Genetic Testing Results Thread#2

julianne0

The last thread was getting a little full. I figured it’d be a little more organized with a second thread to keep up where everyone is at now!

julianne0

 I’ve gotten really positive news after my Amnio last week and truthfully I didn’t feel right posting about it on the first thread after a fellow mom had such a significant loss    

Everything has been negative so far, so it’s been really great news. I do feel pressured though to keep doing more testing, such as an echocardiogram and more scans that are more expensive. We’ve already hit our high deductible and unfortunately we can’t keep doing all of these expensive tests! I think we know enough at this point but I don’t know if it sounds risky to not do the things being suggested but reality is the medical bills are too outrageous. It’s hard to feel optimistic and excited when the high risk doctors/genetic counselors make into such a thing still.
Has anyone else been in this position before? 

wildtot

@julianne0 I’ve only had one insurance company most of my life so I’m not familiar with how others work. Do you have a max out of pocket that would then require the insurance to pay 100%? Could the doctors give you a discount? 
Glad to hear the amnio gave some good results! I can’t say what is the right decision but just make sure it’s something you are 100% ok with. Keep us posted! 

julianne0

@wildtot I think the out of pocket max is a crazy amount like 9,000. I think we now have to pay 15% of our bills. That’s a good question about if the doctors could give a discount. I think after I tell them we can’t do these certain things they’re asking me to do, then maybe they’ll offer something like that because they really seem like they themselves get pressured for women in this situation to kind of go overboard with testing. That’s my view and opinion on it
thank you for your suggestions! I’m such a dummy when it comes to insurance, I was on a much better plan last pregnancy 

wildtot

Bummer that’s a lot! I guess another way you can think of it is you pay for that now with these extra tests or later after you deliver. You’ll most likely meet you out of pocket for that. 

julianne0

@wildtot very true! I think my next step is finding out how much delivery will be and go from there

angleyeskkhr

I’m still waiting for results from my quad screen. I’m trying to be patient. 

stillcozy

@angleyeskkhr thinking of you! waiting is so hard! 

Sarafuss

@julianne0 if the amnio came back clear I think I would hold off on more testing.  (and yay for awesome results!).  Have you had your anatomy scan yet?  If something looks off at that u/s I would purse a fetal echo if necessary.  Are they still seeing issues on u/s? I’m confused why they would be pushing for more testing if the amnio ruled out a chromosomal issue.

Sarafuss

Also, @julianne0 see if your hospital (if they are doing these u/s and tests within the hospital) have a financial assistance program.  Ours does and we just submit our bills from the hospital and they reduce them by like 60-70% (based on our income and family size of 5 people).  I was surprised we qualified since we don’t qualify for things like Medicaid and other assistance programs through the state.  But their threshold is higher.  Not all hospitals do this but it’s worth looking into!

julianne0

@Sarafuss thank you so much for that suggestion, I really hope our hospital offers something like that. 
I’m also confused as to why more testing is being offered with such a serious tone. Its not just “you should do this”, it’s “we’re going to have the scheduler call you to set this up”. They said it’s because of the fluid that was behind the neck initially- that even though the tests have been negative, there still could be a reason why it was there in the first place. We have some impressions as to why they might be pushing the extra testing but I’m nervous to give my opinion here since it’s not factual but based on conversations we’ve had with our midwives who offered some other perspectives.

I got a scan at 16 weeks, which showed no more fluid behind the neck, and everything else looked great. At the 18 week scan that was done with the amnio everything looked really good as well but they did see one thing with the bowel. The dr said it could be a variety of things, or nothing at all. Some things have been ruled out with the amnio results so chances are it’s nothing. We’re waiting to hear if it happens to be cystic fibrosis, which I think the chances are low and we’ll find out eventually anyways with or without a scan done. 

julianne0

@angleyeskkhr do you know about how long it takes for the results to come in?

angleyeskkhr

@julianne0

im not sure. She said she may update the online portal if everything is clear. But may just wait til my next appointment. If I have to wait, it’ll be the beginning of March before I know anything. 

julianne0

@angleyeskkhr can you give them a call to find out? Its understandable that you would rather know sooner than later and not have to wait until March

nimmle

@julianne0 did you not get screened to see if you’re a genetic carrier for Cystic Fibrosis? That was one of the things they checked when they took what felt like all my blood at my first appointment. I’m not sure if that’s standard operating procedure, but I also have Ashkenazi Jew ancestry which makes them more careful about checking carrier status. 

julianne0

@nimmle the high-risk doctor wanted both me and my husband to get screened, but we found out it costs like 700-800 for each person so we didn’t find it worth it. I guess we’ll find out eventually through the amnio testing, and all babies are tested after birth too. It’s hard to turn down testing but we have to pick and choose at this point unfortunately. 

nimmle

@julianne0 Wow that's crazy it is so expensive! 

julianne0

nimmle said:

@julianne0 Wow that's crazy it is so expensive! 

I know! It’s so disturbing to me that people have to be in these positions with medical bills! 

runsomewhere

@julianne0 great news about the amnio, I had to go through that too and it was very stressful. I also did not feel comfortable posting about my experience on the previous thread as I felt like it was just so unfair and sad that some moms get the good news while others don't.

I'm shocked about the price you're being given to check if you're a carrier for cystic fibrosis. It's a simple blood test to check if you're a carried so that sounds pretty outrageous. Do you have options to call around to other clinics or labs? Hopefully everything clears up soon and you can enjoy the rest of your pregnancy.

julianne0

@runsomewhere I was scheduling to get the bloodwork done and a midwife told me to call insurance first because she had seen the tests cost that much. Before i talked to her i figured it’d cost us a few hundred at most. I didn’t bother calling insurance because our insurance really isn’t the greatest and with all of these other bills rolling in I figured we’d find out eventually anyways. Truthfully, the reason the high risk team was urging me to get the bloodwork done and find out sooner than later if the baby has CF is to choose to terminate. I’ve told them numerous times we’re not doing that, but it still keeps being put on the table as an option

glad to hear you’ve also been given good news- are you at the stage where it’s back to “normal” routine check ups and everything? Or is it also being recommended for you to keep doing additional testing?

bearrosebudbutterflyrainbow

@julianne0 Glad to hear you got positive news!

After our NT bloodwork came back high-risk, we did cell-free DNA/ NIPT, which came back okay.  The genetic counselor said that they still need to watch the placenta because it can effect the little one's growth.  My DH and I thought at the anatomy scan they would be able to tell us we were in the clear, but the doctor said that all babies are still around the same size and recommended a growth scan at 28 weeks.  Anyone else getting a growth scan ultrasound?  It sounded like it wasn't a typical thing, but I wasn't sure if they just recommended that to anyone with concerns.

julianne0

@julybabybear yes they said we will need to do that too! I’m pretty sure it would be for when I was around 24 weeks because I thought the dr had said 6 weeks from that appointment where I was 18 weeks. With the ob practice/hospital I’m going through, I’ve had to have these scans done at the hospital- sometimes in Boston, instead of the ob practice. They are more expensive so my question is going to be if I can just do that at the ob/gyn instead of the hospital. Is this similar to you and how your practice works? 

bearrosebudbutterflyrainbow

@julianne0 I hope yours goes well!  Gosh, I wish our scan was closer.  I want to get out of this constant worrying phase!  Our doctor said we had to wait til the 3rd tri to see if he was growing the right way.  We've been having all of our US at the hospital (Hartford, CT) since the NT scan/bloodwork results.  Ours are more expensive than the regular OB too, it stinks, but they have been insisting that it's better equipped.  The only nice thing is they don't charge interest on medical bills, so at least if we need to put off paying, we can for a little bit!

morethanamama

@julybabybear I'm getting a growth scan at 24-25 weeks. Something about the position of the cord, they say it's borderline an issue but they want to make sure as in some cases it can interphere with the growth of the baby.

bearrosebudbutterflyrainbow

@kissableviv I hope yours goes well!  Good to know these things are a little more common then I thought.  I know the doctors just want to check every little thing to be extra safe.  At least, it's a another look at our little cuties.

runsomewhere

@julianne0 how stressful that they are pushing for tests that you aren't even requesting.

For me the testing is done. I had first trimester blood results
come back higher risk for downs after a negative NIPT due to hormone levels. The fear what that the test may be picking up a chromosome issue that the NIPT does not test for. I needed to know what was happening so I did amnio. Second tri and amnio results were geat so we are in the clear. Looks like the first blood test used a due date that was a week behind which could have produced the result.

I do have a few uterine fibroids so I will be getting a few extra ultrasounds plus last time my fundal height never went past 32 weeks so they kept checking on that but those aren't huge issues and totally separate from the amnio and all the unexpected stress.

morethanamama

@julybabybear totally! I'm still amazed he is in there every time we start an ultrasound! 

babybakie

@julianne0 - glad to hear your amnio came back good! That seems extremely reassuring!  I'm sorry the suggestions of all these tests are causing you stress and for the insurance headaches but it sounds like you have great odds of everything turning out fine!

@julianne0 @julybabybear I know exactly what you mean when you speak of all the testing stress.  I am waiting for my amnio and microarray results and sometimes I wish I never even got them done because i was feeling great when my NIPT was normal, and now I back to waiting and worrying again.  I find it difficult to relax while constantly anticipating the next tests result. I keep reminding myself,  we are all more likely to have a healthy baby than one that's not. 

morethanamama

@babybakie I've been thinking of you! Wish you the best on the results. I hope we all end our worries soon and that everyone has healthy babies.
Keep us posted!

stillcozy

@julianne0 so glad you got some good news. I have a friend who both her and her husband are carriers. would you like me to ask how she did the test to see if there is a different option for you? Sorry it had been so stressful for you! 

@babybakie love your U/S picture! it is so hard to relax at times until you get the results in your hands so I totally understand that! fingers crossed and sending lots of good thoughts your way! 

@kissableviv my bff had to have a dating scan for a cord potential issue too everythinng turned out just fine. Sometimes they just want to monitor. hoping it is the exact same for you!! 

babybakie

@kissableviv Thank you for thinking of me!! I haven't been too active on the boards for a while just due to nonpregnancy life craziness but all is well.  Ive missed you bump-moms!

@lindsayleigh1989 thank you! And thank you for sending the good thoughts my way! As we all get further along, it really feels more and more like all will be ok!! 

krystlerr

@julybabybear I also have to have additional growth scans as I move further along. Thankfully our NT scan results were all good however I had low HCG levels and that can be a risk factor for growth restriction and early delivery. My Ob said it is common and nothing to stress too much about but they want to do it as a precaution. Trying to stay positive and hoping all goes well and baby continues to grow as they should! 

bearrosebudbutterflyrainbow

@krystlerr Keep us posted on yours too!  I'm glad that your OB said it was common.  When we go to the hospital for the ultrasounds, the doctor is always very short and gives the 'need to know' only.  Our regular ob is usually way more involved.

julianne0

@runsomewhere that is so great that you got good results from the amnio! It’s so strange that the bloodwork results can indicate high risk when nothing is wrong at all

@babybakie it’s SO hard not to worry! Every time my phone would ring (3 different times we got a call with results) my heart would start pounding. I’m so ready for it to all be over. I totally am in agreement that your baby and the rest of our babies will be just fine, but this has for sure been a rollercoaster! 

@lindsayleigh1989 that would be helpful! Did your friend have a baby with CF since they were both carriers?

wildtot

Continuing my post from my scan today. Baby shows white dots in his heart (EIF i think it’s called). Doctor doesn’t seem concerned because all other genetic testing is negative or low risk. Google has unusually been reassuring too with women sharing positive stories. But as usual it will be in the back of my mind. It’s not a heart defeat but rather an “old” soft marker for downs. I’m not considering the amnio as it’s not a life threatening thing from what i understand. I’m gonna ask for another scan to follow up as i hear they can disappear. If anyone has similar experiences, I’d appreciate your stories! 

elizabethrn87

wildtot said:

Continuing my post from my scan today. Baby shows white dots in his heart (EIF i think it’s called). Doctor doesn’t seem concerned because all other genetic testing is negative or low risk. Google has unusually been reassuring too with women sharing positive stories. But as usual it will be in the back of my mind. It’s not a heart defeat but rather an “old” soft marker for downs. I’m not considering the amnio as it’s not a life threatening thing from what i understand. I’m gonna ask for another scan to follow up as i hear they can disappear. If anyone has similar experiences, I’d appreciate your stories! 

I believe my daughter had this and everything was okay. She also had a cyst on her ovary while in me but it was gone the day after she was born.!

wildtot

@elizabethrn87 thank you! Did they do any additional testing or scans?

SmashJam

@wildtot I don't have any thing really to add except I hope it doesn't cause you too much stress thinking about it. I think we had a one off post earlier this week about EIFs where they mentioned the docs said they usually disappear and they would get a follow up a month later to check out if they were gone yet. But I cannot remember who the poster was and if it was a regular or a random.

wildtot

@SmashJam yeah i remember that now, i don’t think she ever replied back. Bummer 

angleyeskkhr

Well, my quad screen results were updated to my online app. 

Neural tube defects 1:10,000
DS (2nd trimester) 1:1448
DS (by age) 1:353
T18 (by Age) 1:1373 

since the top said it was negative I’m assuming these are all good/great numbers...

now on I wait 1.5 weeks and get to do the anatomical u/s and see Kennedy again!

comealongponds

@wildtot no experience but sending good thoughts! Hopefully the EIF is an isolated finding and baby is otherwise healthy. One of my twins had a two vessel cord/single umbilical artery which could have been a soft marker for other issues but it was isolated and everything else looked normal on US. 

Had our AS today and baby girl ( still in shock) looks good from what the tech could tell me but measuring a wee bit small so we might need a growth scan in a bit to make sure she’s growing normally.