Genetics Northern California

Neural Tube Defects

The “neural tube” is another name for the structure that eventually develops into the brain and spine. The neural tube forms very early in pregnancy. It is completely formed about 5 weeks after conception (7 weeks from your last period). Neural tube defects (NTDs) are birth defects that happen when this part of the baby does not form correctly. About 1 or 2 out of every 1000 babies is born with a neural tube defect . Neural tube defects are not related to the age of the mother, and usually do not run in families. Folic acid is an important B vitamin that is helpful in preventing some neural tube defects.

Common types of neural tube defects:
Spina bifida: In spina bifida there is an opening along the baby's spine. This defect often causes paralysis or weakness of the legs. There may also be problems with bowel or bladder control, as well as other medical problems such as hydrocephalus (water on the brain). Children with spina bifida require surgery and may also need ongoing special medical care.

Anencephaly:  Anencephaly occurs when the brain and back of the skull are incomplete. These babies are often stillborn or die shortly after birth.

Detection of neural tube defects:
Many neural tube defects can be indentified during pregnancy by any of the screening tests offered through the California Prenatal Screening program and by ultrasound examination. Amniocentesis can also detect most neural tube defects. However, even with careful testing, not all neural tube defects can be diagnosed before birth.