10 Essential Facts About the MTHFR Mutation

5. Neural Tube Defects

Women with some MTHFR mutations have an increased risk of having a baby with a neural tube defect, a birth defect that occurs during the development of the fetal brain and spinal cord. One of the most common types of neural tube defects is anencephaly, a condition in which parts of the brain or skull do not fully develop. Another condition that might result is spina bifida, when the spinal column does not completely close around the nerves of the spinal cord. This malformation leaves a part of the spinal cord sticking out and causes permanent damage.