Delivering a diagnosis ...

This past weekend, I had the opportunity to attend a Down syndrome conference. I lurve Down syndrome conferences. I have attended several of the national conventions, but this was my first time attending a local conference. It didn't disappoint.

The day started out with J. Frank Stephens giving an amazing keynote speech. He started out telling jokes and wanted everyone to know how much he loves his life. I cried. If his speech could be shown on national television to promote awareness ... it would be a great day.

The second keynote speaker was Brian Skotko. Equally amazing. He is such a great advocate for our kids ... and his sister.

I attended three sessions, the first of which was Delivering a Diagnosis to New and Expectant Parents, by Brian Skotko.  

Dr. Skotko will present the results of his research on how physicians deliver a prenatal and postnatal diagnosis of Down syndrome. The presentation includes highlights from his publications in Pediatrics and American Journal of Obstetrics and Gynecologies and includes “take-home” recommendations on how physicians can more effectively and compassionately deliver difficult news to new and expectant parents.

I attended this session with the intent of getting more information on how to reach out to our medical community. A friend and I are taking over this task for our local group and we are trying to figure out the right way to go.

Dr. Skotko talked about the two upcoming prenatal tests for Down syndrome.

• Allele Ratio Analysis ... Simple blood test, no risk to the fetus. Accuracy: data questioned. Eligibility: data questioned. Timing: performed as early as 12 weeks gestation. Availability: perhaps as early as this year. Cost: List price of $2,000; real cost for insurers about $700; less expensive than CVS or amniocentesis. Large-scale trial launched: 10,000 pregnant women, 30 worldwide clinical sites, results available after product made available. Limitations: not reliable for detection of translocation or mosaicism.
• Shotgun Sequencing ... Risk: simple blood test, no risk to the fetus. Accuracy: so far, 100% sensitive, but data small sample sizes. Eligibility: 100% of the population will be eligible for the test. Timing: performed as early as 10 weeks of gestation. Availability: only in research labs right now. Cost: about $700, less expensive than CVS or amniocentesis. Advantages: possible detection of translocation or mosaicism.

The thing I thought was so interesting about the Allele Ratio Analysis is that it cannot reliably detect translocation or mosaicism. Payton has Translocation Down syndrome, so in my case ... had I had this test ... it would not have been detected.

My problem is this ... parents are going to be told that they are having bloodwork done to see if their unborn child has Trisomy 21. Are doctors then ... at that point ... going to explain the three types of Down syndrome to parents and also explain that the test will not detect translocation and mosaicism? I doubt it.

And this remains the underlying problem ... parents are not being educated to the full extent when they are presented with a prenatal diagnosis of Down syndrome. One way or another.

National guidelines have been set so that expectant mothers are able to make informed decisions. They should receive non-directive counseling, accurate information, up-to-date information and balanced information.

Yet, 81% of medical of medical students report they "are not getting any clinical training regarding individuals with Down syndrome"; 58% of medical school deans say such training is not a high priority; 45% of ACOG fellows and junior fellows rated their residency training as "barely adequate or nonexistent"; and only 28% of ACOG fellows felt "well qualified" in prenatal genetic counseling.

Niiice.

In June 2009, a meeting between the ACMG, ACOG, NSGC, NDSS and NDSC was held to bring medical professionals toward concurrence in understanding prenatal screening and diagnosis of Down syndrome. Recommendations were published for prenatal and postnatal diagnosis ... and now the question is -- how can we get these recommendations to our local medical professionals and will they be receptive?

What can you do?

*Tell your medical professionals about www.brighter-tomorrows.org ... an interactive online simulation that asks medical professionals to view virtual patient-doctor sessions and provide responses to questions and situations.

*Take part in the First Call Program in your local community ... or start the program if it hasn't already been started.

*Reach out to medical schools -- especially genetics classes -- and those that are doing their residency ... ask to speak to them while they are still in training.

*Serve on hospital committees.

*Write letters to your obstetrician, keeping them updated on your child's life -- show them it is not all gloom.

All research review papers referenced here can be found on Dr. Skotko's website. You can also find a podcast of this session here.