Results back and all is good. 1 in 1000 for everything they tested and a little girl. Now I just have to decide if I should do an amnio for extra reassurance...
@rcultrona an amnio is a pretty invasive procedure and carries a (small) risk of causing miscarriage, it's rarely done unless another test comes back abnormal.
Me: 35 H: 35 Married: 4/5/13 "You know that place between sleep and awake, that place where you can still remember dreaming? That's where I will always love you. That's where I'll be waiting." ~Peter Pan
*TW*
BFP #1: 11/12/12 EDD 7/25/13 Baby boy: 7/27/13 BFP #2: 10/29/17 MMC dx @ 9 weeks BFP #3: 2/2/18 MC 2/7/18 BFP #4: 3/2/18 MC 3/9/18 RPL testing and hysteroscopy: all normal BFP #5: 4/1/18 MMC dx @ 14 weeks ----> genetically normal girl Hysteroscopy to remove scar tissue 9/28 BFP #6 11/5/18 EDD 7/20/19 Rainbow baby girl born 7/23/19 BFP #7 12/8/2021 EDD 8/22/2022
@Katzalia@hbmama21@clbness@k_m10 thank you all so much! My nerves have slightly calmed since yesterday, but I need SO to get himself into the office and get tested ASAP. I feel like he's taking his sweet time! I need to light a fire under his butt, it seems. I'm hoping tomorrow he's tested and we get results back by next Friday.
My draw was Thursday, moved to clinical review when I checked online this morning. Call from drs office at lunchtime. Low risk for all 4 chromosomal abnormalities out tested for. Having a boy. Dh is excited. Dd not so much!
I'm sorry you have that worry @scaredunprepared but there's a good chance he's not a carrier, and even if he is there's still only a 1 in 4 chance your baby would be affected. Which probably sounds high, but it means there's still a 75% chance your baby will be just fine.
Me: 35 H: 35 Married: 4/5/13 "You know that place between sleep and awake, that place where you can still remember dreaming? That's where I will always love you. That's where I'll be waiting." ~Peter Pan
*TW*
BFP #1: 11/12/12 EDD 7/25/13 Baby boy: 7/27/13 BFP #2: 10/29/17 MMC dx @ 9 weeks BFP #3: 2/2/18 MC 2/7/18 BFP #4: 3/2/18 MC 3/9/18 RPL testing and hysteroscopy: all normal BFP #5: 4/1/18 MMC dx @ 14 weeks ----> genetically normal girl Hysteroscopy to remove scar tissue 9/28 BFP #6 11/5/18 EDD 7/20/19 Rainbow baby girl born 7/23/19 BFP #7 12/8/2021 EDD 8/22/2022
@coco2787 thank you. I know the odds are good, but still doesn't do much for my worrying brain. And SO isn't getting tested until next Monday or Tuesday! I think he's checking in on my patience and stress management.
My doctor tried to reassure me further that the 1:4 ratio isn't that simple, and it depends if I'm a "full" carrier or not, and depends what strain of CF it is, etc. So the odds baby will be fine is even higher than 75%, they just simplify it for non-sciency folk. Still stressful not knowing, though!
@katy0990, I do not. I just have a healthy amount of general anxiety that always makes me prepare for the other shoe. The rational part of my brain recognizes that my results were amazing and I should be nothing but pleased but the irrational crazy part is always there with a negative thought...
@rcultrona I can completely understand your anxiety. I would definitely encourage you to talk to your doctor and research the procedure beforehand. When I was pregnant with DS, there were some soft markers on his ultrasounds and I ended up with polyhydramnios, so there was a lot of concern about what could be causing these issues. When an amnio was put on the table, my doctor advised against it due to the risks. Good luck!
I received my results back from the Natera website today - low risk for everything! This is my first AMA pregnancy, so the first time I gave much thought to it. This was definitely a huge relief. I'm also a team green failure - boy #4 for us!
My screen came back low risk but turns out I'm an SMA carrier. Anxiously waiting on SO's result. It would be devastating to have to terminate at 18 weeks. I really hope my little guy is fine.
Genetic test came back and all results are low risk! 1 in 10,000 for Down Syndrome / trisomies. Don't know the sex yet tho.... Waiting til anatomy scan for it
@shygirl88 I just looked up SMA and it says that there is a 75% chance that baby won't have the disease. Is there a way, in utero, for the doctors to find out? I'm so sorry for this news and I'm sure waiting is horrible.
@texas_t no! Last week he was supposed to buy with closing and starting our move we both let it slip our minds. Then of course now, he's away until tonight, so he's going in tomorrow whether he likes it or not! Then 1-2 weeks waiting for results. Waiting waiting waiting is my life at the moment. Poo.
shygirl88 not to freak you out but my husband and I dd the carrier screening and he is a carrier for SMA as well. The way it works is that everyone should have one marker on each of the two strands of that particular pair of chromosomes ( so 2 markers total). If you are a carrier you have one strand without a marker. If 2 parents each have one markerless strand and that i what the baby gets the result is someone with zero markers and thus SMA. NOW, here is the kicker. All the carrier screening tests for is the number of markers and it is possible to have 2 markers on one strand and none on the other so for example, I was not a carrier because I have 2 markers BUT both markers could be on the same strand whcih would technically make me a carrier because I have one strand with no markers. So if my husband and I both "donate" our markerless strands to the baby then she would have SMA even though on paper I am not a carrier. It is a 1:3100 chance but depending on your level or neuroticism is something to keep in mind. Your odds of getting hit by a bud on your way to the Dr are probably higher but if you are they type of person who is looking for 100% certainty you might be interested in further testing.
@texas_t Yes if he comes back as a carrier I will do an amniocentesis. I may do it regardless depending on the "residual risk" that the genetic counselor was trying to explain. I really don't WANT to do that though. Its 25% chance the baby will have it, 25% he will get none of it and 50% chance he will be a carrier also. So FX, I'm hoping to get SO's results by next week.
@rcultrona well that is scary! And that is also very confusing. Still deciding if i will go forward with the amnio if my partner is negative. I will for sure if he is positive. Such a long wait for results for such a serious thing.
@rcultrona well that is scary! And that is also very confusing. Still deciding if i will go forward with the amnio if my partner is negative. I will for sure if he is positive. Such a long wait for results for such a serious thing.
I know! It's the worst. I'm definitely risk adverse and because I am 36 I went in to my first appointment ready to sign up for a CVS and an Amnio and anything else they wanted to do to me but after really looking at the numbers, for example we have a 1:3100 chance for SMA which is a .0003% chance of it happening vs a 99.9996% of it not happening I am trying to be more "glass half full". That was the best advise our genetic councilor gave us was to turn the negative chance around to see the positive side.
Dr just messaged and said my 2nd trimester screen results were negative! Tbh, not 100% sure what they were testing for, was this one spina bifida and trisomys? But negative is good, I guess.
Keeping my fingers crossed for everyone waiting for their results. We got our Maternity 21+ results back last week. It just says “negative” for the chromosome issues (trisomies and some other ones), which is a huge relief. And it’s a boy!
Re: Genetic Testing Results Thread
Married: 4/5/13
"You know that place between sleep and awake,
that place where you can still remember dreaming?
That's where I will always love you.
That's where I'll be waiting."
~Peter Pan
*TW*
BFP #2: 10/29/17 MMC dx @ 9 weeks
BFP #3: 2/2/18 MC 2/7/18
BFP #4: 3/2/18 MC 3/9/18
RPL testing and hysteroscopy: all normal
BFP #5: 4/1/18 MMC dx @ 14 weeks ----> genetically normal girl
Hysteroscopy to remove scar tissue 9/28
BFP #6 11/5/18 EDD 7/20/19
BFP #7 12/8/2021 EDD 8/22/2022
Married: 4/5/13
"You know that place between sleep and awake,
that place where you can still remember dreaming?
That's where I will always love you.
That's where I'll be waiting."
~Peter Pan
*TW*
BFP #2: 10/29/17 MMC dx @ 9 weeks
BFP #3: 2/2/18 MC 2/7/18
BFP #4: 3/2/18 MC 3/9/18
RPL testing and hysteroscopy: all normal
BFP #5: 4/1/18 MMC dx @ 14 weeks ----> genetically normal girl
Hysteroscopy to remove scar tissue 9/28
BFP #6 11/5/18 EDD 7/20/19
BFP #7 12/8/2021 EDD 8/22/2022
My doctor tried to reassure me further that the 1:4 ratio isn't that simple, and it depends if I'm a "full" carrier or not, and depends what strain of CF it is, etc. So the odds baby will be fine is even higher than 75%, they just simplify it for non-sciency folk. Still stressful not knowing, though!
*Rainbow 8/2015*
*Expected Rainbows 12/2018*
*Loss of Twin 5/2018*
*Rainbow 8/2015*
*Expected Rainbows 12/2018*
*Loss of Twin 5/2018*
The way it works is that everyone should have one marker on each of the two strands of that particular pair of chromosomes ( so 2 markers total). If you are a carrier you have one strand without a marker. If 2 parents each have one markerless strand and that i what the baby gets the result is someone with zero markers and thus SMA. NOW, here is the kicker. All the carrier screening tests for is the number of markers and it is possible to have 2 markers on one strand and none on the other so for example, I was not a carrier because I have 2 markers BUT both markers could be on the same strand whcih would technically make me a carrier because I have one strand with no markers. So if my husband and I both "donate" our markerless strands to the baby then she would have SMA even though on paper I am not a carrier. It is a 1:3100 chance but depending on your level or neuroticism is something to keep in mind. Your odds of getting hit by a bud on your way to the Dr are probably higher but if you are they type of person who is looking for 100% certainty you might be interested in further testing.
*Rainbow 8/2015*
*Expected Rainbows 12/2018*
*Loss of Twin 5/2018*
@shygirl88 I know nothing about SMA, but FX SOs test comes back as negative for carrier!
DS2 due 12/12/18
*Rainbow 8/2015*
*Expected Rainbows 12/2018*
*Loss of Twin 5/2018*
We got our Maternity 21+ results back last week. It just says “negative” for the chromosome issues (trisomies and some other ones), which is a huge relief. And it’s a boy!