I am 18+1 weeks for the Down syndrome screening and have two high-risk items, what should I do?

Patient's question:

I was 18+1 weeks for the Down syndrome screening and had two high-risk results. About my previous treatment history and effectiveness: The doctor recommended genetic counseling and prenatal testing. What kind of help do you need? I want to have a child. Can you give me many suggestions?

Doctor's answer:

The Down syndrome screening is mainly used to assess the risk of the fetus having Down syndrome (also known as trisomy 21). If the risk is high, there is no need to be overly anxious, as the screening is only a probabilistic result with a diagnostic accuracy of about 65%. If the risk is indeed high, it is best to undergo amniocentesis to rule it out. I'm not sure which specific risk factor you have, or how high the risk value is. If the risk is truly elevated, it would be advisable to consult a genetic counselor and consider amniocentesis. Don't hurry, as many high-risk results from the screening still result in normal children.

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