Archives of Disease in Childhood 2009;94:823-826
LEADING ARTICLE
With new prenatal testing, will babies with Down syndrome slowly disappear?
Children’s Hospital Boston & Boston Medical Center, Boston, Massachusetts, USA
Correspondence to Brian Skotko, Children’s Hospital Boston, 300 Longwood Ave, Boston, Massachusetts 02115, USA; Brian.Skotko@childrens.harvard.edu
Accepted 1 June 2009
| The first 150 words of the full text of this article appear below. |
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 3 4 5 6 7
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View this table: Table 1 Down syndrome detection rates with screening tests (using 5% false positive rate)
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