"High risk" for trisomy 21-- what should I ask/ consider

[sste]

I would do the MaterniTY21 test. Non invasive, no risk, and very accurate.

Oh, that is def. something to ask about! When I was pregnant this was not available and I think now it still may not be covered universally on health plans. But that would be a very good option to look into.

[Roleysmom]

I'm sorry. I know this is unexpected and scary. I came out of the same test with a 1:23 chance for Trisomy 21 and a 1:5 chance for Down Syndrome.

"So, with that in mind, I would ask if there are any other issues that can come up in pregnancy (growth, etc.) that the test might be picking up on"

I completely agree with AngB's advice and with the advice of all who suggested speaking with a genetic counselor first and as soon as possible. She led us through the two blood test results (the nuchal fold ultrasound was fine) and from our discussion I learned that the blood tests really didn't support the high Trisomy score and that research was beginning to show a correlation between my type of result on one of the blood test scores (can't remember which one) and an increased likelihood of IUGR.

We did do an amnio and DD did not have Down Syndrome or Trisomy but I did end up having IUGR and she was delivered at 37 weeks 4 days weighing 4 pounds 6 oz. Because of the results of the test and the recommendation from genetics, I got ultrasounds every four weeks starting at week 32.

Good luck. I'll be thinking of you.

[Snow mom]

Oh, that is def. something to ask about! When I was pregnant this was not available and I think now it still may not be covered universally on health plans. But that would be a very good option to look into.

I need to call and see what my coverage is. I believe the doctor said the cost would be ~$250 (I wrote down the number she told me-- just don't remember off the top of my head) based on the type of insurance I have, even if the insurance doesn't pay for it. In case anyone was wondering about this test the company has an 800 number that you can call to find out about the pricing which they base on your insurance type. I'm getting to be more of an expert than I wanted to be in medical coding.

I am honestly concerned about the false negative/ false positive rate of the blood testing. I haven't seen any estimates but it isn't a definitive test. It sounds like if the test results come back normal you can be fairly confident that there isn't a trisomy and if they come back abnormal you end up again having to choose amnio, CVS, or wait. I would prefer something that involves a karotype, although I guess I remember hearing once here that there is a tiny failure rate with getting correct results from amnio/ CVS. I'm a biologist, TAed genetics for 8 semesters, so I understand the genetic/ biology and probability side of the issue. I guess that's a start.

Any ideas how to find out who the most experienced/ lowest complication doctor in my area is? I googled and found one post where two people recommended who I'm already seeing so I guess that's a good sign. I just want to be sure I'm not missing a great provider.

[Minnifer]

Any ideas how to find out who the most experienced/ lowest complication doctor in my area is? I googled and found one post where two people recommended who I'm already seeing so I guess that's a good sign. I just want to be sure I'm not missing a great provider.

Do you mean for CVS/amnio? If so, where are you located? There's a fairly short list of the top drs across the country for these procedures.

[Snow mom]

Do you mean for CVS/amnio? If so, where are you located? There's a fairly short list of the top drs across the country for these procedures.

I'm in Austin, TX.

[sste]

Starting with a major academic center is usually good for something like this. Then ask how many CVS procedures the MD does per year and what his or her complication rate is. There are people outside of academic centers too. You could call a MFM unit at a Texas academic hospital and ask who they refer out to in Austin for CVS.

As for accuracy, my understanding is that the new blood test appears highly accurate. However, it is new and if you personally need 100% accuracy and can't get that from the blood test, then do the CVS. It is really about what will make you feel the best during your pregnancy -- for some people a 0.5 error rate is enough to keep them up at night, others would be fine. Entirely personal and I would just accept your personality as is rather than trying to be "reasonable" if that makes any sense . . .

[Minnifer]

I'm in Austin, TX.

The only name I've heard for TX is in Houston (Robert J Carpenter Jr, (713) 795-4600, 6624 Fannin St, Houston, TX 77030). I don't know what his rates are like personally but have the name from good sources; you should definitely ask for the rates. The bulk of the top rated drs for these procedures are in NY and CA - for comparison for rates, my MFM is one of these and her loss rates as of nearly 2 years ago were 1 in 1300 for both procedures (a dr who does CVS all the time will typically have the same loss rate for both CVS and amnio). IMO/E it's key to go to someone who does these procedures all the time and many people do travel for it.

[arivecchi]

Forgive me if you already mentioned this, but who did your testing, your OB or a genetic specialist?

For pregnancy #1, I got a false positive for Downs. My OB only ordered a quad test which has a high rate of false results. I then had to go to a specialist to do an amnio because I was past the first trimester and could no longer do those tests.

With pregnancy #2, my new and much improved OB sent me to a genetic specialist right away and he did the first trimester screening and explained everything in great detail. Having a specialist do this sort of testing makes a world of difference IMO. Get thee to a specialist asap if the testing so far has been handled by your OB.

[Snow mom]

Forgive me if you already mentioned this, but who did your testing, your OB or a genetic specialist?

For pregnancy #1, I got a false positive for Downs. My OB only ordered a quad test which has a high rate of false results. I then had to go to a specialist to do an amnio because I was past the first trimester and could no longer do those tests.

With pregnancy #2, my new and much improved OB sent me to a genetic specialist right away and he did the first trimester screening and explained everything in great detail. Having a specialist do this sort of testing makes a world of difference IMO. Get thee to a specialist asap if the testing so far has been handled by your OB.

Testing was at a MFM. I'll meet with her again tomorrow morning. I think to do CVS I'm approaching the end of the window. I'll be 13 weeks (based on LMP) on Thursday. I've measured a few days ahead of that at both the ultrasounds I've had (although within confidence interval to go with LMP dating.)

[janine]

The only name I've heard for TX is in Houston (Robert J Carpenter Jr, (713) 795-4600, 6624 Fannin St, Houston, TX 77030). I don't know what his rates are like personally but have the name from good sources; you should definitely ask for the rates. The bulk of the top rated drs for these procedures are in NY and CA - for comparison for rates, my MFM is one of these and her loss rates as of nearly 2 years ago were 1 in 1300 for both procedures (a dr who does CVS all the time will typically have the same loss rate for both CVS and amnio). IMO/E it's key to go to someone who does these procedures all the time and many people do travel for it.

I did not have high risk result, but based on my age I wanted peace of mind and I was lucky enough to be in a location (NY) where the top doctors reside. I believe I also received referrals from BBB'ers (like Minnifer) which cross checked to my own research and my own doctor (there are a few well known ones in the field particulrly with CVS). I myself went with an amnio since no elevated risk but would have gone with CVS if I had. Since you mention fear of false negatives/positives, it seems like diagnostic testing is a reasonable route to go as it offers definitive answers and at least peace of mind in knowing. The procedure, when conducted by top doctors (in my case she did several a day) is completely safe in my experience and research. Personally I'd feel more comfortable with it then new tests that may have emerged recently which might be great options, but there is less data and research to support it. Hugs and please keep us posted.