Wednesday, 7 June 2017

Prenatal Diagnosis of Down Syndrome: Delivering Results in our New Age of Genetic Testing

A webinar version of a presentation by Dr Brian Skotko, Co-director, Down Syndrome Program, Massachusetts General Hospital, 16 December 2016 (62m 17s)
In this presentation, Dr. Brian Skotko reviews the latest advances in prenatal testing for Down syndrome. He further reviews the evidence-based research on how physicians can effectively deliver a prenatal and postnatal diagnosis of Down syndrome. The presentation includes highlights from his publications in Pediatrics, American Journal of Obstetrics and Gynecology, and American Journal of Medical Genetics.
Dr Skotko's approach is congruent with the DSi position statement:

Down Syndrome International: Position Statement on Prenatal Testing
... DSi asserts and defends the right of a woman (or a couple) to information about the human rights and potentialities of children with Down syndrome. 
DSi encourages a balanced and informed approach to the use of prenatal tests by government policies, the professionals involved and all family members. 
DSi contends that voluntary screening should be available to all pregnant women on request and the decision to undergo testing has to be made by the pregnant woman (or couple). 
BUT, that at the time of testing, easily understood information MUST be provided that is up-to-date ...
... This information MUST be provided in an unbiased way by well trained professionals who understand their ethical responsibilities as well as having good communications skills and up-to-date information. At the same time, potential parents should be directed to further sources of information ... read the whole statement here.

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