Neural tube defects are typically diagnosed at the early stages of pregnancy. During pregnancy a maternal serum triple test is carried out. The test uses a blood sample from the mother to screen for fetal abnormalities and neural tube defects. A test showing higher levels of alpha-fetoprotein (AFP) increases the chances of neural tube defects. Additionally, a fetal ultrasound may be done to try to determine whether the fetus has any visible abnormalities. Amniocentesis is also done when the maternal serum triple test indicates a high level of AFP.

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