This medical video focuses on the new way to detect down syndrome at an earlier stage.
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Jennifer Mathews: He's a healthy 4-year old, and Griffin Gonzales's mom, Amy, knew he would be just weeks after she was pregnant. Amy: It was very reassuring. I think it really helped us enjoy the rest of the pregnancy knowing that everything looked good. Jennifer Mathews: Amy took part in a national study to test a new way to detect the genetic disorder Down Syndrome. The new technique combines an ultrasound and a blood test and gives women results in just 11 weeks. Currently, women have a blood test at 16 weeks, then choose whether to have riskier follow-up tests like an amniocentesis. Screening five weeks earlier allows them to decide whether to have more testing sooner and what to do if something is wrong. Dr. David Luthy: Now, at 11 to 12 weeks of pregnancy, a diagnostic test could be done and within 24 hours, they could have preliminary results. Jennifer Mathews: In the study, the new screening correctly identified 87 percent of fetuses likely to be born with Down Syndrome. The standard blood test only identified 81 percent. Amy also had the new screening with her second pregnancy. And she says she'd definitely have it again. Amy: I just think this is a great, non-invasive screening test that gives you a lot of information without putting any risk. Jennifer Mathews: And she says it put her worries to rest sooner. This is Jennifer Mathews reporting.