Abstract
Neural tube defects (NTDs) are among the most common major congenital abnormalities with a prevalence rate of approximately 1 per 1000 births, although it varies significantly according to geographical location. NTDs represent the first congenital malformations shown to be preventable through simple public health measures. Ensuring adequate periconceptional folic acid intake prevents both occurrence and recurrence of a significant proportion of NTDs, but distinguishing folate resistant NTDs is not yet possible. Despite improvements in the prenatal screening, diagnosis and management of NTDs, antenatal prediction and prevention of neurological disabilities after birth remains difficult, with over one-third of long-term survivors continuing to require daily care. Ultrasound examination has virtually replaced amniotic fluid AFP and cholinesterase measurement for the diagnosis of NTDs. Emphasis now should be on primary prevention, early detection and prevention of long-term morbidity. Effective prenatal diagnosis and proper genetic counselling provides parents with a variety of options that may be appropriate for their individual situation.
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