Genetic Testing

lovelybabybumpz · October 2018

@anonellis
I sooo wanted to be team green for the wonderful moment of surprise. But I'm terrible at not knowing things. I want to know everything. I want to understand all of the universe's mysteries and all of human's knowledge. One of the reasons I became a scientist - to figure stuff out. I also knew I would ultimately be ok either way, so I was good with spoiling the surprise.

mrskoz428 · October 2018

If you do the 12 week genetic testing blood draw and NT ultrasound, do you always find out the gender? I guess I didn’t realize that was an option as it hasn’t been mentioned to me, granted not much about this appointment has been explained to me. I just no I’m meeting with a geneticist.

flutterflutter · October 2018

Nevermind.

chloe97 · October 2018

mrskoz428 said:

If you do the 12 week genetic testing blood draw and NT ultrasound, do you always find out the gender? I guess I didn’t realize that was an option as it hasn’t been mentioned to me, granted not much about this appointment has been explained to me. I just no I’m meeting with a geneticist.

@mrskoz428 you find out the sex of the baby when you get a NIPT test- which is typically only offered to high risk pregnancies (over 35 or previous losses). The fetal blood is located within the mother’s blood and the DNA is analyzed for chromosomal abnormalities. Because the DNA is analyzed, they can report the sex of the baby. The testing you are likely getting- the BUN test- is a sequentional test. They use information they get from your blood tests in combination with your ultrasound measurements to determine risks of potential chromosomal abnormalities. You will get a result like you have a 1 in 4400 chance of having a baby with Downs Syndrome which is why you will meet with a genetic counselor- to explain these results to you. I hope that makes sense.

mrskoz428 · October 2018

@chloe97 much more! Thank you! I was genuinely curious since they gave me pretty limited information about this appointment (just to drink water before my ultrasound so I have a full bladder) and there is WAY too much information out there on first trimester screenings and such!

willmisspumpkinbeer · October 2018

@chloe97 FYI - things have changed according to my doctor. I didn’t think I’d be able to get the test because I’m not ama or high risk... but she said the rates are a lot more reasonable now than just a few years ago. She said the most she’s seen her patients pay is 300 out of pocket ... when I was pregnant with my first son, it was a couple thousand so I didn’t get it done

chloe97 · October 2018

@willmisspumpkinbeer Yes if you know to ask for it, I know non-high risk can get it- but I think that a lot of OBs still aren’t offering it up as an option to their patients unless they are AMA.
ETA I bet it will be standard for all pregnancies soon though. It’s just so much better and accurate and less anxiety- inducing than the other screening.

willmisspumpkinbeer · October 2018

@chloe97 it really should be standard - I agree!

knottie0d8cc4d43bacc09f · October 2018

@chloe97 I completely agree. My OB office has started offering the test to all patients- regardless of age or risk level. The early ultrasounds can be so inconclusive and cause stress waiting for additional blood tests to come back.

chucksmom15 · October 2018

You don’t have to find out if you don’t want to @mrskoz428. You can just ask your doctor to only tell you if the baby is healthy. If it’s one of the tests with online results, you’d have to resist logging in and peeking!

mrskoz428 · October 2018

@chucksmom15 I certainly am not against finding out already, mainly because I want to go drop my next paycheck on baby clothes every two weeks, but don’t think that’s the kind of test I’m having, which is also fine. As long as all looks well and baby is strong and healthy, I’m a happy momma!

MelissaMay82 · October 2018

chloe97 said:

@willmisspumpkinbeer Try not to feel guilty. As much as you know in your head that you are thrilled to be having a healthy baby, I think it's normal to grieve a little for the loss of what you think your life would be. As you go along, I am sure you will start to see the good things about 2 boys. I really want another girl because I never had a sister and I want that for my daughter and I know that I will feel sad since I know we are for sure 2 and through.

@coffeeislife I see it as "holier than thou", but I also see it as very naive.

TW Until you have sat in a room with a maternal fetal medicine doctor who tells you the realities that your baby is facing and the risks to your own life to continuing the pregnancy, you can't really fully understand what the decision to terminate actually means. The reality of risking your own life and leaving your living child(ren) motherless to give birth to a child that has a very limited chance of living more than a few months is one that I hope no one ever has to go through. But it's a reality for some women. In my case, my MFM had very little confidence my baby would make it to the 2nd trimester and continuing the pregnancy could potentially affect my future fertility if I were to develop complications associated with the way the baby was growing. But unless you personally know a woman in that situation, a scenario like mine would not be one that would cross your brain and so you would be more likely to say something like "I would never terminate". END TW

I said this before and I will say it again, it's worth lurking other boards and reading the stories of women in these situations before you make the decision not to do the testing. I really really hope no one goes through it, but I do think that people should be as educated as possible before making these decisions.

I had a similar situation. I had what seemed like a perfectly healthy pregnancy (the initial genetic screening and NT ultrasound came back fine) and then DH and I were blindsided at the 20 week anatomy ultrasound with resulted in a referral to MFM for a level 2 ultrasound. It is the absolute worst feeling in the world to be told by the MFM doctor that he is 98% sure that your baby has a chromosomal abnormality that is incompatible with life. I would not wish having to make the decision to terminate or continue a pregnancy that is incompatible with life on anyone.

I had blood drawn yesterday for the Harmony test, so hopefully I will have the results back next week. I also have to go get some more blood drawn for some other genetic tests that are not included in the Harmony test (? spina bifida and anencephaly).

notsoblissylissy · October 2018

My Ob said I can do either the NT or the NIPT. The NIPT would be $350 at most, but I have been reading about being plus size and having the results turn out inconclusive. I’m thinking about asking to do both, but in case the NIPT isn’t reliable. I will be 12-3 at my next appointment, and if the NIPT takes too long to come back (and is inconclusive) it will severely limit my ability to have the NT done.

megsb615 · October 2018

Question for those that have done/are doing genetic testing, is your insurance covering it, or are you going to be paying out of pocket? It seems like several people are having it done. I spoke with our insurance last night and was told I would have to have prior authorization for it to be covered, but even then, I haven’t met our $600 deductible yet, so there’s that. The NP told me at my appt today there’s the option of doing it and supposedly it not exceeding $350, but not knowing the cost ahead of time makes me nervous.

kvh22 · October 2018

@megsb615 my OB said they have a negotiated rate of $350 with the company that does it if it's not covered which is why I'm considering it. This was not an option for my last pregnancy.

sleepy33 · October 2018

@megsb615 I'm doing it and it should be covered since I'm AMA, but my doc said this company has a guarantee it won't be more than $100 OOP if it's not. I'm not sure which company it is, but I can find out when they call with the results.

megsb615 · October 2018

@kvh22 I wonder if my OB office does too. I saw on the information card they gave me that if the cost exceeds $350, they will reach out to discuss cash pay options that doesn’t involve insurance. I feel kind of torn.

missy052819 · October 2018

@megsb615 my prior OB office charged $250 for the harmony test. My new office, I have to go to the hospital for it. I called & they gave my a bunch of insurance costs, but had no idea if there was an out of pocket cost. How do they not know? I don't get it. I miss my old OB some days.

k2k2tog · October 2018

@megsb615 it is covered as part of standard care by OHIP (the Ontario health care system). But we don't have the option of the fancy one that allows you to find out the sex super early.

megsb615 · October 2018

This is the little card they gave me today.
@sleepy33 You’ll have to let me know which company it is.

chucksmom15 · October 2018

I have been going round and round with my insurance for a week. Short version- bc I am AMA and we’ve met our deductible MaterniTi 21 will cost me $179. My OB does also offer Counsyl at a cash price but no one has told me what that is so we are going with the one I know. I did have to get pre-certified for my insurance to cover it.

robyn2201 · October 2018

My plan told me the Harmony test is 100% covered because it’s considered bloodwork, BUT as long as the laboratory is in network. If the lab is out of network I would have a $1000 deductible. No pre-authorization needed either. I am AMA though. It’s done through the MFM office and I called them to schedule the class and blood draw and find out the lab info, but haven’t heard back.

A friend did a different NIPT test and her in network lab sent the bloodwork to an out of network lab and she got a $1000k bill because of it. She is going to fight it but what a pain in the butt!!

bluesky24 · October 2018

FWIW, if you call these companies, they will always come down on price to a few hundred dollars. I think they try to collect through insurance to get a higher reimbursement, but they know people won't pay it out-of-pocket. Like someone said earlier, they just want your DNA at the end of the day, so they can't start charging people thousands of dollars for a blood test.

megsb615 · October 2018

@robyn2201 I would pass out if we got a $1,000 bill! Insurance can be such a pain in general, and even more so when trying to get something straightened out that I don’t know if I want to go through with it.

@chucksmom15 I don’t blame you going with the Mat21 test. The cost of these tests seem to be so vague. If we had met our deductible or were even anywhere close to it, I would consider doing it, but it seems like that’s not a safe route to go if the deductible hasn’t been met.

robyn2201 · October 2018

@megsb615 I so agree!! And my dr also recommended doing the state (CA) prenatal blood screening as well. Insurance didn’t cover it with my first and we got a bill so we didn’t do it with my second. The NIPT didn’t exist then. And now I’m AMA this time around and PGAL so I’m more worried. I’m leaning towards just doing the NIPT and I think we are going to skip the state one.

MalonT23 · October 2018

Just an update on my situation, I had to re-test because my first NIPT came back with low Fetal Fraction, I retested last Thursday and got the results this morning its the same thing as the first test with low fetal fraction. I of course was very upset and my doctor said that we could move up my 13 week ultrasound to this afternoon to see if we could see any abnormalities in the ultrasound. After a tense 45 minute ultrasound, the technician was able to get everything she needed and there appeared to be no abnormalities so the baby is healthy. I would totally post a picture of the ultrasound but I am going to guess its against the rules so I will go to the ultrasound thread. I am feeling so relieved. I had another blood test (not an NIPT) another test that I wasn't sure the name of but will give us some more results. I won't be finding out the gender early which I don't even care about anymore because the baby is healthy so I will find out during the 18 week scan like everyone else. Good luck with everyones testing, thinking good thoughts for everyone, what a stressful time.

sleepy33 · October 2018

@MalonT23 Happy you ended up with good news but that sounds very stressful!

chucksmom15 · October 2018

Glad they did the US for you @MalonT23 Yay for a healthy baby!

bluesky24 · October 2018

So I just got my cost estimate from counsyl. I’m not in network but they have an alternative option to pay cash for $199. Sharing in case that’s helpful info!

megsb615 · October 2018

@MalonT23 Great news! Glad everything went well!

anonellis · October 2018

@megsb615 for my last pregnancy it wasn’t covered (my insurance believed it wasn’t medically indicated for twins, which is dumb and wrong but whatever), and it cost me $250 out of pocket. I knew that in advance, thankfully the geneticist handled dealing with the insurance and getting that info. This time I expect it to be covered because I’m AMA but haven’t had my appointment to confirm. I’ll get it done either way. They scare you with the crazy high price they try to bill your insurance at, but a) no insurance company actually pays out that price and b) they come way down when they know you’re paying out of pocket.

megsb615 · October 2018

@anonellis That’s good to know that they’ll come down on price if you’re paying out of pocket. Im 3 years short of AMA, and we haven’t met our deductible, so I’m sure we’d have to pay out of pocket. The unknown price tag just makes me nervous.

anonellis · October 2018

@megsb615 someone — either your insurance or the company doing the testing — should be able to give you a max amount you’d pay BEFORE you do the test. I agree, not knowing would be crazy.

dfirstimer · October 2018

Hi all, also waiting for Panorama results. Had blood work done exactly at 10 wks a week ago and crossing my fingers everything comes out ok. I am in my 40’s, first pregnancy so all is new and I am high risk. @chloe97 thank you so much for sharing your past experience and advise. It is so great to see a support group like this

minnemiska · October 2018

Call and get a price quote and ask for it in writing. Last pregnancy I called but the quote was $300 less than what they actually tried to bill me! I complained and kept ignoring the bill until they sent me one for the amount originally quoted, so I won that war eventually. I was AMA last time too so it should have been mostly covered. Now my OB uses a different company and I was able to get an online quote after inputting my insurance that says it will be $0. Definitely holding them to that!

knottie0d8cc4d43bacc09f · October 2018

Is it just me or is waiting for genetic test results to come back 10x worse than the 2 week wait?

bluesky24 · October 2018

@secicc12 yes!!! I had the weirdest dream about these results last night. Can't handle the wait!

lappymom2019 · October 2018

Does anyone have any good resources for information on genetic testing? I am really hesitant about doing anything and just trusting in God's plan because I don't want to be in a position to make a decision if it came back high risk, but I want to be more informed of my options.

BWhitta · October 2018

We had the NT scan and bloodwork done this week (13 weeks) and it won’t be covered by insurance, but were also told it would be around $300. My dad’s sister has Downs so we just would like to know, truthfully I mostly wanted the test done bc I heard we’d get to find out the gender, but it turns out you don’t with this test, haha. BUT we got a fun surprise and our ultrasound tech was able to tell us that it’s a boy!!!!!!!! Everything on the scan looked great, good neck and nasal bone measurement, she said she’d be surprised if anything comes up on my bloodwork so I’m just trying to forget about it until my results come...they don’t call unless it’s bad news so every time my phone rings I cringe!

chloe97 · October 2018

@lappymom2019 I think this is a good resource https://americanpregnancy.org/prenatal-testing/first-trimester-screen/.

@secicc12 YES! This is worse than the 2 week wait for me b/c with the TWW I always knew that if I had a BFN at 10 DPO I was out and I would comfort myself that week by drinking all the wine that I knew I may not be able to drink the next week. But the stakes are soooo much higher with the NIPT testing wait and you don't know exactly when it will end. I start mine tomorrow and I dreading it. Trying to plan some fun activities to keep my mind off of it.

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