trisomy testing

Trisomy testing involves analyzing a pregnant person's blood or cells from the placenta or fetus to detect extra chromosomes, which can cause genetic conditions like Down syndrome (trisomy 21). These tests, such as non-invasive prenatal testing (NIPT) or more invasive procedures like amniocentesis, measure specific genetic markers to assess the risk of these conditions. While they can indicate increased likelihood, they are screening tools and do not provide a definitive diagnosis. If a risk is identified, further diagnostic testing is usually recommended to confirm the presence of an extra chromosome.