Overview 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 ).

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) Computed tomography (CT) is a type of medical imaging that combines a series of x-rays to create cross-sectional, detailed images of internal structures. In computed tomography (CT), which used... read more (CT) and MRI Magnetic Resonance Imaging (MRI) Magnetic resonance imaging (MRI) is a type of medical imaging that uses a strong magnetic field and very high frequency radio waves to produce highly detailed images. During an MRI, a computer... 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.

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.

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.

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