High Risk for Down Syndrome Screening: What Tests Should Be Conducted?

Question

What tests should be conducted if the Down syndrome screening result shows high risk?

Answer

When the Down syndrome screening result shows high risk, it does not necessarily mean that the individual has Down syndrome; it simply indicates an increased likelihood. At this point, doctors usually recommend conducting amniocentesis or chorionic villus sampling tests to directly analyze the fetus’s DNA or cells and provide a more accurate diagnosis. Amniocentesis is typically performed between the 16th and 20th weeks of pregnancy, while chorionic villus sampling is done earlier, between the 10th and 12th weeks. These tests can help determine if the fetus has Down syndrome or other chromosomal abnormalities.