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Understanding the implications of prenatal testing for Down syndrome
Date:9/14/2009

Boston, Mass. With new prenatal tests for Down syndrome on the horizon promising to be safer, more accurate, and available to women earlier in pregnancy, the medical community must come together and engage in dialogue about the impact of existing and expected tests, argues a new leading article published Online First by Archives of Disease in Childhood. Authored by Brian Skotko, MD, MPP, clinical genetics fellow at Children's Hospital Boston, the article shows a steady decrease in the number of babies being born with Down syndrome since the introduction of prenatal testing and poses the question: "As new tests become available, will babies with Down syndrome slowly disappear?"

Research reviewed by Skotko showed a 15% decrease in births of babies with Down syndrome between 1989 and 2005 in the United States. In the absence of prenatal testing, researchers would have anticipated the opposite a 34% increase in births due to the trend of women waiting longer to have children; known to increase the chances of having a baby with Down syndrome.

Currently, expectant women have two options if they would like to receive a definitive diagnosis of Down syndrome chorionic villus sampling (CVS) and amniocentesis both of which are invasive and carry a risk, however small, of causing a spontaneous miscarriage. New tests expected to be introduced next year will offer a simple blood test that poses no risk to the fetus and delivers a definitive diagnosis of one or more of the genetic variants of Down syndrome - trisomy 21, translocation, or mosaicism.

Prior research conducted by Skotko found that expectant mothers who received a prenatal diagnosis felt their physicians provided them with incomplete, inaccurate, and oftentimes offensive information about the condition. Other studies have shown physicians themselves feeling unprepared and uninformed to deliver a diagnosis.

"Unless improvements are made prior to the arrival of new pre
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Contact: Keri Stedman
keri.stedman@childrens.harvard.edu
617-919-3114
Children's Hospital Boston
Source:Eurekalert

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