The etiology underlying neural tube defects (NTDs) is not fully understood and is believed to involve a complex milieu of genetic and environmental factors. The A1298C polymorphism in the methylenetetrahydropholate reductase gene (MTHFR) has been associated with mild risk for NTDs. In this study, the genotype distribution of the MTHFR gene A1298C polymorphism and the levels of serum homocystein...

To the Editor: Neural tube defects (NTDs) are relatively common congenital abnormalities. The prevalence in South Africa typically ranges from 1 to 3.5 per 1 000 births. Higher rates, 6.13 per 1 000 live births, have been recorded in rural Transkei. Epidemiological studies have shown that periconceptual dietary supplementation with folic acid can substantially decrease the prevalence of NTD. Th...

lower limbs and other major organ malformations.4 Complex dysraphic states due to aberrant integration of the notochord include split cord malformation (SCM) or diastematomyelia: a congenital spinal anomaly in which there is longitudinal splitting of the spinal cord.5,6 Causes of NTDs are multifactorial and defects in several different genes can underlie the genetic basis of this disease.1 Howe...

Key points Days 18–55 postconception is the time of maximal teratogenic potential when most organs are differentiating Teratogenic effects of medications may affect both organ structure and organ function Detailed ultrasound assessment of the fetus by trained personnel should detect most major structural abnormalities, but minor abnormalities are often undetected Patients at risk of neural tube...

BACKGROUND Maternal emotional stress during pregnancy has previously been associated with congenital neural malformations, but most studies are based on data collected retrospectively. The objective of our study was to investigate associations between antenatal maternal bereavement due to death of a close relative and neural tube defects (NTDs) in the offspring. METHODS We performed a registe...

OBJECTIVE To develop a new technique for assessing the risk of birth defects, which are a major cause of infant mortality and disability in many parts of the world. METHODS The region of interest in this study was Heshun County, the county in China with the highest rate of neural tube defects (NTDs). A hybrid particle swarm optimization/ant colony optimization (PSO/ACO) algorithm was used to ...

Preconceptual folic acid use is known to have a protective effect against neural tube defects (NTDs). This study assessed knowledge and determinants of awareness on folic acid use among pregnant women at Omdurman Maternity Hospital, Sudan during 2014. The standardized, anonymous questionnaire was used to collect data. Almost 80% of respondents had heard of folic acid. College-educated women (92...

Maternal markers are widely used to screen for fetal neural tube defects (NTDs), chromosomal abnormalities and cardiac defects. Some are beginning to broaden prenatal screening to include pregnancy complications such as pre-eclampsia. The methods initially developed for NTDs using a single marker have since been built upon to develop high performance multi-maker tests for chromosomal abnormalit...

Gene deletion-induced autophagy deficiency leads to neural tube defects (NTDs), similar to those in diabetic pregnancy. Here we report the key autophagy regulators modulated by diabetes in the murine developing neuroepithelium. Diabetes predominantly leads to exencephaly, induces neuroepithelial cell apoptosis and suppresses autophagy in the forebrain and midbrain of NTD embryos. Deleting the P...