Open Neural Tube Defects

An Open Neural Tube Defect refers to the abnormal formation of the neural tube during embryonic development. During neurulation, the neural tube, which gives rise to the brain and the spinal cord, folds and gradually closes on itself in order to permit normal formation of neural tissue. In about one in 1000 pregnancies, the neural tube does not close fully, creating a range of defects that have a dramatic effect on the fetus.

Diagnosis:

These defects range from spina bifida occulta, an open segment near the lower back that is usually of no clinical significance, to more severe spina bifida syndromes, which may affect walking and urinary functions, as well as a Chiari malformation and lead to hydrocephalus. The most severe of neural tube defects is anencephaly, in which case the neural tube is open at the caudal region, where the brain forms. Maternal Serum Screening Tests can help detect open fetal defects.

Open Neural Tube Defect Detection Value:

The incidence of neural tube defects has been steadily decreasing around the world since the role of folic acid in the formation of the neural tube has been elucidated. Pregnant women and especially women who plan to become pregnant should supplement their diets with folic acid to reduce the chances of having a child with a neural tube defect. Since neurulation occurs so early in pregnancy, women may often not know that they are pregnant when this ocurs. It is, therefore, important that there be a source of folate in the diet of all women of reproductive age. Programs exist in many developed countries for the supplementation of certain common foods, such as flour, with folic acid. Our institute is involved with the World Health Organization to promote such supplementation in countries, where no such programs exist at the present time.

Our physicians will outline with you a set of diagnostic tests when there is an increase risk of an open fetal defect.

Next Steps:

If you are interested in a RGI's Open Neural Tube Defect Detection your next step should be:

• Contact a genetic counselor at 773-472-4900