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Prenatal screening and diagnosis of neural tube defects

Lauri Hochberg, MD
Joanne Stone, MD
Section Editors
Louise Wilkins-Haug, MD, PhD
Deborah Levine, MD
Deputy Editor
Vanessa A Barss, MD, FACOG


Neural tube defects (NTD) are the second most prevalent congenital anomaly worldwide, second only to cardiac malformations [1]. Three factors have played a significant role in the assessment and prevention of NTDs:

Widespread use of maternal screening programs to identify affected pregnancies

Sonographic imaging with or without amniotic fluid testing for diagnosis of affected fetuses

Food fortification and periconceptional administration of folic acid for prevention

Prenatal screening and diagnosis of NTDs will be reviewed here. Prevention of NTDs is discussed separately. (See "Folic acid supplementation in pregnancy".)


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Literature review current through: Feb 2017. | This topic last updated: Jul 11, 2016.
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