BACKGROUND Neural tube defects (NTDs) are one of the most common birth defects caused by a combination of genetic and environmental factors. Currently, little is known about the genetic basis of NTDs although up to 70% of human NTDs were reported to be attributed to genetic factors. Here we performed genome-wide copy number variants (CNVs) detection in a cohort of Chinese NTD patients in order ...

BACKGROUND Birth defects are a major cause of infant mortality and disability in many parts of the world. Neural tube defects (NTDs) are one of the most common types of birth defects. In 2001, the Chinese population and family planning commission initiated a national intervention program for the prevention of birth defects. A key step in the program was the introduction of folic acid supplement...

OBJECTIVE To evaluate the effect of flour fortification with folic acid on the incidence of neural tube defects (NTDs) in babies. We also report the pattern of NTDs, and we compare it with those reported previously. METHODS All babies who were born with NTDs at King Abdul-Aziz University Hospital (KAUH), Jeddah, Kingdom of Saudi Arabia between 1997 and 2005 were included in the study. The inc...

Neural tube defects (NTDs) are a group of congenital malformations with worldwide distribution and complex etiopathogenesis. Folic acid plays a pivotal role in their prevention. We aimed to identify the protective effect of folic acid intake against NTDs and its dependence on different socioeconomic and environmental factors in a cohort of mothers in Egypt. A cross-sectional study was carried o...

Neural tube defects (NTDs) are severe malformations of the central nervous system, affecting 1 of 1,000 live births. Mouse models were instrumental in defining the signaling pathways defective in NTDs, including the planar cell polarity (PCP), also called noncanonical Frizzled/Disheveled pathway. Based on the highly penetrant occurrence of NTDs in double Fzd3/Fzd6(-/-) mutant mice, we investiga...

The purpose of this article is to describe the etiology of neural tube defects (NTDs) and the role of folic acid in their prevention. NTDs are all too common and devastating outcomes of many pregnancies. The brain and spinal cord malformations that develop during gestation in the NTD-affected pregnancies are expressed through various anomalies. Estimates by the Centers for Disease Control and P...

BACKGROUND Neural tube defects (NTDs) are among the most common birth defects in the United States. In 1996, the U.S. Preventive Services Task Force (USPSTF) recommended that all women planning a pregnancy or capable of conception take a supplement containing folic acid to reduce the risk for NTDs. PURPOSE To search for new evidence published since 1996 on the benefits and harms of folic acid...

The vacuolated lens (vl) mouse mutant causes congenital cataracts and neural tube defects (NTDs), with the NTDs being caused by abnormal neural fold apposition and fusion. Our positional cloning of vl indicates these phenotypes result from a deletion mutation in an uncharacterized orphan G protein-coupled receptor (GPCR), Gpr161. Gpr161 displays restricted expression to the lateral neural folds...

Periconceptional folic acid supplementation reduces the risk of neural tube defects (NTDs). To determine whether periconceptional exposure to folic acid antagonists (FAAs) might therefore increase the risk of NTDs, the authors examined data from an ongoing case-control study of birth defects (1979–1998) in the United States and Canada. They compared data on 1,242 infants with NTDs (spina bifida...