Sequential Screening Test - Amnio?

[prayforamiracle]

We just received our test results back and all is normal except our chances for Down's Syndrome went up from 1/820 (for my age) up to 1/200. I am a wreck! I know that is 1/2 of 1 percent and there is a 5% chance of false positives but we're not quite sure what to do. Would I terminate the pregnancy if the amnio came back positive? No, we would NOT. This leads us to not do any more testing. However, a part of me wants to know to 1) put my mind at ease or 2) prepare ourselves. Doc suggests an anatomy scan at 18-19 weeks instead of my already scheduled 20 week. If all comes back normal, our rates may go up to 1/400. What should we do? We have an appt with a genetic counselor in a few days.

[bhoban]

If it were me, I would wait and see how things turned out at the anatomy scan. If there are any additional markers, do an amnio. If not, don't worry about it. The odds are VERY much still in your favor.

[JenX]

Have you done the full sequential at this point...Both blood tests and the nuchal? I have heard the nuchal is often more accurate than the bloodwork.

If it were me, and it very well could be me in a couple of weeks. I would do what the doc suggested and go for the anatomy scan first...I think there are some very obvious signs that show up on that scan that could put your mind at ease. Remember 1 out of 200 is a very very low percentage chance that anything could be wrong and these blood tests often end up making people worry for no reason. Take Care!

[prayforamiracle]

Thanks so much for your response...We did have the nuchal ultrasound test first (around 11 weeks) and the bloodwork the same day. We then returned for the second blood last week. After the first round of blood and ultrasound, we were given a rate of 1:300 and apparently, the normal rate for the first round is over 1:50. we were in the normal range and i wasn't worried at all. then after the second blood, our rates went up to 1:200 with a cutoff of 1:270 which now moves us to high risk. My doc says we're in that gray area, still not sure what to do. We have our mtg with the genetic couselor tomorrow morning so hoping to get more info!! You're right though, 1:200 is low and I'm leaning towards the second ultrasound 18-20 wks for some revised odds (hopefully for the better!)

Thanks again.

[hkbuck]

prayforamiracle - I had a very similar thing happen to me. After our 12 week nuchal scan and b/w everything looked good. Then we went in for the 16 week quad screen and when the results came back I was told we were high risk with a 1:100 chance of Downs. I freaked out and cried for days but ultimately decided not to do the amnio. After all we went through to get pregnant I didn't want to risk anything with the amnio. If the baby had Downs we would have kept it anyway. I just wouldn't have been able to live with having a miscarriage due to the amnio and then what if you found out the baby was totally fine anyway? For my OB the risk of miscarriage was 1:400 but that still was too high for me. At our 20 week anatomy scan everything looked great and there were no markers for Downs so I relaxed a lot after that. I really didn't get nervous again until very close to the due date. We have a very healthy and happy baby girl now If you're not going to terminate the pregnancy no matter what then I would at least wait until the anatomy scan and then decide what you want to do. But remember, 1:200 is still very low even though in the OB world it's considered high risk. Good luck and keep us updated!

[prayforamiracle]

Thanks for all your support ladies...Just wanted to give you all an update. We ended up deciding to have the amnio for either peace of mind or preparation for what was ahead. We had the procedure the day after meeting with the counselor (so glad I could schedule it so soon or I may have changed my mind). I just got the call this morning that everything is normal!! I am so relieved and in hindsight, glad we went thru with the diagnostic testing. I just knew I needed that definitive answer or I wouldn't enjoy this pregnancy as much as I'd like to. I wish sometimes I could say I'm more easy going and "go with the flow" type of person, but i'm not, especially with something like this...I'm a planner! The procedure itself was not painful at all, but the waiting period for the results these last two weeks have been excruciating.

Thanks again for your responses to this, it truly helped!

[superclam]

prayforamiracle - I am so glad your results came back fine, and that you and baby are fine too. I had an amnio with my first, and now that I am pregnant again, I am a bit torn about doing the amnio; don't know why. The procedure itself didn't hurt me, but I remember it startling my baby. We were watching the screen and when the needle punctured the sac, the baby literally jumped backwards. I had a really good maternal fetal specialist doing the amnio who had done over 2000 procedures and no m/c in his patients. I am not sure if my HMO will have such an experienced specialist this time around, plus it sounds like there are many alternate tests this time around. I'll have to find out more about all these alternate tests.