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Tuesday, 6 December 2011

Prenatal diagnosis: a broader perspective

This series of three well considered articles was published on Sunday (4th December 2011) by the Columbus Dispatch (from Columbus, Ohio), under the collective heading Down Syndrome Testing.  It takes a much broader survey of the complex scenario of prenatal diagnosis of Down syndrome, the whole range of ways in which parents and professionals might respond, and the information and support available.  It is a stark contrast to the article we blogged about yesterday. Links to the individual parts are all available from the lead page, and are headed:

A chosen child - after prenatal testing, Short North couple embraces the future
Down syndrome: thorny choice - new, less risky procedure increases moral quandary
A fair share? Advocates, genetic scientists say that other medical, developmental conditions receive much more attention, financial support

If you choose to read the comments (not always a good idea!), you will see that at least one person questions the evidence for the reference to high termination rates after prenatal diagnosis.  Here is a recent paper (published February 2011) that explains what is known, and where those statistics come from, in the US:
Demographic differences in Down syndrome live births in the US from 1989 to 2006 .

This 2008 paper provides an analysis of birth statistics in Victoria:
Is Down Syndrome a disappearing birth defect?
(the abstract only is currently available online - contact the Down Syndrome NSW library if you would like to arrange access to a copy of the full text)

The recent clinical release of a new non-invasive diagnostic prenatal test for Down syndrome (performed on a blood sample from the mother) in 20 US cities has stimulated much discussion in the Down syndrome community and the media generally. Boston geneticist and writer, Dr Brian Skotko, is often quoted on these matters - here is an article he wroter earlier this year:
Will babies with Down syndrome slowly disappear?

The final word today goes to Pamela Wilson, BellaOnline's Children with Special Needs Editor:
My son is a much better ambassador for the Down syndrome community than I will ever be, just being himself and interacting with people one by one. I believe that if everyone in the world had the chance to spend a few days with him, he would put Sequenom (the company that has released the new test first) out of business. But he has plans of his own, so it's up to others to make expectant parents aware of the real choices they have after Sequenom sells them and their medical providers the test.

Your comments are welcome, as always ...

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