Neural tube defect

A developmental failure affecting the spinal cord or brain of the embryo. The most serious defect is anencephaly (total lack of a brain), which is fatal. More common is spina bifida, in which the vertebrae do not form a complete ring around the spinal cord. Spina bifida can occur anywhere on the spine, but it is most common in the lower back. There are different forms of spina bifida. In spina bifida occulta, the only defect is a failure of the fusion of the bony arches behind the spinal cord, which may not cause any problems. When the bone defect is more extensive, there may be a meningocele, a protrusion of the meninges, or a myelomeningocele, a malformation of the spinal cord. Myelomeningocele is likely to cause severe handicap, with paralysis of the legs, loss of sensation in the lower body, hydrocephalus, and paralysis of the anus and bladder, causing incontinence. Associated problems include cerebral palsy, epilepsy, and mental handicap. Surgery is usually performed a few days after birth. In mild cases, the defect can usually be corrected, but in myelomeningocele, some handicap will remain. Genetic factors play a part in neural tube defects, which show multifactorial inheritance. Couples who have had an affected child or who have a family history of neural tube defects should seek genetic counselling. The risk of a neural tube defect occurring can be substantially reduced if the mother takes folic acid supplements for a month before conception and during the early part of the pregnancy. Ultrasound scanning and amniocentesis allow accurate antenatal testing for neural tube defects.