AIA - Mark Leach – Why Your Group Should Have A Medical Outreach Program And What You Can Be Doing Right Now

This was a great session

American College of Obstetrics and Gynecology said that everyone regardless of age should get prenatal testing. Doctors changed their behavior to reflect this.

All doctors are offering screening tests to all women in the first trimester. This is the new standard of care. Reason given is “providing the patient with the potential for earlier diagnosis and safer treatment options”

There are a wide range of tests offered and Mark talked about all of them. Sequential screening is presently 95% accurate, Integrated testing is 96% accurate. All key off of the NT screening for reliability factors.

Only way to know for sure is Amniocentesis or CVS. England estimated 2 unaffected fetuses miscarried for every 3 diagnoses with DS. America, Estimated 3 unaffected fetuses miscarried for every live birth of DS.

All of these tests may be irrelevant because of Sequenom. They claim to be working on a non-invasive diagnostic test. The market judges a demand for this test. They mishandled the data, and stock price dropped and SEC investigation took place. They got rid of key people and got sued, etc. settled with shareholders. If they get it to market it will change forever the way pregnant women are tested for DS. Other labs are developing tests.

Pre-implantation genetic diagnosis another trend. Down syndrome is the tip of the iceberg – they will look for Fragile X, William’s Syndrome, etc.

Mother’s with prenatal DX who had pretnatal DX had a better experience. Upside is those moms that continue are wonderfully prepared.

Studies are conflicting as to if there are more or fewer births with children with DS in the US?

California study: Half screen positive oped for amino. At least 61.4% had an elective termination. 1326 expected number of live born DS. 711 live births.

More pregnancies with Children with Down syndrome – more born than historically, but still not as many born as you would expect due to the larger number of mothers of advanced material age.

This is an information issue, not a termination issue.

On the woman’s side…issues with deciding to undergo prenatal testing. Prenatal testing is presented as routine and not requiring an active decision by the patient.

Medical Outreach is KEY. Informed Decision Making Task Force is great. Nancy from the DS Pregnancy board and Janet Gora are on the committee. This is a GREAT group and looking for more outreach…

ACOG Practice Bulletin #88. After the dx of a chromosomal abnormality, people should get accurate information to the patient. They should get this. We want to keep them within their standard of care. Refer to local or national parent support organizations.

We aren’t pro-life/pro-choice, just all about helping them get the best information.

Where is the 80-90% of the termination rate coming from?

How many women if you get a screen positive do not go on to get an invasive test.? In the California study HALF do not get the invasive test.

Looks like the coasts have a much higher termination rate, can be as low as 50% based on little studies of small areas.

Kennedy Brownback bill signed into law in 2008. Purpose to increase referral to support services, provide up to date information about conditions, ensure patients receive information about the accuracy of test. Now it has to be funded.

A woman attending the session told of a genetics specialist in her area who not telling balanced information about DS to her patients, and referring to other states for termination. Mark presented some great information about research based information about the positive things that go along with DS.

Interesting study that shows women and men who terminate because of DS have high levels of post traumatic stress symptoms and symptoms of depression.

For Affiliates – make medical outreach a priority – have a board/staff member responsible for medical outreach, designate funds from fundraisers, check out the beautiful materials at http://canisterbooks.com/outreachprogram.php for start up information.

As Mark said - Cincinnati has the best materials!

www.brightertomorrows.org (Spanish translation available)
www.brighter-tomorrows.net (physician portal)

http://canisterco.com/books/index.html this is the best, gold standard book
http://giftsds.segulllah.org/

Parent advocacy groups really matter when it comes to this subject!