We do not routinely see patients with an isolated neural tube defect in the Genetics service. However, if there are additional features which might suggest an underlying genetic syndrome, or a family history of close relatives who are affected with a neural tube defect, then referral to Clinical Genetics may be appropriate.
Women who have had a previous pregnancy affected by a neural tube defect, or have a family history of a neural tube defect, are advised to take high dose folic acid (5mg), which can be prescribed by their GP. This can significantly reduce the chance of having another baby with a neural tube defect.