Thank you all. I'm feeling lucky to have found this group. I'll go to today's appointment, but if the clinician can't answer some uncomfortable questions about trust and bias I'm not going to let them do much. I'm going to try to talk them into a referral to a non-Kaiser facility, but I doubt they'll let me. If not, it's a question of whether we can pay out of pocket or whether I'll have to continue to deal with this.
First time mom-to-be, due 9/25/22
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
@lilienne I’m sorry your going through this stress and uncertainty! We will be here to support you in anything you need from us. I’m hoping and praying that the appointment was better for you and they were more thoughtful for you and your situation.
We went through with the CVS, despite me having reservations. (If anyone else here will be needing one, feel free to ask me about it - it was scary and a little painful, but really not all that bad.) Staff were sympathetic and straightforward. I still don't want to work with Kaiser long-term, but the general consensus was that I'm going to get pushback when I ask to switch providers. We can't really afford to hold on the CVS until someone helps us out, so now we're staring at the count-down clock - about 2 weeks for results.
First time mom-to-be, due 9/25/22
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
@lilienne you are so brave. I went and read about the CVS at you spoke of it. I hope you're able to switch if need be. Having doctors you can trust means so much.
@lilienne thinking of you and sending you all of the best vibes! I hope everything turns out alright. I recently had a friend who had a false positive and her stress was absolutely unreal. I couldn’t even imagine. Then the CVS results explained that all was well. She welcomed her healthy baby last week. I am hoping and praying you have the same story and a healthy babe on its way.
Living in Ontario and my doctor calls the week 11-13 US and blood work the screening appt. Is this the same thing as NT/NIPT? Or are these something completely different that I would opt for? Also they don't post the blood work results I have to wait until my appointment next week for my doctor to let me know.
Could be the same thing, but in the U.S. both the NPT and the NIPT are opt-in situations.
Current pregnancy - First BFP on 1/4/22. Due date 9/13/22.
Four prior losses, no living children - 1 first trimester miscarriage, 1 blighted ovum, 1 chemical, and one extreme premature live birth daughter who died at 15 days old.
@nightknight I’m in Costa Rica and that’s what my doctor calls it also and it’s considered routine. He specifically mentioned “to look for down syndrome or genetic abnormalities” so I think yes. When I was in the US I don’t even remember these tests being offered.
I just got back my NIPT results. Everything was low. Very thankful as I wasn't planning on doing it, but it wasn't really given as an option she had the form filled out already at my appointment so I was just like this is something I have to do I guess, even though I know I could have told her no. I figured something would be flagged because of this but it looks like we're good. I hate that my results weren't posted to Natera first because I would prefer just to read them, I hate talking to people on the phone .
Just got my NIPT results back and the NT (re-do) scan from Friday. Everything is looking healthy and low risk. And we're having another boy. Will have fun news to share with family and friends this week
It just keeps getting weirder...but at least this time the news was delivered by a competent and kind geneticist. CVS results showed placental mosaicism, which means that the trisomy is present in the placenta but may or may not be present in the fetus. She says there's not a ton of research, but the studies she found say 30-45% of the time our CVS result does end in a child with Down syndrome. The only way to know for sure is an amnio, which can't happen until partway through week 16 and which will take 1-2 weeks to yield results.
So, on the upside I now have a 55-70% chance of a child without a chromosomal abnormality. The downside is I won't know anything for certain until I'm 17 weeks, 3 days pregnant at the absolute earliest...not the best time for hard decisions. I can't keep moping around for weeks, that will drive me crazy and test my poor, wonderful husband to his limit. I think that means trying to be happy about this pregnancy even though it could still go badly wrong, so that's what I'm going to try to do.
First time mom-to-be, due 9/25/22
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
@lilienne you're welcome regardless of your emotional state. If that's happy, awesome. If it's not, we're here for you.
Current pregnancy - First BFP on 1/4/22. Due date 9/13/22.
Four prior losses, no living children - 1 first trimester miscarriage, 1 blighted ovum, 1 chemical, and one extreme premature live birth daughter who died at 15 days old.
@lilienne I'm going to play glass full and say that's great news! Your chances of having a typical baby is higher than having one with down's syndrome. I'm so sorry you'll have to wait for and do an amnio and don't have concrete answers, but I like your odds better. Also results came faster than expected so hopefully if you decide to go through with an amnio those results come faster as well.
You know we're here for you through creepy internet hugs, I feel very vested in your story. Still going to keep you in my thoughts as we go forward. ❤️
@jhysmath honestly, it's easier to talk to you folks about this than it is to talk with our family! I think it's something about knowing that you all have empathy for the situation, without having the added complications of familial hopes and dreams and pressure. I don't think I feel like it's "great" news, but I'm definitely feeling more optimistic than I was! And as much as we were hoping for a definite answer, I'm so relieved not have bad news that it feels like a good day.
First time mom-to-be, due 9/25/22
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
@lilienne because I didn't know much about mosaicism I did a bit of reading tonight. I found this interesting. It taught me a lot about it, but the hilighted part I feel is the best part of the whole thing.
@jhysmath that was a fascinating article, and rather hopeful as well.
Current pregnancy - First BFP on 1/4/22. Due date 9/13/22.
Four prior losses, no living children - 1 first trimester miscarriage, 1 blighted ovum, 1 chemical, and one extreme premature live birth daughter who died at 15 days old.
@jhysmath thank you! I hadn't seen that interview in my own research binge, and I really appreciate you sending it along. The geneticist we spoke with today says a) T21 placental mosaicism is especially rare and that the T21-specific stats aren't quite as sunny, and b) we won't know if this is "confined" placental mosaicism until we do the amnio. So I think our chances aren't quite as good as if we were certain this was CPM and the mosaicism indicated a different trisomy, but they're still a heck of a lot better than the odds we were told prior to this.
First time mom-to-be, due 9/25/22
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
@lilienne I'm hoping it is so rare that they're data isn't large enough to make good hypotheses and you get the best possible outcome and find out soon that it's actually CPM.
Also the fact that there is a chance she a tiny bit of info out there when I research binge gives me how for you and I hope you're holding on to that hope. My own research binge on both partial molar pregnancy and acardiac twins 2 years ago had very little positive outlooks, and I know how hard it can to be hopefull. ❤️
I have my NT on Wednesday. I feel like this baby is healthy and determined to be here. Completely unscientific. I’m nervous and excited.
I will echo what a great board this is. My husband said he’s not a fan of the online thing but I’m learning a lot and having good support without having to rely on local resources. I’m honestly probably better supported here than I could dream of being.
Current pregnancy - First BFP on 1/4/22. Due date 9/13/22.
Four prior losses, no living children - 1 first trimester miscarriage, 1 blighted ovum, 1 chemical, and one extreme premature live birth daughter who died at 15 days old.
@jhysmath I can only imagine how hard that research must have been...I'm sorry you went through it, and also glad to have an excellent researcher sending links my way! My husband and I came up with two (probably questionable) hypotheses for why we have so little info on T21-specific placental trisomies. One is that many parents in our shoes skip the CVS, which is the only way you would spot mosaicism - some of them terminate, some proceed straight to an amnio, and some turn down additional diagnostics. The other is that the trisomy rescue phenomenon discussed in that interview is something we evolved to avoid the really deadly trisomies, but T21 might still sneak through because it isn't quite as lethal.
I have no idea which of those would be true, and it's entirely possible we're missing another potential answer. I also can't figure out what percentage of placental mosaicism is "confined," as nearly every resource I'm finding focuses on confined PM rather than discussing the probability of that vs. other options. My head is spinning, and I'm considering looking for some genetics courses to take to try to brush up my very old understanding of how this all works!
First time mom-to-be, due 9/25/22
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
I recently got my nipt test results back and came up being a permutation carrier for fragile x syndrome with 31 and 57 repeats and 2 AGG interruptions. I was very nervous at first finding out this news but after speaking to the doctor I was told as long as the fathers blood comes back good and he’s not a carrier there is nothing to worry about for baby. I was just wondering if anybody had any similar results with there nipt and what it was like for you I’m still very anxious bc now we have to wait another two weeks to get dads results
@knottie - My understanding of Fragile X is that for boys it's completely determined by the mother, yes? If your husband was a carrier, wouldn't he likely *have* Fragile X since he only has one X chromosome? Or is there a hidden carrier status for men? Wiki tells me maybe the latter I guess.
I know we haven't had any women talk about testing positive for Fragile X carrier status. We do have one woman who had a positive result for Down's, but's obviously a different situation. The anxiety of the wait is the same though.
Current pregnancy - First BFP on 1/4/22. Due date 9/13/22.
Four prior losses, no living children - 1 first trimester miscarriage, 1 blighted ovum, 1 chemical, and one extreme premature live birth daughter who died at 15 days old.
@kboydbowman We are having a girl so I believe it will be one x from each of us. I’m not completely sure how everything works but we have appointment with the genetic counselor this Wednesday so hopefully they’ll help explain things better. My ob said that it’s not something to worry about bc it is considered low risk but it’s still very stressful not knowing for sure that every Is alright
The numbers I looked at online says odds are really low, especially for girls, so I'll hope that's a good sign for you! Two weeks is a long time to be in limbo though - that sucks.
Current pregnancy - First BFP on 1/4/22. Due date 9/13/22.
Four prior losses, no living children - 1 first trimester miscarriage, 1 blighted ovum, 1 chemical, and one extreme premature live birth daughter who died at 15 days old.
@lilienne I feel like I've learned so much just looking up and reading up what mosaicism is. That was never covered in my "making babies 101" course in college. We learned about the testing but never that the placenta and baby could have different DNA, never mind a person could have different DNA throughout their body.
@jhysmath we actually have a family member with Mosaic Turner and a friend who likely has Mosaic Down syndrome, so I was slightly more familiar...but yeah, the first time anyone spoke to me about placental mosaicism was before the CVS, when they let me know there was a 1-4% chance of an invalid result. (The geneticist later said 1-2%, which I think is more accurate?) It seems like that ought to be something they cover when discussing NIPS, too, since that testing also uses placental cells and not fetal cells.
First time mom-to-be, due 9/25/22
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
Had my NT ultrasound and genetic screening bloodwork today. NT ultrasound results were all normal, so that is encouraging. I know there are bloodwork results to wait for and then the comparative bloodwork and scan at 20 weeks, but I feel good having had this done. I look forward to seeing the bloodwork results.
@nightknight I'm in Ontario too and I *think* the test they are all talking about is something we have to pay out of pocket for (ranges from $400-800).
I did an IPS (I think it's called) between 11-13 weeks and it screens for the most common genetic items. Then you can choose to do this other one at any point. This one does a lot more and gives you the gender. It can be done any time after 9 weeks.
A friend of mine told me about it and I asked my GP, so that's how I know. Otherwise she would have never mentioned the more robust one to me. I'm not sure we'll do it, but we are still considering it.
@nightknight@babez_mom I was offered the NIPT in Nova Scotia and it is $100 out of pocket. What the doctor told me was that the NIPT is more accurate compared to the set of tests they do for the chromosome screening at the hospital. She gave me a kit and I have to arrange to go to a lab to have the tests completed. Afterwards, the kit gets sent to the U.S. for analysis.
@knottie I'm being pedantic, but where did your fragile X carrier result come from? That sounds more like something you would find on DNA carrier testing, rather than a NIPS, but you said NIPT so I wasn't sure.
@puppiesandbabies the NIPS is more accurate than the non-blood tests (NT scan and other ultrasound measurements), but there are lots of more accurate chromosome screenings available. The big plus to the NIPS is that it is non-invasive, whereas the more reliable diagnostic tests are invasive and come with a (small) chance of miscarriage.
Sorry folks, I know I'm being super picky about this stuff, but having learned the hard way, I feel the need to point out that it matters a lot exactly what test is being done, why you might choose it over another, and what the actual pluses/minuses are...and there are a huge number of medical providers who just quote the advertising shtick for whatever test it is, rather than actually doing their homework.
First time mom-to-be, due 9/25/22
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
@lilienne I so appreciate you sharing your knowledge! It's so important to be educated and advocate for yourself when it comes to your health. Too many people trust that their medical provider has their best interest in mind when they sadly don't
@lilienne I agree. For non-invasive testing, the NIPS is more accurate. This is why I mentioned screening and not diagnostic testing. In Canada, there is a specific set of tests offered to us for chromosome screening. This is generally offered to most women. These tests are generally not as accurate as the NIPS.
@lalarose22 I so agree with this also! The medical providers can only tell you so much. It's also important to do additional research and be your own advocate.
Re: NT/NIPT Discussion Thread
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
First BFP on 1/4/22. Due date 9/13/22.
So, on the upside I now have a 55-70% chance of a child without a chromosomal abnormality. The downside is I won't know anything for certain until I'm 17 weeks, 3 days pregnant at the absolute earliest...not the best time for hard decisions. I can't keep moping around for weeks, that will drive me crazy and test my poor, wonderful husband to his limit. I think that means trying to be happy about this pregnancy even though it could still go badly wrong, so that's what I'm going to try to do.
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
you're welcome regardless of your emotional state. If that's happy, awesome. If it's not, we're here for you.
First BFP on 1/4/22. Due date 9/13/22.
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
You know we're here for you through creepy internet hugs, I feel very vested in your story. Still going to keep you in my thoughts as we go forward. ❤️
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
https://healthfulwoman.com/podcasts/confined-placental-mosaicism-more-common-than-you-might-think-with-tamar-goldwaser/
that was a fascinating article, and rather hopeful as well.
First BFP on 1/4/22. Due date 9/13/22.
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
Also the fact that there is a chance she a tiny bit of info out there when I research binge gives me how for you and I hope you're holding on to that hope. My own research binge on both partial molar pregnancy and acardiac twins 2 years ago had very little positive outlooks, and I know how hard it can to be hopefull. ❤️
I will echo what a great board this is. My husband said he’s not a fan of the online thing but I’m learning a lot and having good support without having to rely on local resources. I’m honestly probably better supported here than I could dream of being.
I'm glad you feel that way!
First BFP on 1/4/22. Due date 9/13/22.
I have no idea which of those would be true, and it's entirely possible we're missing another potential answer. I also can't figure out what percentage of placental mosaicism is "confined," as nearly every resource I'm finding focuses on confined PM rather than discussing the probability of that vs. other options. My head is spinning, and I'm considering looking for some genetics courses to take to try to brush up my very old understanding of how this all works!
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
I was just wondering if anybody had any similar results with there nipt and what it was like for you
I’m still very anxious bc now we have to wait another two weeks to get dads results
I know we haven't had any women talk about testing positive for Fragile X carrier status. We do have one woman who had a positive result for Down's, but's obviously a different situation. The anxiety of the wait is the same though.
First BFP on 1/4/22. Due date 9/13/22.
We are having a girl so I believe it will be one x from each of us. I’m not completely sure how everything works but we have appointment with the genetic counselor this Wednesday so hopefully they’ll help explain things better. My ob said that it’s not something to worry about bc it is considered low risk but it’s still very stressful not knowing for sure that every Is alright
First BFP on 1/4/22. Due date 9/13/22.
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
I did an IPS (I think it's called) between 11-13 weeks and it screens for the most common genetic items. Then you can choose to do this other one at any point. This one does a lot more and gives you the gender. It can be done any time after 9 weeks.
A friend of mine told me about it and I asked my GP, so that's how I know. Otherwise she would have never mentioned the more robust one to me. I'm not sure we'll do it, but we are still considering it.
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
@lalarose22 I so agree with this also! The medical providers can only tell you so much. It's also important to do additional research and be your own advocate.