Genetic Screening & Testing Thread

acleverusername

Starting this thread for discussions around genetic screening, testing, and results. 

acleverusername

I got my NIPT results back yesterday and we're LOW RISK for everything! H and I are overjoyed since *TW* our 2 previous losses were due to genetic issues *end TW*. It finally feels like we can breathe a sign of relief. I had my weekly call with the RI today, and he says everything is looking great. He will start to wean me off meds after week 14. For now he's looking for signs that my placenta has taken over the production of E2 and P4 which it has not, since my levels this week are the same as for the the past weeks. Hopefully next week! 

etnyah

That’s amazing news, @acleverusername! I assume you also know the sex and are keeping us in the dark? 

I had my first prenatal appt yesterday and was referred to genetic counseling due to my son’s condition. A little backstory: he has a chromosomal condition which is dominant, meaning if either parent has it, any baby has a 50% chance of having it too. Both H and I tested negative so chances are his case is spontaneous, but there’s a small chance one of us could have a mosaic case which is very difficult to 100% rule out. Neither of us have any symptoms of it, but it’s an extremely variable condition ranging from some people living normal lives never knowing they have it, and some being so cognitively and physically impaired they can never live independently. Our son has a mild-moderate case, but that’s no indication of severity for the next baby. Severity seems to be completely random.

So, our chances of another baby with the same condition is either 1 in 8000 (general population risk), or 50/50. We have no idea of knowing which one it is, so realistically it’s estimated to be a 1-3% chance.

Until yesterday I thought NIPT didn’t test for it, but doing a little research it looks like it does! So now I need to find my son’s exact mutation to make sure it’s in their database, and then I’ll do NIPT! Hopefully they’ll call me today to set up an appt.

Obviously NIPT isn’t a diagnosis tool, I’ll still have to rely on a third tri US to look for physical manifestations and then a cord blood test after birth to rule it out completely, and I’m wary of false positives with NIPT. But, if the results come back positive for the exact same mutation my son has, I doubt it’s a coincidence, and we’ll be able to prepare accordingly. 

acleverusername

@etnyah this is so interesting. May I ask what condition this is? I wonder if our individual genetic testing (that H and I did as part of our infertility workup) would have revealed if either of us were carriers. 

I know all about to autosomal dominant type of mutation since H is a carrier of gene that's associated with some very rare forms of tumors / cancers. Genetics is really fascinating! 

etnyah

@acleverusername it’s such a rare condition that I don’t want to share publicly (I also won’t post a pic of his face here), I almost feel like I’ve shared too much already lol. Once we move to a private group or FB I’ll go into more details!

Genetics are super interesting. His condition you can’t be a carrier of, you either have it or you don’t. The variability in cases is so fascinating to me. In the FB support group, there are several parents who found out they had it after their child was diagnosed with a worse case than they have. Absolutely nuts. 

acleverusername

@etnyah totally understand! I hope you get the option to test for me earlier in pregnancy. 

acleverusername

Oh and @etnyah:

"I assume you also know the sex and are keeping us in the dark?"

YES. I figure if I tell anyone, even a bunch of anonymous online strangers, it can lead to having a slippery tongue IRL. 

etnyah

@acleverusername ha, I figured you’d keep from us too! Consistency is definitely key with a secret like that, I hope you manage to keep it up for the whole pregnancy! Please keep us updated on how mad it’ll drive people around you lol.

shoogapoff

@acleverusername Yay! So glad for those results. I know that's a huge relief for you! As far as the sex goes, we were team Green for our last pregnancy, but I actually accidentally saw the sex on the nipt results. I had to keep it a secret from everyone, including my husband. He knew that I knew, but he still wanted to be surprised. It was actually not that hard not to slip but i did struggle with remembering that it was okay everyone knew my son was a boy after he was born. Lol!

babyrsmom63

This is our first and I’ve been wondering if our insurance will cover the genetic testing.. I’m only 7w3d and have my next check up appointment on 9/26 so I was going to ask about it. Neither of us have a family history of anything so as much as I’d like to have the testing done, I have a feeling they won’t find it medically necessary and I’ll have to pay out of pocket. What are your experiences with insurance coverage/out of pocket costs?

etnyah

@babyrsmom63 this varies a lot from insurance to insurance, if you’re considering low risk and not AMA many insurances won’t cover it. Even if they cover it, you have to make sure they actually do cover part of the cost and don’t just count it towards your deductible while you get the bill, especially if you’re generally healthy and and don’t think you’ll meet your deductible/oop max this year.

I have dogshit insurance so I’m probably going to be stuck with the bill. It’s happened before. Sometimes it even makes sense to not go through insurance, as out of pocket invoices tend to be lower.

nsk489

@babyrsmom63 my insurance did not cover it (bc my husband and I were not "high risk" for anything. Although we do have a nephew with CF so I'm surprised that didn't qualify us, as we weren't sure at the time if either of us carried the gene). Anyways. Initially I got a bill for like thousands of dollars, which is what they billed my insurance and my insurance denied it. Then they sent me a corrected bill for a lesser amount. Still a lot---if I'm looking at the correct receipt it was about $650 🙃 needless to say, I don't think we will be opting in to NIPT this time around. I do  think it counted towards my deductible but I can't recall that....and my husband got a new job/new insurance 1 month before my son was born so we started over from scratch with our deductible/out of pocket costs lol

nsk489

@shoogapoff I can't believe they had the sex listed on the results if you were team green! When I had mine done, there was a box to check to say I did NOT want to know the sex....so no way to accidentally see it on the results! Thank goodness lol

acleverusername

@shoogapoff OMG... hahaha. I totally understand the dissonance of ppl knowing something only YOU knew of 9 months. It's like when a big secret is finally made public. Hahaha. I didn't even think about that. Oh well, I think it'll add to my enjoyment of pissing off my friends/family. 

acleverusername

I found this really great video series from the Washington State Department of Health on various genetic testing options. Highly recommend watching them all or just ones you're most interested about. 

1. How to Decide About Prenatal Genetic Testing
2. What Conditions are Commonly Tested for During Pregnancy?
3. Prenatal Cell-Free DNA Screening (cfDNA Screening) -> this is the NIPT test
4. Maternal Serum Screening (MSS) (aka "First Trimester" or "Second Trimester" Screening)
5. Prenatal Ultrasound
6. Amniocentesis
7. Chorionic Villus Sampling (CVS)

iiirene

@babyrsmom63 during our first appointment our midwife gave us the name of the companies that they use and said we can call them to find out if our insurance covers NIPT and will give us a cost estimate.

shoogapoff

@nsk489 When I looked up the initial results, I could choose to see with or without the sex listed. But the version that was uploaded to my patient portal was the full version with the sex included. I was looking at some other random lab results and accidentally scrolled too far. I knew it was in there, and had been super careful not to accidentally see it when I'd looked at other results in the past, but somehow that day I wasn't careful enough. I literally threw my phone across the room when I realized (not like an angry throw, more like "get this away from me!") I was really upset at first. But honestly, I realized afterwards that I needed to mourn the fact that I wasn't going to have a daughter. (Our son was our only embryo, and until this spontaneous pregnancy, I didn't think it was possible to get pregnant on my own). So it was probably for the best. 

etnyah

Had my genetic consultation today and I’m scheduled for NIPT Friday next week! She’s just going to double check that they actually do screen for my son’s specific mutation first, which I’m pretty sure they do because he has one of the more common ones (there are thousands and they’re still being discovered). She said results should come about two weeks after that. 

We also set up a third-tri US to screen for physical manifestations that usually aren’t detectable yet at the anatomy scan. Sounds like we have a plan!

v_flowers

I’m scheduled for my NIPT bloodwork tomorrow. Unity is the genetic screening company that my doctor’s office uses. Has anyone has any experience with them? I am a BALL of nerves. This is a major milestone we are hoping to clear before feeling more assured about the pregnancy. I’ll be 11w6d, so I really hope that I’m far enough along to get clear and reliable results. 

etnyah

@v_flowers no experience with that company specifically, but you’re definitely far enough along! Without a doubt. Fingers crossed for speedy and low risk results!

My NIPT and NT scan was moved to Thursday this week, it was supposed to have been two days ago but Covid messed up my plans. I just wanted to see baby again. Oh well, hopefully they’re still doing ok in there!

v_flowers

@etnyah Thank you so much for the well wishes! I’m so sorry that you’ve had to wait those extra days to peek in on the little one. The waiting between appointments is the worst. Hopefully the next few days will fly by for you! 

I just feel like I’ve been holding my breath for this entire first trimester. One milestone at a time…

peachring87

Hi ladies, so i did my NIPT test right at 12 weeks. The dr office called me today and said there was not enough DNA in my blood to get any results from my test. I have to retake at 13w3d said if no results again have to see a specialist. Has anyone gone through this? My first pregnancy, so kinda nervous. 

gingerbunny23

We were originally slated to have blood drawn for the Natera tests last week, but had to postpone due to being sick. So, we had that done Monday (@ 12w1d) and are now anxiously awaiting results....

@peachring87, I can't claim any personal experience with that situation (this is my first pregnancy as well), but I'm keeping my toes crossed that your redraw provides clearer results soon! 

trubaby411

We just got our NIPT results back, and everything came back very low risk!! Big sigh of relief. Next up, NT scan next week. Every little milestone helps me maintain some level of sanity. 

gingerbunny23

@trubaby411  - congratulations, that's such great news! If you don't mind my asking, which company did you use for your NIPT, and how long did it take before you got results? (I'm trying to be patient, I swear! )

trubaby411

@gingerbunny23 it's so hard to be patient! I get it. We also used Natera. They received my sample on 9/24 and I got the results from my midwife today. I hope you get yours soon!! 

etnyah

Just had my NT scan and blood draw for NIPT, finally! NT measurements were well within normal range and I was so relieved to see baby wiggling around in there after my Covid bout. A week or two for results, fingers crossed all is normal!

ladyofarlington

Both my NIPT results and today’s NT Scan look great! I am so incredibly relieved! Look forward to sharing the news with DD and our families this weekend! 😊

acleverusername

Yay! Such great news all around!

gingerbunny23

NIPT results this morning look like our little one is healthy and doing well! 

trubaby411

NT results look great today. Baby is measuring a couple days ahead of schedule and was moving all around. This was the first time we've been able to see movement, and it just warmed my heart so much! 

v_flowers

We got our NIPT results back and everything is low risk! We are so thankful, and I feel like a huge weight has been lifted from my shoulders! We also found out that we’re having a baby girl! 💕

scaredunprepared

@v_flowers that's wonderful news!

etnyah

@v_flowers yay!! Congrats on a healthy girl!!

Would anyone be interested in a sex reveal thread? Looks like plenty of us know what we’re having now (not me, still waiting for NIPT results), would be cool to have a tally! And for those who aren’t doing testing, somehow anatomy scan time isn’t far that away (how???). I’m also curious about how many team greens are out there, it seems like way more than in my last group! 

nsk489

@etnyah my last BMB had a little spreadsheet that had everyone's username, FTM/STM/STM+, age (if they wanted to share), location, and then we updated with gender when/if we knew. It was nice to help keep track of who is who!

ETA: It also included due date (duh, idk how I forgot that)

acleverusername

@etnyah thank you for calling it “sex reveal” lol. I have friends asking me “did you find out the gender?” to which I reply “I reckon it will be a couple of decades before we know that. 🙄”

acleverusername

@nsk489 maybe we can save that until we go private or FB? Btw, when does that typically happen? 

nsk489

@acleverusername most that info we have already shared on here anyway 🤷‍♀️ it was definitely nice to have it all in one place. Then we updated with more personal info (if people wanted) when we went to a private group (ie. Name, actual birth date of baby, baby's name, etc). I think we switched over sometime in Jan for a May due date. We also did a private FB group but waited til all the babies were born, since we did have 1 or 2 that would not be joining FB

etnyah

@nsk489 ohhh the spreadsheet! I vaguely remember that. I have no idea how to set up one, but it would be useful.

@acleverusername you can leave out as much information you want to if you’re not comfortable! We didn’t include anything too specific like last names or exact location iirc, first names and state/country was as specific as we went. Now that we’re in a private FB group we have exact addresses etc, which is useful when we do stuff like secret Santa and birthday present/book exchanges for the kiddos. Some people are still not comfortable sharing even in the private group, and that’s totally fine.

scaredunprepared

Did my cell free dna test today.  Results I think take 1-2 weeks.   So just waiting.  Not finding out the sex though!

etnyah

Grrr. Invitae said 5-7 days for results and it’s now day 7, no results. So I’ll have to wait till next week. Stop giving people false hope!