Fetuses with neural tube defects (NTDs) may be associated with syndromes, disorders, and maternal and fetal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal and fetal risk factors associated with NTDs, such as omphalocele, OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex, pentalogy of Cantrell, amniotic band sequence, limb-body...

OBJECTIVE Neural tube defects (NTDs) are the most common congenital defects of central nervous system due to neural tube closure deficit during the third and fourth weeks of gestational age. Our study was performed to detect the incidence and risk factors of NTDs in Kashan, center of Iran. MATERIAL & METHODS This case-control study was done on all pregnancies with NTD affected neonates (n=91)...

Genetic polymorphisms are thought to play an important role in determining susceptibility to neural tube defects (NTDs), for example between different ethnic groups, but the embryonic manifestation of these polymorphic genetic influences is unclear. We have used a mouse model to test experimentally whether polymorphic variations in the pattern of cranial neural tube closure can influence suscep...

Cystathionine beta synthase gene (CβS) catalyzes the condensation of homocysteine with serine, forming cystathionine by the transsulfuration pathway. Disruption of CβS enzyme activity due to defective folic acid metabolism increases the risk factor for neural tube defects. We evaluated the CβS gene mutation in 25 children with neural tube defects (NTDs), including lumbosacral and thoraci...

Failure of neural tube closure leads to neural tube defects (NTDs), common congenital abnormalities in humans. Among the genes whose loss of function causes NTDs in mice, Grainyhead-like3 (Grhl3) is essential for spinal neural tube closure, with null mutants exhibiting fully penetrant spina bifida. During spinal neurulation Grhl3 is initially expressed in the surface (non-neural) ectoderm, subs...

Neural tube defects (NTDs) are a class of birth defects characterized by defective closure of the neural tube during the first month of gestation. Reports from six states during the period of 1985-1994 demonstrated that the rate of NTDs in the United States varies by geographical area and by race/ethnicity. The reported rate ranged from 3.8 to 9.6 per 10,000 live births (CDC, ‘95). Recent epide...

Maternal fever and neural tube defects c Maternal hyperthermia during the first trimester seems to contribute to an increased risk for neural tube defects (NTDs). Animal studies in the 1980s suggested that fever might lead to NTDs; in humans, however, this association was harder to confirm. A case-control study was undertaken to investigate an epidemic of NTDs near the Mexican border in Texas. ...

DNA methylation is thought to be involved in the etiology of neural tube defects (NTDs). However, the exact mechanism between DNA methylation and NTDs remains unclear. Herein, we investigated the change of methylation in mouse model of NTDs associated with folate dysmetabolism by use of ultraperformance liquid chromatography tandem mass spectrometry (UPLC/MS/MS), liquid chromatography-electrosp...

With a birth prevalence of 1 in 1000, neural tube defects (NTD)s contribute considerably to morbidity and healthcare costs. Known genetic and environmental (noninherited) risk factors for NTDs account for a small portion of risk, suggesting unidentified risk factors. In animal studies, maternal alcohol and pesticide exposures, independently, led to excess neural cell death, resulting in too few...