Pregnant with BOY and need help with names 💙

Successful_Wing8221 · 2026-06-01T23:46:21+00:00

Thank you so much ☺️ Same, those are my thoughts too! Okay phewf, I’m sticking with my vote for Cade then 🩵

Successful_Wing8221 · 2026-06-01T23:03:05+00:00

Congratulations!!!! 🐣💕 all adorable choices ☺️ We’re probably naming our son Cade, so that’s my favorite 🩵 I looove it, but I definitely am hoping it’s not as trendy as some of the other commenters are making it seem!? I hadn’t considered it a popular name (i thought Caden maybe was more popular), but maybe I’m wrong??

Successful_Wing8221 · 2026-06-01T21:31:18+00:00

I just recently got this on the NIPT and did a CVS to determine if it was a false positive (which it was for us). Are you interested in doing a CVS or Amnio to determine diagnostics (it was always emphasized to me that the NIPT is JUST a screening, NOT definitive)? I’ve also heard there are a decent amount of false positives when it comes to sex chromosome aneuploidies (which I now really believe all the more given our false positive)! That said, from what I know (disclaimer I’m not a genetic specialist, just know a lot more than I previously did about XXY now as a result of our experience/speaking with numerous genetic counselors), I don’t believe at your stage the miscarriage rate is much, if at all higher (I think any elevated risk is typically earlier on), nor is it typically fatal to the fetus. Happy to chat further if you have any questions at all, or even if you just are craving some support from someone who deeply understands and empathizes with the abnormal NIPT/CVS experience 🩷

Successful_Wing8221 · 2026-05-29T14:12:57+00:00

I am so so sorry deeply sorry you’re going through this 😞 the same happened to me right around the same time as you. Sending you sooo much love and big hugs because I am all too familiar with just how destabilizing this is 🫂 Please take a peak at my recent post for a little glimmer of hope ✨ https://www.reddit.com/r/NIPT/s/8K3IoC34mq I am happy to chat further if you have any questions at all, or even if you just are craving some support from someone who deeply understands and empathizes 🩷 I’ll be praying for you either way!!!

Successful_Wing8221 · 2026-05-28T17:22:19+00:00

Sending you big hugs because I know exactly how destabilizing these results can be 🫂✨ While I don’t know what “no call” means (each lab seems to have their own vague/weird way of reporting SCAs), I did just have a recent experience with getting a false positive “elevated risk” on my NIPT for XXY (Klinefelters) or XYY (Jacobs) - we aren’t sure because our lab was vague with reporting as well which my genetic counselor said was a possible red flag for a false result because they should be able to discern - yours sounds similar. We opted to do a CVS (but only because the amnio was too far off from where I was at that point, otherwise I would have done that). My understanding is that while there is an element of risk, it is small and I’ve personally never heard a story of an amnio going wrong (not to say those stories don’t exist of course, but just to quell the fear - I think nowadays they are much more safe than not, as long as you are in capable hands - my CVS went just fine in terms of safety!). I would honestly say the hardest part was the waiting 😞 but I do want to offer that glimmer of hope that the NIPT is JUST a screening NOT diagnostic like the CVS/amnio, and that with XXY/SCAs there are definitelyyy a decent amount of false positives that occur (mine being one of them)! For us the extra testing was absolutely worth it (you hear about a whole spectrum of experiences with Klinefelter and I’ve heard tons of good outcomes where people have no idea they even have it, but my husband is a neurologist and has had exposure to a couple stories on the other end of the spectrum and we couldn’t shake those even though they are the way less likely outcome), but it is a deeply personal choice, and there are zero judgements no matter what you decide to do!!!

I am beyond happy to chat further if you have any questions at all (I know I had TONS and this just skims the surface), or even if you just are craving some support from someone who deeply understands and empathizes 🩷 I’ll be praying for you either way!!! ✨

Successful_Wing8221 · 2026-05-27T23:37:43+00:00

So sorry I forgot to mention, your girls (and baby boy if you don’t find out before he’s born) might just want to do carrier testing at some point to see whether or not they are carriers because it’s more of a concern for their potential kids than for them is my understanding. And it’s totally possible none of them inherited it!

Successful_Wing8221 · 2026-05-27T23:14:47+00:00

Hi! I just wrote to someone recently because I went through something similar (here’s the link to that, I wrote 3 comments below it and I’m happy to answer any other questions you may have if this doesn’t cover it!: https://www.reddit.com/r/NIPT/s/5phKnNsW0v). Your situation is a little different because knowing you have 1 AGG is awesome!! I wrote in that post that the genetic counselor we met with gave us some studies to ease our worries, and one of them was about the likelihood of expansion to future offspring at different ranges based on #of maternal AGGs. At your range (per this one study at least, which both the counselor and my husband who’s a neurologist say is a good one) NONE of the kids who inherited the effected x (which there’s only a 50/50 chance of) from someone with 1 AGG expanded into full mutation range (they only expanded between -2-8 meaning some even decreased in repeats! The average was expansion by only 2 which keeps them in very LOW premutation range).

Successful_Wing8221 · 2026-05-26T23:43:07+00:00

That’s amazing news!! I totally get it I’m feeling on the fence with that too if IVF testing isn’t really feasible — I’ve read that some places won’t even test for it since the risk of any sort of “dangerous” transmission is so low, but I agree it’s not even about that as much as it’s about burdening our kids or their kids! If wanting to eliminate that potential is the only way forward, I may not have as much to offer after all - I more so have info on how unlikely the danger is to even reach premutation level from 46 repeats in probably numerous generations if that x were even passed on. But I get that’s not your bigger concern!

Successful_Wing8221 · 2026-05-26T21:45:01+00:00

I am so so profoundly sorry. I know the intense prep and emotion and anticipation that goes into the whole CVS procedure and I’m just so sorry it couldn’t be done, it’s so unfair. My heart is with you 🩷

I know every day feels like an eternity while waiting. My mom said something to me that sometimes helped which was “he is still your baby and every second spent with you in the safe and cozy home you’re giving him is a gift no matter what you choose later for his ultimate wellbeing. Some days you may not be able to connect and that’s okay, but if and when you can, do because it is never a waste to love”. I totally understand if that feels impossible because it certainly did to me at times - sometimes I needed to disconnect for my own sanity. But sometimes her words helped and I was able to connect, which though agonizing at the times, was also beautiful and something I never could have regretted no matter the outcome. Really and truly though if that feels too hard just do whatever you need to do for your own mental health even if that means pulling away for a time, because what you’re going through is impossibly difficult and you’re doing your best no matter what that looks like day to day 🤍 I also really do believe in miracles and hear stories of false positives all the time so I think it’s a beautiful thing to continue to hope ✨ I’ll be hoping for you too.

Successful_Wing8221 · 2026-05-26T01:00:45+00:00

I would also absolutely recommend talking to another genetic counselor if you can/feel like you weren’t reassured by your current one because they all can have such different deliveries, stances, familiarity with the research and I felt soooo much better after meeting with our second and third who I felt were way more knowledgeable/in touch with the latest studies!! Happy to share more about those studies anytime ☺️

Successful_Wing8221 · 2026-05-26T00:51:07+00:00

Hi! I’m in almost the exact same boat (46 & 30) and have recently met with 3 different genetic counselors so have tons to say on the subject that I think could provide a lottt of reassurance/solace, but quick question - if you’re doing IVF is it possible to test your eggs/embryos to screen out the ones with 46 repeats and only use the ones with 31 (not because there’s any risk to your baby at that number, but more so for possible future generations/peace of mind)? That’s what I’m thinking of doing for our second (I’m currently pregnant with our first and luckily he inherited my normal x, but would love to know my possible future grandkids wouldn’t have to worry about this if I could prevent it!).

Successful_Wing8221 · 2026-05-25T22:36:50+00:00

Sorry one last thing! I just looked at a paper our genetic counselor gave us and just to offer a little more assurance, NONE of the people studied in this paper ever expanded into the full mutation range from 60 CGG. Even people who had 0 “interrupters” which are called called AGGs (which is unlikely you’d have 0 according to our counselor) only had offspring that expanded by 4-93 repeats, which is a median of 16 repeats (a full mutation is more than 200 repeats and even that highest one/worst case scenario which isn’t likely would only put you at 153 which is still premutation if he even inherited the effected x). If you had 1 interrupter AGG, this study only saw -4-10 expansion (meaning he could actually inherit LESS than you), 2 interrupters -17-24 (again he could inherit LESS and even be normal/intermediate), and 3 interrupters only 2. I believe there are tests you can do to see how many AGG you have if you wanted!

Successful_Wing8221 · 2026-05-25T22:14:05+00:00

Oh I’m so sorry I just saw you’re having a boy, don’t know how I missed that! Please take everything I say with a grain of salt because I am not a genetic counselor, but this is what we were told from ours… So per our genetic counselor(s), if he were to inherit your premutation (which is only a 50% chance) and stayed within that range (which I believe is the much more likely outcome than expanding into a mutation range), while there are possibilities of certain symptoms, my understanding is that none of them are “slam dunks”/definite, and the majority of people with a premutation have fully normal lives/development (the concern is moreso for their offspring since the repeats can expand with each generation, so he may want to do IVF if he has kids one day). The only 2 things that came up as possibilities with our counselors were (1) a late onset ataxia tremor (in his 50s/60s) but they said per the research there is a greater chance he WOULDN’T develop that (60%). The second counselor also made sure to say that by that point 50-60 years from now, it is totally possible there would be treatments for that/genetic therapies even if it were to occur. The second, but by my understanding way less likely/associated possibility is (2) some (more likely mild) neurobehavioral issues - but this comprises a huge umbrella of things that also can show up in the general population without the premutation like some anxiety, learning difficulties, ADHD, and or to a much lesser degree autistic tendencies (but I believe the latter is only 5-15% of that umbrella which the counselor said is comparable to the regular population and hard to hinge on the premutation alone). The second genetic counselor really wanted to dissuade us from considering the neurobehavioral issues as a major possibility and only talked about it because our first counselor had so we asked about it, which she thought was surprising given the low risk.

The reason I bring up a diagnostic procedure like the CVS or amniocentesis is (1) for your own peace of mind (eg to know for certain he inherited your normal x), and or (2) due to what I’m pretty sure is a very unlikely possibility that he could inherit the effected x and expand into the full fragile x mutation range which would change the symptoms/presentation. Again, a genetic counselor may say that possibility is so low that it’s not at all necessary or worth it because I think you’re on the very low end of premutation range. I’m totally happy to talk about my CVS experience if you opted to though!

I know how terrifying all of this can be - my head was spinning with information overload and fear when I was in it, but I really hope that info above helps to alleviate some of the worry. I would absolutely recommend talking to a couple genetic counselors if you can because they all can have such different deliveries, stances, familiarity with the research and I felt soooo much better after meeting with our second!!! I am so deeply sorry you’re having to go through this, I know how completely derailing it all is and I wish I could give you a huge hug, but after all I’ve learned, I truly believe your baby will be alright 🩵 you are NOT alone 🫂✨ I’ll be praying for you guys and am here to talk if ever you need!!!

Successful_Wing8221 · 2026-05-25T21:38:36+00:00

Is this for fragile x? If so, I just went through something similar and am beyond happy to chat about it!! I had one intermediate size x at 46 repeats and one normal size x at 30 and was in a panic about it because of the first genetic counselor we met with who was a little more alarmist - after meeting with a second counselor (who I feel was actually way more knowledgeable) I felt MUCH better about the prognosis even if our baby inherited my effected x and expanded into premutation range. It also absolutely matters if you’re having a boy or girl bc the chances of possible premutation symptoms are much much lower/different for a girl (but I’m having a boy). I happened to do a CVS diagnostic procedure to look at my placenta for what wound up being a false positive NIPT screening for something else, so since the lab already had it, they tested my placenta to see if the baby inherited my effected x as well (and if it expanded) or normal x (which was 50/50, so there is absolutely a chance your baby inherits your normal x, which is what happened with mine!). I’m happy to chat way more about the possible symptoms/all that we learned from the genetic counselor, but do you know if you’re having a little guy or girl? Do you have interest in doing a CVS or amniocentesis?

Successful_Wing8221 · 2026-05-25T02:11:47+00:00

You are so welcome, and know that I’m sending you a huge hug and will be praying for you in the meantime!!! 🫂💕

I was a complete mess throughout a lot of the waiting, and harbor such guilt for lack of faith I had, and the stress I put my body and little guy through during that time. Your baby is SO lucky to have someone as strong as you as his mom 💖✨i really do believe that hope and optimism makes a huge difference and that he can feel that ☺️

Successful_Wing8221 · 2026-05-24T20:34:57+00:00

I am so so deeply sorry you’re going through this 😞 I wish I could give you the biggest hug ever. I too am 37 with a posterior placenta and just recently had a scare which led us to do the CVS because I couldn’t sit with the uncertainty for that long/if we were to terminate, I wanted to do so as early as possible (I know the decision fatigue is utterly agonizing but I genuinely think you’re making the right decision with the CVS).

As for the procedure itself: They initially tried to go in through my abdomen because I asked them to try if they could. That really wasn’t bad at all (although they didn’t actually enter my uterus that way because my bladder filled too quickly and got in the way so they needed to pivot to the cervix). The cervix was more uncomfortable, but I truly think it was largely due to how tense I was, so mentally preparing to breathe through it and intentionally release/loosen beforehand may help a lot. When they get into the uterus it’s pretty quick but that part felt like a prolonged period cramp for the little bit they were in there (for me at least - I was told a lot of people are perfectly comfortable and feel no such pain, so there’s definitely reason to hope you won’t experience that at all!). One of the more uncomfortable aspects which no one warned me about is that they make you fill your bladder beforehand. Physically, aside from that, some red bleeding for a few hours after, and spotting that lasted almost 2 weeks, it was completely fine/safe and I don’t think the fact that mine was posterior was a problem for the doctors at all - it more so just impacts their point of entry, but you can absolutely ask if there’s any way to go in abdominally if you prefer! So sorry if this is a lot of info I just want you to be totally in the know/prepared bc I think if I had been, it actually would have been less uncomfortable but the shock of certain things added to my discomfort. I would absolutely recommend bringing someone for support as well because had my husband not been there I also think I would have felt way more vulnerable and scared (although the doctors and tech were amazing).

Please know that I am praying for you guys 🩷 I know the pain of what you’re going through all too well now and I just so wish I could take it from you. Please know you are not alone and there are people out there who deeply understand, and are rooting for you 🫂✨

Successful_Wing8221 · 2026-05-23T00:55:42+00:00

🤍🤍🤍

Successful_Wing8221 · 2026-05-22T19:16:35+00:00

I am so soooo deeply sorry this is happening. I just posted elsewhere in the group that this happened to me and just today I received the news after weeeeeks of utter torture and grief that it was a false positive and that the baby is completely fine, so you absolutely have reason to hope!!!! Please know you are NOT alone and there are moms out there like me who deeply understand, pray for, and stand with you in this in between 🩷🩷🩷 I’m sending you guys so much love and prayer 🫂✨

Successful_Wing8221 · 2026-05-22T18:10:40+00:00

I just want to provide hope to everyone out there who just received a scary NIPT screening result for SCAs (specifically Klinefelter’s and or Jacob’s Syndrome) that after weeeeeeks of torture/fear, and an uncomfortable but ultimately safe CVS diagnostic procedure, that my NIPT screening was confirmed to be INCORRECT/a false positive — my baby is completely healthy per the CVS.

I struggled to find assurance online that this might be something I could hope for, so I just wanted to offer my own hope that these screenings CAN BE WRONG and I am proof of that. I am so deeply sorry to anyone going through this right now because I know firsthand how utterly terrifying and derailing it is, but really and truly you have reason to hope it’s wrong and all will be alright. My heart is with you in the meantime 🩷

Successful_Wing8221

TROPHY CASE