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With new prenatal testing, will babies with Down syndrome slowly disappear?
  1. Brian G Skotko (brian.skotko{at}
  1. Children's Hospital Boston & Boston Medical Center, United States


    An expansive menu of prenatal tests for Down syndrome (DS) is already available to pregnant women around the globe, but new tests are likely to become the most popular entrées. Presently, pregnant women can choose among the many prenatal screening tests—triple screen, quadruple screen, first-trimester combined screen, stepwise sequential screens, and fully integrative screens—to receive statistical chances that their fetuses have DS, to varying degrees of detection (Table 1).1 For a definitive prenatal diagnosis of DS, however, women currently have just two options, both of which are invasive: chorionic villus sampling (CVS), generally performed between 9 and 12 weeks of gestation, and amniocentesis, traditionally offered between 15 and 20 weeks of gestation. By nature of being invasive, both of these diagnostic tests carry small, albeit real, risks of spontaneous abortions.2-7

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