultrasonography, or fetal magnetic resonance imaging (MRI) and cell-free DNA screening
After birth, computed tomography or MRI
Before birth, amniocentesis (removing a sample of fluid from around the fetus), prenatal ultrasonography, or a newer technique called fetal MRI may enable doctors to identify many of these defects during pregnancy. To help diagnose a genetic disorder that may be causing a defect, doctors may use cell-free DNA screening. Doctors take a sample of blood from the mother and use it to detect DNA from the fetus. The DNA is analyzed to determine whether the fetus has certain genetic disorders.
After birth, computed tomography (CT) and MRI can reveal brain and spinal cord defects by showing pictures of the internal structures of those organs.
When a defect is identified, parents need psychologic support and genetic counseling because the risk of having other children with such a defect may be high.
Treatment of Brain and Spinal Cord Birth Defects
Surgery
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 near-normal development.
Prevention of Brain and Spinal Cord Birth Defects
Folate
All women of childbearing age who have notfolate) beginning 3 months before getting pregnant and continuing through the first 3 months of pregnancy.
Women who have had an infant with a neural tube defect are at high risk of having another affected infant and should take high doses of folate supplements beginning 3 months before getting pregnant again and continuing through the first 3 months of pregnancy. Folate supplements may not prevent all cases of neural tube defects but can reduce the risk of neural tube defects substantially.
More Information
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
March of Dimes: An organization for pregnant people and babies that provides support and information about how to prevent maternal health risks, premature birth, and mother and infant deaths
