Post by springbeduk on Feb 28, 2017 4:11:29 GMT -5
So, my suspicion that my panorama test results not getting posted on the website (instead said give your provider a couple days to call and talk to you) and no voicemail from midwives while I was away meant bad news turned out to be right. Elevated risk for trisomy 13. Midwife said the positive predictive value of the test is actually only 34% (that is the probability that the finding of elevated risk will actually correspond to a confirmed t-13 diagnosis) so I am trying to not freak out, and trying to hold on to hope to be in the 66%, but ... It's hard.
Waiting to hear back for appointment time at MFM - I guess that'll be for an ultrasound and meet with genetic counselor and with MFM. And then pretty surely have to have an amniocentesis as soon as they can do one, which again, I'm trying to not panic about.
Had anyone here had one? Do you see them putting a giant needle in? How painful is it? Plus there's the associated miscarriage risk. But with it being the only way to know for sure, don't see any other option.
Married to dh since 2012. Ttc journey: Miscarriage at 8 weeks February 2013 DD born march 2014 Miscarriage at 6 weeks September 2015 Miscarriage at 16 weeks, our angel Sebastian 1/23/16 Pregnancy number 5!! Edd 9/2/17 (my moms brithday!)
Married to dh since 2012. Ttc journey: Miscarriage at 8 weeks February 2013 DD born march 2014 Miscarriage at 6 weeks September 2015 Miscarriage at 16 weeks, our angel Sebastian 1/23/16 Pregnancy number 5!! Edd 9/2/17 (my moms brithday!)
Post by LittleStarSweeper on Feb 28, 2017 6:39:50 GMT -5
I'll be thinking of you, springbeduk. I have no experience with an amnio, all I can offer is hugs. Perhaps call and talk to your OB (or midwife, whomever you've been seeing) about your fears regarding your test results and the amnio procedure. He/she can explain the procedure to you in as much detail as you'd like. More importantly, he/she may be able to calm your fears a bit while you wait for your appointment.
I am so sorry for the results of this test, but please do keep in mind that it is a screening and only the amnio results will give you clarity. I have had an amnio before:
It doesn't hurt, they give you local aesthetic You can see the needle, but I turned my face away, closed my eyes, and held my husband's hand very tightly. They have the results quickly, I think within 24 hours.
I will be praying very hard that the results of the amnio come back clean. I have received the bad news from this situation before, so I am here for support, love, and listening no matter what the outcome is. Stay strong mama.
DD lost and born 9/18/2013 at 24 weeks (Trisomy 18) DS born 6/16/2015 (at 39 weeks 6 days, after emergency cerclage at 23 weeks and 14 weeks of bed rest)
Post by saltandvinegar on Feb 28, 2017 8:55:22 GMT -5
No experience but lots of hugs. Try not to worry yet. 66% is still a good percentage of having a perfectly healthy little one. I have heard a ton of stories about false positives on the early tests. Positive vibes!
Is it because of the nuchal fold? I can't remember what indicates what for risks.
If it is the nuchal fold, my niece had a larger nuchal fold which indicated trisomy (again not sure which I'm just not up to date on all the specifics for this test) and my brother and SIL were so worried. Everything ended up being just fine. They did further measurements and some other test (can't remember what exactly) but it came back negative the second time.
Met in May 2011 Engaged November 2011 Married November 2013 Started TTC November 2015 Began Infertility Workup November 2016 BFP! Lucky #13 Cycle TTC Due Date: 9/5/2017
TTC since July 2014. CP March 2015. IVF #1 March 2016, 5R, 3M, 2F with ICSI. Transferred 2 on day 3. CP. Surprise BFP and then CP August 2016 (prep cycle for IVF). IVF #2: zero eggs retrieved IVF #3: 6R, 5M, 5F, 3 (2 8A and 1 11A) transferred, one "B" graded embryo frozen on day 5. BFP (at home 7dp3dt, confirmed 14dp3dt with 1552 beta) and U/S at 5w5d, 2 sacs and 2 yolks!
Post by salmon2017 on Feb 28, 2017 16:09:16 GMT -5
I just wanted to pop in again to say that your genetic counselor can be a wonderful resource to you. They have seen many families go through this same situation and can clearly let you know options, risks, and potential outcomes in a compassionate and non pushy way. I hope you find your meeting with them to be helpful.
DD lost and born 9/18/2013 at 24 weeks (Trisomy 18) DS born 6/16/2015 (at 39 weeks 6 days, after emergency cerclage at 23 weeks and 14 weeks of bed rest)
I'm so sorry. No experience with amnio but also sending positive thoughts and hoping you get more answers and support from your providers soon. I know maternal age is factored in for this screening and I remember you said you were AMA, which means you are more likely to get a false positive and actually be in that 66% than a younger mother who receives a positive result for elevated risk. I so, so hope this is the case for you!
Thank you all for your thoughts and support. It helps!
We have an ultrasound tomorrow morning which may give some information (especially if the baby really does have trisomy 13) but unless I can manage to get referred somewhere else (like somewhere in Boston probably) have to wait until March 29 for amnio as the MFM place (still 3+ hours away) providers here work with won't do amnio until 17 weeks. Which seems unusual so another reason to try to go somewhere else. Recommendations for Boston area MFM practices (or southeastern NH) welcome ...
The genetic counselor at the testing company was quite helpful (free phone consult) and I've talked with midwives on the phone and will go in for an appointment with them (luckily with my favorite one who I think is also the most experienced and talks more scientifically than emotionally which suits me) tomorrow afternoon.
This has just been a busy and exhausting week with this information on top of coming back from our trip and also a very busy week at school(work). So haven't had time to tcf much.
TTC since July 2014. CP March 2015. IVF #1 March 2016, 5R, 3M, 2F with ICSI. Transferred 2 on day 3. CP. Surprise BFP and then CP August 2016 (prep cycle for IVF). IVF #2: zero eggs retrieved IVF #3: 6R, 5M, 5F, 3 (2 8A and 1 11A) transferred, one "B" graded embryo frozen on day 5. BFP (at home 7dp3dt, confirmed 14dp3dt with 1552 beta) and U/S at 5w5d, 2 sacs and 2 yolks!
I've never had an amino, but I wish the best for you. I don't think amnios are done any earlier that 17-20 weeks in general. I think earlier than that they can do CVS, but I'm not sure if that's as good of a test or as safe as an amnio.
springbeduk, I'm glad they are getting you in for another ultrasound. Maybe they can rule it out and you won't need the amnio. I will be praying for you! Hopefully all of this is unnecessary worry.
I've never had an amino, but I wish the best for you. I don't think amnios are done any earlier that 17-20 weeks in general. I think earlier than that they can do CVS, but I'm not sure if that's as good of a test or as safe as an amnio.
Almost everything I've read says amnio is done from 15 weeks on (and can be earlier as well but is trickier and considered early). CVS is different and we would've been sent for that yesterday to get good timing for it but don't want CVS as it tests placenta cells not cells from the fetus and there are documented cases where the placenta has trisomy 13 but baby does not (meaning the error wasn't there in sperm/egg but arose in the early cell divisions in one of the cells that grew into placenta rather than fetus). In those cases CVS would give a false positive. And I really hope to be another one of those cases. Or any other mechanism which could explain the extra chromosome 13 material found but leave the baby OK.
DD lost and born 9/18/2013 at 24 weeks (Trisomy 18) DS born 6/16/2015 (at 39 weeks 6 days, after emergency cerclage at 23 weeks and 14 weeks of bed rest)
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