Neural Tube Defects and Spina Bifida

There are many causes of neural tube defects. Deficiency of a B vitamin, 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 , during pregnancy is a significant factor. Genetic factors and use of certain drugs during pregnancy (such as valproate) can make neural tube defects more likely. The defect often develops before the mother knows she is pregnant.

Many children who have minor neural tube defects have no symptoms.

Most symptoms caused by neural tube defects result from brain or spinal cord damage.

Brain damage can cause problems, including water on the brain (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 ), learning disabilities Learning Disorders Learning disorders involve an inability to acquire, retain, or broadly use specific skills or information, resulting from deficiencies in attention, memory, or reasoning and affecting academic... read more , and difficulty swallowing Difficulty Swallowing Some people have difficulty swallowing (dysphagia). In dysphagia, foods and/or liquids do not move normally from the throat (pharynx) to the stomach. People feel as though food or liquids become... read more .

Spinal cord damage can cause severe problems, typically involving the bowels, bladder, and legs. Problems include

Other problems, such as clubfoot Clubfoot and Other Foot Defects Clubfoot (talipes equinovarus) is a birth defect in which the foot and ankle are twisted out of shape or position. Birth defects, also called congenital anomalies, are physical abnormalities... read more , arthrogryposis Arthrogryposis Multiplex Congenita Arthrogryposis multiplex congenita refers to a group of rare disorders that develop in the womb and cause many joints to become "frozen" in position. Birth defects, also called congenital anomalies... read more (joints, usually ankles, that become frozen and cannot bend), a dislocated hip Developmental Dysplasia of the Hip Developmental dysplasia of the hip is a birth defect in which the bones in the hip are incorrectly developed. Birth defects, also called congenital anomalies, are physical abnormalities that... read more , or an abnormally curved spine (kyphosis Kyphosis Kyphosis is an abnormal curving of the spine that causes a humpback. (See also Overview of Bone Disorders in Children.) The upper back normally curves forward somewhat. Some children have a... read more ), may also be present at birth.

Many neural tube defects can be detected before birth with prenatal screening tests Screening of the Pregnant Woman 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 . A high level of alpha-fetoprotein in a pregnant woman's blood or in amniotic fluid may indicate a neural tube defect in the fetus. So during the 2nd trimester, blood tests Second-Trimester Screening 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 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) may be done to measure these levels.

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 may show the defect or characteristic abnormalities.

After birth, some defects are obvious during the physical examination. If newborns have abnormalities that suggest occult spinal dysraphism, ultrasonography Ultrasonography Ultrasonography uses high-frequency sound (ultrasound) waves to produce images of internal organs and other tissues. A device called a transducer converts electrical current into sound waves... read more or magnetic resonance imaging 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 (MRI) is done to check for defects in the spine. X-rays Plain X-Rays X-rays are high-energy radiation waves that can penetrate most substances (to varying degrees). In very low doses, x-rays are used to produce images that help doctors diagnose disease. In high... read more may also be done.

After spina bifida is diagnosed, tests to evaluate bladder function are done. They include urinalysis Urinalysis and Urine Culture Urinalysis, the testing of urine, may be necessary in the evaluation of kidney and urinary tract disorders and can also help evaluate bodywide disorders such as diabetes or liver problems. A... read more , urine culture Urinalysis and Urine Culture Urinalysis, the testing of urine, may be necessary in the evaluation of kidney and urinary tract disorders and can also help evaluate bodywide disorders such as diabetes or liver problems. A... read more , blood tests, and ultrasonography.

With appropriate care, most children do well. However, complications, such as loss of kidney function and problems with shunts Treatment 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 needed to treat hydrocephalus, may occur and sometimes cause death in older children.

All women of childbearing age who have not had an infant with a neural tube defect should consume 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 (folic acid) through diet or by taking a supplement and continue doing so 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-dose folate supplements beginning 3 months before getting pregnant and continuing through the first 3 months of pregnancy. Folate can reduce the risk of neural tube defects by as much as 75%.

Health care practitioners, usually a team of specialists (including a neurosurgeon, a urologist, a pediatrician, a pediatric rehabilitation medicine specialist, an orthopedic surgeon, a physical therapist, a nurse practitioner, and a social worker), evaluate the type and severity of the defect and talk to the family about how treatment and care can be implemented.

Neural tube defects are usually closed surgically. Certain defects, such as a myelomeningocele, are typically repaired soon after birth.

Problems with the bladder, bones, or muscles and other problems are treated as needed.