April 2023 Moms

Genetic Screening & Testing Thread

2

Re: Genetic Screening & Testing Thread

  • Loading the player...
  • @etnyah that's awesome!  Congrats!  I was wrong with my daughter, I thought for sure she was a boy, and I was so ready to be a boy mom!  Lol  With my 2nd, my pregnancy was SO different I knew it just had to be a boy (let's just say the armpit BO gave it away...I was like, um that's definitely because of some extra testosterone from SOMEWHERE!!!  LOL)
  • @scaredunprepared ha! Last time I assumed it was a boy mostly because of family history, my husband comes from multiple generations of only-child boys on his dad’s side. They all look identical to each other too, nothing like the moms. And that turned out to be true for our son as well, except he’s the first one to not be an only child!

    My husband is in complete shock that it’s a girl. No one in his family have girls. He was convinced it would be a boy this time too.
    DS born 2/18/2019
    DD born 4/1/2023
    Baby #3 EDD 11/21/2024
  • @etnyah that's too funny!  My family is the opposite:  all girls!  I guess I should have expected our first to be a girl with that history, but we were all definitely shocked that our second is a boy.  Everyone is so unsure of what to do with a boy!  😆 
  • @etnyah Wonderful news! I know you must be over the moon! 
  • enw1028enw1028 member
    edited October 2022
    @MsBeachNJ I'm in the same boat - the waiting game for results! We just did ours today as well! Let's hope ours both come back quickly and without issues! :) 
  • @enw1028 fingers crossed!! 
    TTM - EDD 4/23 - Team Green <3 
  • @etnyah that's amazing news! So glad to hear it! 
  • @etnyah that is great news!
  • @etnyah that's great news!  Though, I'm sure baby would have been loved regardless.  Glad you feel you can breathe easily now.
  • @etnyah what wonderful news!!! Such a relief, so happy for you!
    TTM - EDD 4/23 - Team Green <3 
  • @etnyah it is unfair.  You as a parent want to protect them at all costs, so knowing things will be harder just sucks.  

    The way you explain it makes a lot of sense.  No one else wants their child to struggle. Of course in a perfect world they wouldn't have to because every space would be universally accessible and  accommodations would be made automatically to provide equity for all.  Not to mention people would have open minds and no pre-conceived misconceptions!
  • @scaredunprepared exactly! Especially because my son’s disability isn’t obvious just by looking at him. I feel like people are more accepting of visibly disabled people, if you make fun of someone in a wheelchair or someone with Down’s syndrome, everyone will (rightly) think you’re a major asshole. Not always though, they deal with stuff I don’t deal with, like staring and well… there are a lot of rude people out there who don’t care if you think they’re assholes. Still, a lot of people have no issues judging my son for what they consider to be bad behavior, and then me for being a bad parent, without having a clue.

    And then there’s stuff that would still happen in a judgement-free and perfectly accessible world, like pain and seizures and failing organs followed by countless hospital visits and medications and sky high medical bills. Definitely not all fun and games!
    DS born 2/18/2019
    DD born 4/1/2023
    Baby #3 EDD 11/21/2024
  • @etnyah I hadn't even considered the pain, and hospitals, and organ problems, and bills!  I'm so sorry. 
  • @scaredunprepared thank you, we’re very luckily in a great spot right now at least! No organ failure yet and fingers crossed for never. For now monitoring is all that’s needed, so he gets regular checkups and that’s it. He’s been stable for two years (seizure free two years as of last week, yay!), hoping to keep it up!

    It’s an extremely variable and unpredictable condition though, some people never need any medical intervention and some basically live at the hospital. 
    DS born 2/18/2019
    DD born 4/1/2023
    Baby #3 EDD 11/21/2024
  • @MsBeachNJ which lab did you go through? With Invitae, you couldn’t see the sex unless you clicked on a specific button (and it would ask “are you sure you want to know?” when clicking it). So, if it’s Invitae it’s safe to open the results, the trisomy screen results are front and center! If through somewhere else then yeah, maybe don’t risk it.
    DS born 2/18/2019
    DD born 4/1/2023
    Baby #3 EDD 11/21/2024
  • @MsBeachNJ yay!! That’s amazing news, I’m so happy for you!!
    DS born 2/18/2019
    DD born 4/1/2023
    Baby #3 EDD 11/21/2024
  • @MsBeachNJ oh god I bet. I feel like they up the age scare tbh. I know the risk is higher too but it seems so random who actually ends up with a baby with some sort of condition. 

    I know this is anecdotal evidence but all the moms I know, including myself, who have kids with a chromosomal condition had them earlier (late 20s/early 30s) and I know soooo many 40+ moms with healthy kids. It really is mostly down to luck it seems like. 
    DS born 2/18/2019
    DD born 4/1/2023
    Baby #3 EDD 11/21/2024
  • @aimeeps1212 yay that’s great news!!! I also did Natera (not their regular nipt, the other one) and while I found out the results from my doctor last week, the results didn’t post on my account with them until this morning. They seem kind of slow on the digital stuff!
    DS born 2/18/2019
    DD born 4/1/2023
    Baby #3 EDD 11/21/2024
  • edited October 2022
    Finally saw my NIPT results posted to my OB portal.  Qnatal was the test?  I have never used them before, I have only ever used natera, the results of which are very easy to understand.  The results for this one are very confusing, so I called the OB to discuss.  The fetal fraction was also pretty low (4.4), but above the cutoff of 4.0.  Not sure if that is significant or affects the results at all.  It looks like everything was negative, but they only tested for 3 chromosomal abnormalities, as opposed to natera which tested for lots of other stuff from what I can recall.  I just feel like maybe it was a waste.  I know my insurance won't cover another test, but I definitely don't recommend this company!  Maybe I just need it explained better by my OB?

    I want to breathe a sigh of relief, but I just can't until I better understand what I'm looking at.
  • @scaredunprepared from what I understand, the higher the fetal fraction %, the more accurate the results are, but it only counts for so much. If it’s above 4%, it’s enough to get a really good reading. 

    The regular NIPT I did also only checked for three things, I mostly decided to only do the bare-bones one because those three conditions are more common than anything else they test for, and the price increased significantly with more conditions added on.

    To me your results sound great! Even with NIPT, there’s no way to test for every condition out there. There are so many rare conditions, at one point you just have to draw the line and hope for the best, and statistics are on our side. Definitely talk to your doctor, but I think it’s safe to be relieved!
    DS born 2/18/2019
    DD born 4/1/2023
    Baby #3 EDD 11/21/2024
  • @scaredunprepared I'm sorry you're feeling left without answers, I believe my NIPT also only tested for 3 things (Downs syndrome, Trisomy 18 & 21?) They offered a more extensive test but I declined, saying that we would do more extensive testing if anything came back concerning from the scan or initial NIPT. 
    TTM - EDD 4/23 - Team Green <3 
  • I’m stilllll waiting on results! Had blood taken 10/12, they received them 10/15 and just paid Natera today the cash price since insurance doesn’t cover. Hoping that means I get a call from my dr by end of the week with results + gender! 
  • @etnyah thank you.   And you make a good point.  Honestly, I don't think I would do anything differently even if we got concerning results unless it was something that was .....tw......incompatible with life.  And that's after further testing and covering all our bases and looking at all options.  Baby will be loved no matter what. 

    @MsBeachNJ I guess I'm just surprised they didn't test for more because my other OB really pushed for the test to look at all things last pregnancy because I'm over 35.  I guess this office looks at things differently.  

    But I DID finally talk to the office and they said everything looked good and not to stress.  Low risk for everything they tested for, and highly unlikely there is something going on that they didn't test for, but it's never impossible.  I guess that's the best news I could have hoped for.

    I have a question about carrier screening or quad screen.  Has everyone had this done?  The new OB was asking about it and I have no idea if I should get it done or not.  All I know is that I am a carrier for cicstic fibrosis, but hubby is not. 
  • @scaredunprepared My husband and I both did carrier screening. My OB just did me initially when we first started TTC, and I wasn't a carrier for anything, so she said we didn't need to test my husband, because anything he could have would need me to also be a carrier. But then when we did IVF, we participated in a clinical trial which required both of us to be screened. So we know for sure neither of us is a carrier for anything they test for. (That being said, my husband does have a degenerative neuromuscular condition that is X-linked, meaning if we have a girl, she will be a carrier of it. It's not life-threatening, but it does impact some things). Personally, I don't think it makes much sense to do carrier screening after you're pregnant, unless there is a concern your baby might have a specific condition. The only time I've seen it done was when doctors were trying to rule out what a baby might have, by seeing if his or her parents carried a common genetic issue. 
  • @shoogapoff thanks you for explaining.  I think it seems pretty pointless at this point too, but also might help us mentally prepare if there is something to be concerned about.  Which I hope there isn't!  
  • @scaredunprepared Definitely. I'm all for being mentally-prepared. Whatever you need to do for peace of mind! 
  • @scaredunprepared I had it done for my first pregnancy. I didn’t know it was an option to do it or not i just thought it was a part of the normal first trimester bloodwork. My doctor said it doesn’t need to be done twice so I don’t need it done for this pregnancy.
  • @scaredunprepared I did carrier screening with my first pregnancy bc I have a nephew (on my husbands side) with cystic fibrosis. My husband and I had done 23andme years ago, which said he is a carrier for CF but I was not. I wasn't sure if we could 100% trust that test, hence why I opted to do carrier screening during my first pregnancy. My doctor said no need to do it again
  • Anyone out there do Harmony Dynacare? They say results will be available within 5-10 business days, but that window has already passed and still nothing. I asked the midwife yesterday and she said it would often be 14 days. So I guess we're almost there, but it's definitely frustrating to pay hundreds of dollars out of pocket and then have to keep waiting beyond the time frame the company gives you. Curious how long it's taken for others who did this test! 
  • @scaredunprepared same as @iiirene - had it done with my 1st, no reason to redo it as we were not found to be carriers of anything. 
    TTM - EDD 4/23 - Team Green <3 
Sign In or Register to comment.
Choose Another Board
Search Boards
"
"