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

natal tests, a true collision is on its way," says Skotko. "More women will be going through the testing process, which could lead to a lot of difficult, uncomfortable conversations between physicians and expectant parents."

In anticipation of these tests, which could make Down syndrome the first genetic condition to be definitively diagnosed in the first trimester on a population basis, Skotko calls on the medical community to:

  • Develop guidelines around how health professionals should deliver a diagnosis of Down syndrome.

  • Assemble information packets that give accurate, current information on Down syndrome and give them to all expectant parents who receive a definitive diagnosis.

  • Create a standardized training program for all healthcare professionals involved in prenatal care and for volunteer parents such as those involved in First Call programs to complete.

  • Train not only the doctors of today but the doctors of tomorrow. Medical students, nurses and genetic counselors should be educated beyond the textbook and have interactions with people who have Down syndrome so that they may better understand the realities of living with the disorder.

Recently, the National Down Syndrome Society and the National Down Syndrome Congress announced the selection of a booklet ("Understanding a Prenatal Down Syndrome Diagnosis") as a gold standard packet of information about Down syndrome, fulfilling Skotko's second recommendation.

"The ultimate goal is to ensure families receive accurate, up-to-date, information so they are well-informed and can make decisions that are right for them," says Skotko.


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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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