What should I do if I am at high risk for neural tube defects after the Down syndrome screening?

Patient's question:

My colleague had a child a few years ago. When he was born, he was healthy and there was nothing special about him; he was particularly well-behaved. However, in the previous year, it was discovered that his child had a high risk of neural tube defects based on the Down syndrome screening. I want to know what a high risk of neural tube defects from Down syndrome screening is and what should be done in such a case.

Doctor's answer:

Prenatal Down syndrome screening can identify the risk of Down syndrome and neural tube defects. The higher the risk, the greater the likelihood of developing these conditions. However, Down syndrome screening is not a definitive diagnostic method. If high-risk results are detected, amniocentesis is typically performed to confirm the diagnosis. In some cases, high-risk Down syndrome results are confirmed, and terminating the pregnancy can prevent the birth of a child with Down syndrome or a neural tube defect.

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