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 Neural Tube Defects and Spina Bifida Neural tube defects are a certain type of birth defect of the brain, spine, and/or spinal cord. Neural tube defects can result in nerve damage, learning disabilities, paralysis, and death. The... read more develop within the first weeks of pregnancy. Other defects, including hydrocephalus Hydrocephalus Hydrocephalus is an accumulation of extra fluid in the normal spaces within the brain (ventricles) and/or between the inner and middle layers of tissues that cover the brain (the subarachnoid... read more and microcephaly Microcephaly Microcephaly is an abnormally small head. Often the head is small because the brain is small and abnormally developed. Microcephaly can be caused by many disorders, including genetic abnormalities... read more , 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 Intellectual Disability Intellectual disability is significantly below average intellectual functioning present from birth or early infancy, causing limitations in the ability to conduct normal activities of daily... read more , seizures Seizures in Children Seizures are a periodic disturbance of the brain’s electrical activity, resulting in some degree of temporary brain dysfunction. When older infants or young children have seizures, they often... read more , and paralysis. Spinal cord damage can result in paralysis, incontinence Urinary Incontinence in Children Urinary incontinence is defined as the involuntary release of urine occurring two or more times per month after toilet training has been completed. Incontinence may be present During the day... read more , and loss of sensation to areas of the body reached by nerves below the level of the defect (see figure ).
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 Amniocentesis Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more (removing a sample of fluid from around the fetus), prenatal ultrasonography Ultrasonography Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more , 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 First-Trimester 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 Computed Tomography (CT) In computed tomography (CT), which used to be called computed axial tomography (CAT), an x-ray source and x-ray detector rotate around a person. In modern scanners, the x-ray detector usually... read more (CT) and MRI Magnetic Resonance Imaging (MRI) In magnetic resonance imaging (MRI), a strong magnetic field and very high frequency radio waves are used to produce highly detailed images. MRI does not use x-rays and is usually very safe... read more 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
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
All women of childbearing age who have not had an infant with a neural tube defect should take a vitamin supplement with folic acid (folate Folate Deficiency Folate deficiency is common. Because the body stores only a small amount of folate, a diet lacking in folate leads to a deficiency within a few months. Not eating enough raw leafy vegetables... read more ) 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.
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