The tendency for sibs affected by non-syndromal neural tube defect (NTD) to have the same type of lesion was assessed retrospectively in a series of 66 affected sibships from the west of Scotland. Different schemes were used to classify the lesions: in the simplest classification into either anencephaly (including anencephaly-spina bifida) or spina bifida there was a tendency for spina bifida t...

BACKGROUND Open neural tube defects are among the most common malformations of the fetus. Secondary prevention by early diagnosis during pregnancy and abortion of affected fetuses result in a marked reduction of NTD incidence at birth. The dramatic effect of folic acid for primary prevention of these defects led to recommendations for folic acid supplementation in women of reproductive age. O...

Neural tube defects (NTDs) are one of the commonest malformations seen in pediatric surgical practice.They form a spectrum of disease ranging from anencephaly to spina bifida occulta. NTDs are devastating conditions as most of the lesions (myelomeningoceles, myelocele etc.) are always associated with neurological deficits producing varying degree of limb paresis/paralysis, bladder and anorectal...

Using data from a recent case-control study, a woman's risk of having a child with a neural tube defect (NTD) was found to be associated with early pregnancy red cell folate levels in a continuous dose-response relationship. These findings were used to calculate the reduction in NTD cases that would be expected under two different strategies to raise folate levels. Targeting high-risk individua...

Neural tube defects (NTDs) are common, severe congenital malformations whose causation involves multiple genes and environmental factors. Although more than 200 genes are known to cause NTDs in mice, there has been rather limited progress in delineating the molecular basis underlying most human NTDs. Numerous genetic studies have been carried out to investigate candidate genes in cohorts of pat...

Background: Gastroschisis is a congenital malformation characterized by the extrusion of the fetal bowel during intrauterine life, secondary to a defect in anterior abdominal wall. Objective: To establish an experimental model of gastroschisis in fetuses of rats exposed to acetylsalicylic acid (ASA), during pregnancy. Methods: Wistar rats were treated with an oral single ASA dose of 50, 500, 75...

Spondylocostal dysplasia (Jarcho-Levin syndrome) comprises multiple malformations of the vertebrae and ribs coupled with a characteristic clinical picture of short neck, scoliosis, short trunk, and deformity of the rib cage. We describe a patient with the syndrome who also had spina bifida and diastematomyelia. We surmise that this association is not coincidental. Additional evidence is needed ...

Neural tube closure defects (NTDs), in particular anencephaly and spina bifida, are common human birth defects (1 in 1000), their genetics is complex and their risk is reduced by periconceptional maternal folic acid supplementation. There are > 60 mouse mutants and strains with NTDs, many reported within the past 2 years. Not only are NTD mutations at loci widely heterogeneous in function, but ...

Neural tube defects (NTDs), such as exencephaly and spina bifida, occur when the neural tube fails to close properly during embryonic development. Folic acid supplementation has been shown to effectively reduce the occurrence of NTDs and low folate is a known risk factor for human NTDs. However despite extensive research, the mechanism explaining how the folate status affects the incidence of N...

Major congenital anomalies occur in 2% to 3% of live births. Neural tube defects (NTDs), cleft lip and palate, and cardiac anomalies are some of the most common. NTDs are a group of serious birth defects that affect the developing nervous system and include anencephaly, spina bifida, and encephalocele. Birth records suggest that about 2500 babies with these birth defects, or 1 to 2 per 1000, ar...