edward lammer, md
In Memoriam
An Overview
Birth Defects Study
Conotruncal Heart Defects
Orofacial Clefts
Neural Tube Defects
Retinoic Acid Embryopathy
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Neural tube defects

Neural tube defects (NTDs) are common, costly, and often fatal human congenital anomalies of the nervous system whose causes remain largely unknown. The frequency of NTDs varies from approximately 0.8/1,000 births in most areas of the US to 3.5/1,000 in Mexico. Anencephaly and spina bifida are the most common forms of NTDs and result from failure of the neural tube to close properly in the developing brain or lower spine, respectively. Infants with anencephaly are stillborn or die shortly after birth, whereas many infants with spina bifida survive, but typically have severe, life-long disabilities. Over 20 years of clinical investigation and studies with mouse NTD models indicate that these malformations probably arise from a combination of factors, including genetic and environmental causes and gene-environment interactions. The most promising clue to the causes of NTDs, however, is that women who use vitamins containing folic acid periconceptionally (prior to and early in pregnancy) have a substantially lower risk for NTD-affected pregnancies, in both the developed and developing countries.

Recent publication:
Marini NJ, Hoffmann TJ, Lammer EJ, Hardin J, Lazaruk K, Stein JB, Gilbert DA, Wright C, Lipzen A. Pennacchio LA, Carmichael SL, Witte JS, Shaw GM, Rine J. A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis. PLoS One 2011; 6(11):e28408. Epub 2011 Nov 30. PMID: 22140583.

Revised: Thursday, September 1, 2016 3:59 PM


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