@catem07, my doctor recommended the CF carrier testing last pregnancy and with this one SMA carrier testing seemed to be the standard. There was an expanded carrier testing too with many more diseases, but I declined that one, I am not any of the ethnicities listed at highest risk for many of the mutations and it would have been like 700$.
******TW******Siggy warning BFP1 04/24/2015 EDD Dec 2015 MMC 10W5d; BFP 2 09/25/2015 EDD June 2016 MMC 9wks; BFP 3 03/22/2016 EDD Dec 6th 2016
@queenklau I had CF testing with my last pregnancy and SMA wasn't standard then, but my doctor did talk about it this time. When I declined it she didn't suggest I should really do it...
I have a friend who both she and her husband are carriers. They have had three children (two before they knew they were carriers) and none of them have SMA, thankfully.
DD #1: April 2017 DD #2: May 2020 Baby #3: EDD May 2023; MC October 2022
@catem07, it’s rare that both are are carriers. So lucky that none of their kids had it! I wouldn’t worry about it. All of these genetic tests are so expensive if they aren’t covered/you aren’t eligible.
yeah, 3 years ago they didn’t offer because there wasn’t treatment. A treatment was approved very recently (~1 year or so ago).
******TW******Siggy warning BFP1 04/24/2015 EDD Dec 2015 MMC 10W5d; BFP 2 09/25/2015 EDD June 2016 MMC 9wks; BFP 3 03/22/2016 EDD Dec 6th 2016
@catem07 I'm not doing the SMA testing as we don't have any family history of it on either side, but having two students (they're cousins) with it in the area it does worry me a little. MH and I discussed how broken hearted we would be if our child had SMA because we see those kids and know how great and smart they are, but their life expectancy is so short and as a school we always have to worry about sickness and keeping them home because any illness can be such a catastrophic event for them.
@catem07 I did genetic screening after I had DS and DD because I kept having losses. Turns out, I'm a carrier (totally unrelated to my losses). I didn't think I had a family history either, but obviously it came from somewhere. We already had two kids, so MH was tested just to be safe. Luckily he's not a carrier, but I will have the kids tested when they get older so they know if they're carriers before they start a family.
It's unlikely that both you and YH are carriers. But if it gives you peace of mind, it's worth the money. If you're not worried about it, that's okay too.
@queenklau my dad is the biostatistician on that treatment for SMA. It’s a very very expensive treatment right now because it’s so new, but very promising for the future.
I was not offered SMA testing specifically, unless it is already covered in the NIPT bloodwork package that my doctors shipped off. I know that earlier in the game when going through fertility treatment my husband and I were both offered an extensive carrier screening panel and we declined. The odds of one of us having something is very low and then the odds of both partners having it to be able to pass it on is even lower. It's definitely personal choice. I would have more seriously considered it if my insurance covered carrier testing, but it does not.
@queenklau my dad is the biostatistician on that treatment for SMA. It’s a very very expensive treatment right now because it’s so new, but very promising for the future.
Yeah, I am also familiar with these exorbitantly expensive miraculous therapies. The clinical study data is amazing though.
******TW******Siggy warning BFP1 04/24/2015 EDD Dec 2015 MMC 10W5d; BFP 2 09/25/2015 EDD June 2016 MMC 9wks; BFP 3 03/22/2016 EDD Dec 6th 2016
we had the NT/NIPT test today -- both babies look good! (nasal bone and neck widths in the normal range). They took TWELVE vials of blood though and I almost passed out. Rescued by a lollipop.
My doctor's office only does the Myriad test, not the Panorama, and the tech didn't seem very sure how accurate the Myriad was for twins, so I don't know if we're going to be able to get the genders with more precision than "no boys" or "at least one boy". If we have to wait until the anatomy scan it's not the end of the world, of course.
I also learned that they do a fetal echocardiogram at 22 weeks for all IVF patients, which I hadn't heard of before. I hadn't realized that IVF babies were at a higher risk for heart problems.
So 11 days after NIPT blood draw I did not see results in my portal, so I phoned the doctor (even though I have an appointment this week anyway) and they had the results! So it doesn't hurt to call and check if you haven't heard back. I didn't ask the sex yet (hubby really wants to know), and all is good, none of the old lady trisomy issues and the correct number of sex gene, although they said I am an SMA carrier so they want to test my husband, who of course does not have insurance... so we'll see what that cost. Hopefully not too much since it's one specific test and not a full panel.
I just got a notification that my insurance covers the NIPT for singleton pregnancies but not twins! that seems so backwards. and of course we already had the test done.
I'm a cystic fibrosis carrier. We had a genetic test done about three years ago that determined at the time that my husband wasn't one. I got a call from my doctor today that in the intervening time they have a more sensitive CF test that catches more mutations, and my doctor wants to know if we want my husband to have it done (reduces the likelihood of him being a carrier from about 1 in 200 to 1 in 1000). I'm on the fence about doing it -- what do you all think, would you do it?
So my fertility clinic called today and the result of my NIPT is: insufficient fetal cfDNA! I get to go get a re-draw and wait another 2 weeks! Super! 🤦🏻♀️
@brettanomyces ugh, so annoying! Last time around I had to do mine twice, too and it sure was suspenseful. Hope it goes smoothly this time for you and that the weeks fly by!
@allie456 Isn't it ridiculous that insurance doesn't cover twin pregnancies for NIPT? I paid $249 out of pocket. Also, I'm a carrier for SMA and we did have MH tested. We wanted to make sure our kids didn't have it. It was stressful while we waited for results, but I'm so glad we did it (test was negative and the kids are fine). We will still probably have them tested when they're older to make sure they're not carriers, in case they need to know for their own family planning.
@brettanomyces how annoying! and then you have to wait another week+ too.
@ruby696 that's a good point. I think we'll probably do it. if the worst were to happen and he was a carrier and one of the babies were affected we would want to be prepared.
I just got the call from my Dr that the Panorama came back inconclusive. "Suspected finding outside the scope of this test, including but not limited to fetal mosaicism, genetic abnormality in the fetus' DNA, or genetic abnormality in the mother's DNA." I have an appointment with a fetal diagnostic specialist tomorrow at 1pm and I'm now very scared.
@louessbee How incredibly stressful. I'm glad they're able to get you in so quickly, but I'm sorry you're dealing with this. FX so hard that everything is fine.
@louessbee I don't even fully understand what that means, but it sounds like they have you lined up with a specialist to figure it all out right away. Start writing down your questions so you don't forget tomorrow. Hang in there. Good luck.
@doctorcrime just some info about my experience with carrier screening and how it wasn't as straight forward as I'd hoped.
I did carrier screening before even getting pregnant because I'm an Ashkenazi Jew, which puts me at higher risk for like everything. I used JScreen, which is through Emory University and they use myriad testing for over 200 conditions. They only charge like $150 regardless of insurance and I think that's for all ethnic backgrounds. Mine identified that I'm a carrier for two diseases - Gaucher's and SCAD-1 (Short-chain acyl-CoA dehydrogenasedeficiency).
Here's the complicated thing - some conditions are easier to correctly identify if you are from a high risk ethnic group due to certain markers they are looking for. In my case, Gaucher's is very easy to accurately identify a carrier for me, but for MH, who is not Jewish, the accuracy is only like 60% using standard testing. So getting him checked the way I did wouldn't really improve our understanding of the risk. Apparently there is more thorough gene sequencing to get a much more accurate result for him, but so far no genetic counselor I've spoken to does that. Because of this, we haven't even gotten him tested. If other diseases had come up positive for me we would probably have gotten him tested too for those at least. If we were both carriers for Tay-sachs, for example, we would probably then do invasive testing on the fetus.
For a lot of the diseases the accuracy of detection is high no matter what. But there are others where it's about the same as chance. They give you all that info though when you get screened.
Thank you all for the positive vibes! Still not really any answers. NT was good (1.3 and 1.5mm), they drew blood to get my karyotype and to check DH and I both as carriers, and we scheduled amnios. Was good to see the two of them wiggling around in there.
The genetic counselor said she doesn't usually see this specific result from Panorama, but we're the second case this week. Weird. It seems like they weren't able to separate my DNA from babies' DNA at all, they didn't even report a fetal fraction.
@louessbee I did Panorama for my twins and I got a fetal fraction number. So hopefully they just messed up your test (although that would suck) and your babies are absolutely fine. Keep us updated - I'll be thinking about you.
@ruby696 That's my hope! The counselor said she'd usually recommend testing again with a different company, but nobody else really does twins. And apparently if I have any genetic abnormalities it could also have thrown it, hence getting the karyotype. We'll see soon, I guess? And thank you for keeping me in your thoughts, it's appreciated.
Did anyone have the panorama test done and ask to not know the gender? When the genetics person went over our results she only mentioned one of the sex linked disorders one that is paired with females only. She told me at the beginning everything came back with the lowest results but then specifically mentioned turner's syndrome. I really don't want to know if it's a boy or girl, but just curious if she messed up by telling me this.
@jhysmath my nurse only specifically mentioned a condition if it was found to be present or I was found to be a carrier. Otherwise she said results were normal without going through line by line and condition by condition.
Did anyone have the panorama test done and ask to not know the gender? When the genetics person went over our results she only mentioned one of the sex linked disorders one that is paired with females only. She told me at the beginning everything came back with the lowest results but then specifically mentioned turner's syndrome. I really don't want to know if it's a boy or girl, but just curious if she messed up by telling me this.
I did Harmony without selecting the fetal sex option, there was also an option to test for Turners or not. So my dr told me if the Turners came back positive then we’d know the sex was female but if it was negative we wouldn’t know the sex.
Re: Genetic Screenings and Tests - Questions and Experiences
BFP1 04/24/2015 EDD Dec 2015 MMC 10W5d;
BFP 2 09/25/2015 EDD June 2016 MMC 9wks;
BFP 3 03/22/2016 EDD Dec 6th 2016
I have a friend who both she and her husband are carriers. They have had three children (two before they knew they were carriers) and none of them have SMA, thankfully.
DD #2: May 2020
Baby #3: EDD May 2023; MC October 2022
yeah, 3 years ago they didn’t offer because there wasn’t treatment. A treatment was approved very recently (~1 year or so ago).
BFP1 04/24/2015 EDD Dec 2015 MMC 10W5d;
BFP 2 09/25/2015 EDD June 2016 MMC 9wks;
BFP 3 03/22/2016 EDD Dec 6th 2016
It's unlikely that both you and YH are carriers. But if it gives you peace of mind, it's worth the money. If you're not worried about it, that's okay too.
BFP1 04/24/2015 EDD Dec 2015 MMC 10W5d;
BFP 2 09/25/2015 EDD June 2016 MMC 9wks;
BFP 3 03/22/2016 EDD Dec 6th 2016
My doctor's office only does the Myriad test, not the Panorama, and the tech didn't seem very sure how accurate the Myriad was for twins, so I don't know if we're going to be able to get the genders with more precision than "no boys" or "at least one boy". If we have to wait until the anatomy scan it's not the end of the world, of course.
I also learned that they do a fetal echocardiogram at 22 weeks for all IVF patients, which I hadn't heard of before. I hadn't realized that IVF babies were at a higher risk for heart problems.
- BFP: 3/10/16 — Baby Girl born 11/20/16
TTC#2 April 2019I'm a cystic fibrosis carrier. We had a genetic test done about three years ago that determined at the time that my husband wasn't one. I got a call from my doctor today that in the intervening time they have a more sensitive CF test that catches more mutations, and my doctor wants to know if we want my husband to have it done (reduces the likelihood of him being a carrier from about 1 in 200 to 1 in 1000). I'm on the fence about doing it -- what do you all think, would you do it?
@ruby696 that's a good point. I think we'll probably do it. if the worst were to happen and he was a carrier and one of the babies were affected we would want to be prepared.
FTM
BFP: 9/5/19 ~ EDD 5/15/20
Married Sept. 2013
DS1: Nov 11, 2016
MMC: 11/16/18 (9w6d)
CP: 2/3/19 (5w3d)
BFP! 8/24/19
DS2: May 10, 2020
I did carrier screening before even getting pregnant because I'm an Ashkenazi Jew, which puts me at higher risk for like everything. I used JScreen, which is through Emory University and they use myriad testing for over 200 conditions. They only charge like $150 regardless of insurance and I think that's for all ethnic backgrounds. Mine identified that I'm a carrier for two diseases - Gaucher's and SCAD-1 (Short-chain acyl-CoA dehydrogenase deficiency).
Here's the complicated thing - some conditions are easier to correctly identify if you are from a high risk ethnic group due to certain markers they are looking for. In my case, Gaucher's is very easy to accurately identify a carrier for me, but for MH, who is not Jewish, the accuracy is only like 60% using standard testing. So getting him checked the way I did wouldn't really improve our understanding of the risk. Apparently there is more thorough gene sequencing to get a much more accurate result for him, but so far no genetic counselor I've spoken to does that. Because of this, we haven't even gotten him tested. If other diseases had come up positive for me we would probably have gotten him tested too for those at least. If we were both carriers for Tay-sachs, for example, we would probably then do invasive testing on the fetus.
For a lot of the diseases the accuracy of detection is high no matter what. But there are others where it's about the same as chance. They give you all that info though when you get screened.
@brettanomyces Sorry you have to re-do the bloodwork.
- BFP: 3/10/16 — Baby Girl born 11/20/16
TTC#2 April 2019The genetic counselor said she doesn't usually see this specific result from Panorama, but we're the second case this week. Weird. It seems like they weren't able to separate my DNA from babies' DNA at all, they didn't even report a fetal fraction.