Can the Fragile X PCR test tell the gender? If I'm reading my results correctly they are negatibe and I think I'm having a boy 🤷♀️. My next appointment isn't until th 25th so I can't ask my doctor anytime soon. Does anyone know?
@blanket_girl thank you. This isn't easy, but it helps to hear so many non-judgmental, empathetic voices on this board. (Our family and friends are doing their best, but they all have their own opinions on what we should do.)
@crabbycakes01 I'm glad you got the news your husband hoped for, but I'm amused at him being so scared of possibly having a girl!
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!
We found out we're having a girl! We're both happy I always had a feeling I'd have a girl first and during pregnancy I felt it too. Like I was certain. lol
@lilienne I'm glad they're giving you both sides so that you can make an informed decision. That's so important. You normally only see the rainbows and butterflies side of down's syndrome children in the media and on social media. I'm so happy they're being real with you.
@jhysmath I got incredibly lucky - I sent kind of a careful email to a few groups saying "we really aren't sure what we'll do, I'm hoping to get information without too much bias." We got a reply within hours from someone amazing, who unequivocally said she's pro-choice and has no interest in pushing us one way or another, but offered to do a phone call and answer any questions we have. Such a huge contrast from Kaiser's "we can help you terminate before you even have final answers." There are definitely some amazing things that come with raising a child with disabilities, but you're 100% right about the rainbows and butterflies on social media, and I'm going to do my best to make an informed decision from non-biased sources, rather than falling for selective information from either side.
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 do genetic testing as my profession. And I’ve worked in genetic labs. My current company does prenatal testing as well. Please always get a second test if it is going to impact your decision with the baby. (As in termination or anything like that). Lab mistakes do happen (it’s a fast paced field and people make mistakes, and some companies care about profits over patients and sometimes that means speeding through testing and not checking patient samples correctly). Mix ups happen. It’s always best to check with a different lab than the one used for your initial testing (hospital should let you choose which lab you want to test your samples with). Make sure you are asking which lab is testing these samples. And the doctor should be able to request the lab to expedite your samples.
That being said while those tests do predict if your baby may potentially be at risk for Down syndrome, they cannot tell you the severity without in-depth testing which even then you really never know.
Luckily as others have said, there are amazing resources for parents with children with Down syndrome. Plenty of those children go off to live relatively normal lives. My friends son has Down syndrome and he currently graduated from college and now has a job and lives alone. He’s a very smart and sweet kid. Very independent.
Hoping for the best for you! Im sorry you’re going through this.
@bird_lady thanks for the input. We won't pursue a second round of NIPS, but the NIPS was done by Claritest's lab and the CVS will be done by Kaiser's lab. The NIPS is predictive and not diagnostic, but the CVS is diagnostic. Barring mosaicism in the placenta (which is detectable by CVS but which would make any diagnostics impossible) the CVS is our best avenue to a real answer. I don't see any point to trying to replicate the NIPS, and while we can do our best to ensure an accurate result, it really isn't feasible to do a CVS twice without doubling the risk of miscarriage/complication and waiting even longer for results.
I do understand that many children with Down syndrome do extremely well. My primary concern is that there is no way to know the degree of difficulty this child might face until we are much too far along to have any options available to us at all. Given the particulars of my situation (my age, my husband's age, other factors I prefer not to disclose here) I hope you'll understand why I have reservations about moving forward with the (statistically questionable) assumption that this baby would be as lucky as your friend's son. If I could be guaranteed that outcome, this would be a very different situation.
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 so sorry I didn’t see your previous comments that you got CVS done! You are correct, there is no point then in getting repeat testing since you are now getting CVS. Hopefully it comes back negative!
And totally understand! Whatever you and your husband decide is up to you both. I can’t imagine the difficulty of this decision. I’m sure you are getting lots of opinions (some not welcome I can imagine) and stories from people, like myself. Ultimately it comes down to your situation and what is best for you and your husband. Hopefully you have a support group with family and friends as well for whatever you both decide.
@lilienne she sounds awesome. I'm glad you found her, also I think I missed the statement from kaiser about just terminating, 1 I can't believe they said that, but at the same time my OB last pregnancy told me to terminate and scheduled it for the next day and told me the only way to be sure the pregnancy was molar was to test the material after the d&c... How livid and sad and everything else would I have been when they tested and told me I terminated a perfectly normal pregnancy and the ob was wrong. I'm so thankful for my second opinion from another hospital, the mfm, and the panarama genetic test I found that tested noninvasively for molar pregnancy which he didn't even know existed. My first appointment with the mfm they did an ultrasound and I told them from my research I didn't see what the Dr was calling molar because there's a distinct look to a molar placenta and mine looked funny but not molar, the mfm agreed with me and said she didn't see molar, but said it could possibly be something else, but nothing to terminate a wanted pregnancy for yet. She monitored me for an additional 8 weeks but told me to go on and have a healthy pregnancy.
With that comment from kaiser i understand why you didn't want the CVS done by them. I hope you get your other hospital soon and get far away from the doctors you've been seeing. My husband made sure to tell each person we saw after that ob that we are not to see him at all. Each appointment we went to he told them to make sure it was in my chart.
@jhysmath ugh, bad advice from people who should know better. So sorry you went through all of that! And yeah, the Kaiser geneticist a) gave me inaccurate information about the likelihood of a false positive (she said less than 1 in 100, when it looks like it's more like 1 in 5 or 1 in 10), and b) told me "most patients" don't wait for CVS results - they just do a NT scan and terminate if it looks bad. Which bothers me a lot, because NT scans can also cause false positives, and I'm no far along enough for it to be trustworthy. And this is on top of having a midwife email me to tell me that our results were inconclusive, 4 hours after the initial conversation with the geneticist. Sadly, that turned out to be a simple clerical error.
The one lucky thing for me is that the only reasonable human I've dealt with at Kaiser is my OBGYN, who is lovely. She's appalled at the number of missteps Kaiser has made, and she's the only one talking to us as if we have options that have not yet been predetermined. She has promised to hand pick the people who will help me with anything she can't do herself, which is a relief. I'm still hoping to get a referral elsewhere, but haven't heard anything back yet.
@bird_lady thanks for the reply, and sorry if I sounded snippy earlier. You're right, we're hearing a lot of opinions right now. The added info is helpful and necessary, but the opinions are a bit tougher to navigate.
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!
Well I'm glad you're direct ob is at least a good person and is listening and being helpful. I can't believe they just assume you must terminate when there's a chance it could be a false positive, or the fact you might decide regardless to keep the pregnancy. That seems so harsh to say just terminate. I hope the hand picked people are better.
@jhysmath I hope so, too. The perinatologist who did the CVS wasn't terrible, though I was really clear that I didn't want to hear anything subjective and she still gave me her opinion on the ultrasound. (It looked fine, but at not-quite-12-weeks that's pretty meaningless.) I'm just sad...braced for bad news, and hating the long wait until we know.
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 what does the count down look like? I remember this limbo feeling I went from 9 weeks to 18 weeks waiting for the mfm to tell me that it wild be a viable pregnancy. It went from molar to possible acardiac twin (which is more rare) and the acardiac twin can slowly kill the twin with the heart. Those 9 weeks I was like what's the point of following "pregnancy rules" this is likely not viable. That limbo sucks.
@jhysmath procedure was Friday and they said 1.5-2 weeks...so, middle or end of next week? It sucks...I cried to my husband the other day, it's like I'm 6 years old and someone gave me a puppy for my birthday, but the puppy hates me and I still have to take care of it. Every pregnancy symptom feels like insult to injury, if it's all going to end in bad news. I'm just trying to stay active enough to ward off major depression, and hydrated enough not to get sick. When it sucks too much I research one of our various options - termination, raising a child with Down syndrome, IVF or adoption if we decide we still want to be parents...I don't want to take the chance on this happening again, so natural conception doesn't really sound like a good idea.
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 can really relate to your puppy analogy. My very 1st pregnancy with a missed miscarriage, and I elected to wait it out rather than taking misoprostol or having a DNC. It took about 3 weeks for my body to get around to miscarrying on its own. It was such a limbo state. I called it pregnant-not-pregnant.. It felt so cruel, to have all of the symptoms and yet know the outcome wasn't going anywhere
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 another insult to all of this, is watching bills roll in when you still don't know if you get to keep it. I feel like they're should be a disclaimer if you don't get to keep the baby you shouldn't have to pay for all the tests and USs.
@jhysmath ha! That really would be nice. They've also said if we terminate and want to do IVF for another try, they'll make us wait 6-8 weeks before they write us a referral...which sounded, reasonable(ish), until they told me that the referral will put me on a "long" wait list. "Long" is all they'll say, no comment on how long it might take. I'm usually one for waiting my turn, but you would think after all of this that they might owe me just the tiniest favor?
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 didn’t think you were snippy at all! You’re going through a lot right now.
Kaiser sounds terrible! When my family lived in cali yeeeears ago Kaiser missed my grandpas cancer in his liver. He had ALL the classic symptoms and his liver was enlarged. He ended up dying before they could give him proper chemo. So ever since then my family has written them off. Unfortunately things like this are common at all major hospital systems. They want you in and out and in your case the least costly thing for them to do is have you terminate versus additional testing. Obviously from my professional experience I’ve lost a lot of faith in the hospital and diagnosis systems.
Also glad you’re getting additional support from your OBGYN! That’s a terrible geneticist who sounds like she/he has been desensitized to their work. Geneticists are supposed to give you all the info you need with no bias whatsoever. Termination is supposed to be an option, not a suggestion. Can’t even mention what other people have done since that can be looked at as persuasion.
I’m crossing my fingers your results turn out normal.
@bird_lady Everyone's experience is different - like @lilienne, I have Kaiser in California. However, my experience has been significantly difficult. I had one bad doctor experience, but other than that I have nothing but positive things to say about Kaiser. When my daughter died, between all of her stuff and my stuff (I nearly died), I literally had nearly a million dollars in medical bills. Of which I paid exactly $100. My out of pocket cost for all things pregnancy-related is $0.
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.
Yeah...depressingly enough, the woman we spoke with about raising a child with Down syndrome said as much as Kaiser sucks, she just went back to them after a year of having worse care elsewhere. As far as I can tell, Kaiser's technical medical care is decent. I've never actually had someone swap a sample, drop a surgical instrument, or mess up a biopsy. But bedside manner is consistently dehumanizing and presumptuous, and the whole system leave me feeling a little like a sheep at shearing time rather than a human in need of care.
At this point, I want to go elsewhere because I'm running out of Kaiser facilities where I can go without having to think of traumatic conversations and terrible experiences with irresponsible humans. Trust is important and perceived safety is important, and I'd rather have an opportunity to try for those things elsewhere. But I think it would be a mistake to assume this issue means that ever Kaiser everywhere sucks, or that anywhere else is automatically better....sad as it makes me to admit that.
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 yeah it’s so hard to tell where to go and which place will take care of you best. You have to physically go and see how they will care for you. And sometimes we don’t have time to go from doctor to doctor to find the right one. It’s hard. And it does depend on your area and which Kaiser you go to.
Right now too, as far as the bedside manner, I’m sure nurses and staff are exhausted with all the shortages and whatnot and can be overworked and short with people.
@kboydbowman If you had a good experience then of course you go where you feel most welcome and cared for! We just consider Kaiser not for our family cause experiences can be damaging. That was one out of a couple things that happened to our family with them, since at the time they were the only hospital system around. Even to this day hearing Kaiser gives me a bad taste in my mouth unfortunately. Like I said before, I’m very biased! sorry if I sounded negative about them! I’m glad they could help you financially too. All that debt would have been insane.
@kboydbowman sorry, I missed your message the first time around - what an awful thing to deal with! I'm sorry you had to go through that. I know everyone's experience is always slightly different, but it sounds pretty darned similar to me as far as the heartbreak of it.
@bird_lady I know you're right about the troubles facing everyone in the medical community right now, and I wish I could say I had it in me to be patient with them...if it was a matter of late appointments or missed messages I would like to think I could. I'm just feeling less okay with the runaround about statistics and pressure to terminate, and then the clerical error (probably genuinely made by someone working too hard and too late) was the icing on the cake.
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 had an undiagnosed incompetent cervix (they're rarely diagnosed ahead of time - you find out about it like I did, by having an extremely premature baby in the 2nd trimester), so it's not anything Kaiser could have done (this is why I get so much monitoring this time around). Now, the issues with the Evil Doctor who did the actual C-section, assaulted me, and did the C-section revision.....that's a whole other story. But there is a big flag on my chart that says he's not allowed anywhere near me and that's been honored.
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 yeah, and see I haven't had a history of one Evil Doctor...just a long string of well-meaning, think-they-know-best, lacking-in-empathy Kaiser employees who give me bad information because they don't want to get my hopes up when they think things look bad. While I understand the impulse, I would do so much better if I could get straight answers from people.
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@jhysmath I hate Kaiser with a passion. I hope it’s okay for me to say that. Otherwise, this can be deleted, but the hormones will either have me say this or stay awake for the next few hours.
[rant] They let my husband’s grandpa die, I have watched them be atrociously incompetent with my friend both throughout her high-risk pregnancy and before that with other serious health issues for her. I’ve watched them stumble and fumble trying to figure out friends’ kids’ health problems. If Kaiser was my only option, I’d take the money/a HSA instead or maybe have nothing. I have yet to see anything from them that brings me any confidence.
Thankfully I have Moda through OEBB, not that they’re great but they’re still more reliable. We had Providence when my husband worked for Oregon State Parks and Rec and that was the absolute awesomest insurance I’ve had. I miss Providence.
@pangolindrome you can hate Kaiser, I've just had the opposite experience. They've been absolutely wonderful.
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.
I just posted an update over in the NIPT discussion thread, to try not to derail this one any further. Still no easy/straightforward answers, but not the worst possible news either.
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!
Just received my NIPT, everything low risk and it's a GIRL!! Having just a touch of gender disappointment, only because I would really love to see my husband raise a little boy. But I know he's going to probably raise a little girl the same way, which might be even cuter! I haven't told him yet- I spied some cute onesies and booties today at the Carter store, going to pick them up and surprise him tomorrow
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.
@dvmmama I totally understand the gender disappointment, because these were exactly my thoughts with our first. I was hoping my husband would get a little boy. BUT There's something about those little girls and their daddies, though! She will have him wrapped and it's the sweetest relationship to watch. Mine goes fishing with him, goes hunting with him, plays ball, loves riding the tractor....it's such a sweet bond!
@dvmmomma I agree with @whitta1015. I thought I wanted a boy for my husband, and we thought we wanted a boy first, but when she popped out and we saw she was a girl, it didn't even matter. She's the first for a reason, and I'll tell you, it's a darn good one. She's incredible and we're both absolutely in love with her. I hope you're able to find that same comfort in your little girl.
Thank you @whitta1015 and @trapperkeeper87! He's already said he knows it's going to be a girl, and honestly I did too. My brother in law and his wife just celebrated their little girl's first birthday, and that big tough guy is wrapped around her little finger so I do expect the same!
At my 16 week sono the other day I found out it’s a girl! Although she did say not to buy any dresses yet and wait for the 20 week, I am feeling pretty sure it’s a girl! Although after reading @dsmith211 story I feel like I’ll never fully trust anyone until the baby is out!! 😂😂
@x_tina729 We purposely scheduled our scan at the late end at 22 weeks to hopefully give things more time for this reason. And I probably still won’t trust it. 😂
@dsmith211 I don’t blame you! My mom also just told me they told her my sister was a boy at her anatomy scan. I mean this was 15 years ago but still! Hearing these stories makes me weary I may still be buying all neutral stuff 😅
After finding out my daughter was a girl, I asked at all the following ultrasounds if she was still a girl. I had this fear that they would mess up somehow. The midwife doing the ultrasounds pry thought I was nuts😆
Re: I'm Just Here for the Sex!
@crabbycakes01 I'm glad you got the news your husband hoped for, but I'm amused at him being so scared of possibly having a girl!
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
I always had a feeling I'd have a girl first and during pregnancy I felt it too. Like I was certain. lol
I'm glad they're giving you both sides so that you can make an informed decision. That's so important. You normally only see the rainbows and butterflies side of down's syndrome children in the media and on social media. I'm so happy they're being real with you.
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
Please always get a second test if it is going to impact your decision with the baby. (As in termination or anything like that). Lab mistakes do happen (it’s a fast paced field and people make mistakes, and some companies care about profits over patients and sometimes that means speeding through testing and not checking patient samples correctly). Mix ups happen. It’s always best to check with a different lab than the one used for your initial testing (hospital should let you choose which lab you want to test your samples with). Make sure you are asking which lab is testing these samples. And the doctor should be able to request the lab to expedite your samples.
I do understand that many children with Down syndrome do extremely well. My primary concern is that there is no way to know the degree of difficulty this child might face until we are much too far along to have any options available to us at all. Given the particulars of my situation (my age, my husband's age, other factors I prefer not to disclose here) I hope you'll understand why I have reservations about moving forward with the (statistically questionable) assumption that this baby would be as lucky as your friend's son. If I could be guaranteed that outcome, this would be a very different situation.
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
With that comment from kaiser i understand why you didn't want the CVS done by them. I hope you get your other hospital soon and get far away from the doctors you've been seeing. My husband made sure to tell each person we saw after that ob that we are not to see him at all. Each appointment we went to he told them to make sure it was in my chart.
The one lucky thing for me is that the only reasonable human I've dealt with at Kaiser is my OBGYN, who is lovely. She's appalled at the number of missteps Kaiser has made, and she's the only one talking to us as if we have options that have not yet been predetermined. She has promised to hand pick the people who will help me with anything she can't do herself, which is a relief. I'm still hoping to get a referral elsewhere, but haven't heard anything back yet.
@bird_lady thanks for the reply, and sorry if I sounded snippy earlier. You're right, we're hearing a lot of opinions right now. The added info is helpful and necessary, but the opinions are a bit tougher to navigate.
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!
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.
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
I didn’t think you were snippy at all! You’re going through a lot right now.
First BFP on 1/4/22. Due date 9/13/22.
At this point, I want to go elsewhere because I'm running out of Kaiser facilities where I can go without having to think of traumatic conversations and terrible experiences with irresponsible humans. Trust is important and perceived safety is important, and I'd rather have an opportunity to try for those things elsewhere. But I think it would be a mistake to assume this issue means that ever Kaiser everywhere sucks, or that anywhere else is automatically better....sad as it makes me to admit that.
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
@bird_lady I know you're right about the troubles facing everyone in the medical community right now, and I wish I could say I had it in me to be patient with them...if it was a matter of late appointments or missed messages I would like to think I could. I'm just feeling less okay with the runaround about statistics and pressure to terminate, and then the clerical error (probably genuinely made by someone working too hard and too late) was the icing on the cake.
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.
Some complicated chromosomal stuff going on - our fingers are crossed, but this may not go according to plan!
I hate Kaiser with a passion. I hope it’s okay for me to say that. Otherwise, this can be deleted, but the hormones will either have me say this or stay awake for the next few hours.
[rant]
They let my husband’s grandpa die, I have watched them be atrociously incompetent with my friend both throughout her high-risk pregnancy and before that with other serious health issues for her. I’ve watched them stumble and fumble trying to figure out friends’ kids’ health problems.
If Kaiser was my only option, I’d take the money/a HSA instead or maybe have nothing.
I have yet to see anything from them that brings me any confidence.
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!
First BFP on 1/4/22. Due date 9/13/22.