Monday, March 15, 2010

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.


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 ... 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.


    1. Are these tests SCREENINGS or are the diagnostic?

    2. They are diagnostic ... the second test is 100% accuracy. That is why it is new research as compared to the screenings they have now ... people will have definitive answers - especially using the second test.

    3. HI Bethany! Thanks for stopping by my blog! I have a child with PDD (on the autism spectrum) so we have alot in common and I also conceived my children from IVF. So we have even more in common! :)
      I totally agree with medical students, peds and doctors (Schools too) need more education in special needs period. While it's true they have come a long way, there is even MORE to go!
      Great to meet you and I'll be back :)

    4. Love your idea to go talk to doctors - next year is our Ds society's 21st anniversary, and we're trying to come up with some great advocacy activities - this is awesome!

    5. Very interesting. And I agree with you on the first test... I mean as parents we would never have known that there were 3 types of DS if we hadn't had a child with DS and been exposed to all of this information. Its a very important note to make in regards to the blood test and a slippery slope for delivering a diagnosis. The second test however, very interesting to see the effects of this if and when it becomes available.

    6. Thanks for sharing this Bethany. I will be attending the MDSC Conference in Worcester, MA the 27th of March...and Dr. Skotko will be doing the same lecture. I'm still not sure how I feel about this "NEW" testing. I will be passing this info to Landon's pediatrician!!

    7. thanks for sharing! I learned alot of good points! So it is interesting that your daughter has translocation ds...since my sister in law had her baby last week born with down syndrome, the genetisist was more curious if ours was translocation, which we don't think it was, but the way we recieved the actual test info was a little confusing so we just requested a copy of the test. My neices test will take a few weeks but we have just been more curious about this translocation form now. Did your ds blood test say trisomy 21 or translocation or both? How did it define it on the test?

    8. Hey Kecia ... not sure how much research you have done, but now you have got me started. LOL! So like 4% or so of kids with DS have translocation and only 1/4th of those kids have it because it was genetic. The other 3/4 of them have it because it was a fluke. That is where Payton falls. After we got her karyotype back, both my husband and I were tested and neither of us are carries. BTW her translocation is 14:21, the most common.

      THAT SAID. I have a friend that has a daughter with translocation 21:21. Then she had a 2nd daughter with the exact same translocation, and I was told by Dr. Skotko that a parent in this situation would always have kids with DS, but I'm not sure about that so maybe I misunderstood him. This particular friend was tested and although her bloodwork did not show her or her husband as being carriers, you can be a carrier just in your reproductive organs and I think that is the case with them. It gets really confusing.

      Anyway, yeah, I'd be curious to see your daughter's karyotype as well as your SIL's baby. The results would say "Robertsonian Translocation" etc etc etc. Kids with translocation only have 46 chromosomes like you and I ... not 47 like the rest of our T21 friends, so technically kids with translocation are not considered as having T21 -- it is different, but they are all affected the same. Clear as mud? LOL

      Has your SIL's baby's FISH test not come back yet? I can't remember ... maybe you have to wait for the final to find out what type of DS it is. I think I remember that now.

    9. Hi Bethany-

      I love your blog! Your kids are all so cute! You are such an amazing mom! I hope you don't mind that I have been following it and had it on my blog list to check. Glad you stopped by mine and made a comment.

      You seem to have done your research on DS. I need to learn more. I agree about doctors. My doctor had absolutely no compassion when he told us and used the "R" word about 5 times like it was nothing. He is a good doctor but he should have handled it differently and I wish that he knew more of what to do. I have to tell him on our well visits what needs to be done and checked. Hopefully, I am doing all that I am supposed to for Jayne. Thanks for all the info!

    10. Bethany, so glad to have found your blog. I have a 3 yr old little girl who has du novo translocation DS with apraxia. Very interesting that these new tests would not detect translocation..