Journal
NATURE REVIEWS DISEASE PRIMERS
Volume 1, Issue -, Pages -Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nrdp.2015.7
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Funding
- Wellcome Trust [087525]
- Eunice Kennedy Shriver National Institute of Child Health and Human Development, US National Institutes of Health [U10 HD041666, P01 HD35946, R01-HD048629]
- March of Dimes Foundation [12-FY13-271]
- Joint Medical Research Council-Wellcome Trust Human Developmental Biology Resource [099175]
- MRC [G0801124, G0700089, MC_PC_15004] Funding Source: UKRI
- Medical Research Council [MC_PC_15004, G0801124, G0700089] Funding Source: researchfish
- Sparks Charity [09ICH01] Funding Source: researchfish
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Spina bifida is a birth defect in which the vertebral column is open, often with spinal cord involvement. The most clinically significant subtype is myelomeningocele (open spina bifida), which is a condition characterized by failure of the lumbosacral spinal neural tube to close during embryonic development. The exposed neural tissue degenerates in utero, resulting in neurological deficit that varies with the level of the lesion. Occurring in approximately 1 per 1,000 births worldwide, myelomeningocele is one of the most common congenital malformations, but its cause is largely unknown. The genetic component is estimated at 60-70%, but few causative genes have been identified to date, despite much information from mouse models. Non-genetic maternal risk factors include reduced folate intake, anticonvulsant therapy, diabetes mellitus and obesity. Primary prevention by periconceptional supplementation with folic acid has been demonstrated in clinical trials, leading to food fortification programmes in many countries. Prenatal diagnosis is achieved by ultrasonography, enabling women to seek termination of pregnancy. Individuals who survive to birth have their lesions closed surgically, with subsequent management of associated defects, including the Chiari II brain malformation, hydrocephalus, and urological and orthopaedic sequelae. Fetal surgical repair of myelomeningocele has been associated with improved early neurological outcome compared with postnatal operation. Myelomeningocele affects quality of life during childhood, adolescence and adulthood, posing a challenge for individuals, families and society as a whole. For an illustrated summary of this Primer, visit: http://go.nature.com/fK9XNa
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