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July 2016 Moms
applebottomgenes
member
Questionable Quad Results (Down Syndrome) after positive Panorama results
applebottomgenes
member
I guess this is a 'what would you do' type post.
At 10W I had a Panorama Test (I am over 35) to test for chromosomal abnormalities. The test came back low risk. They didn't give me the numbers, but I was deemed low risk for everything. At my nuchal screening, the baby was too big to measure the fluid 'officially' but the doctor and the technician both said 'unofficially' did not look troubling. I had a more detailed anatomy ultrasound last week and everything was still looking good. The only thing they were unable to see was lips. Which I don't think is indicator of anything having to do with Downs, Trisomy, etc.
At that appointment, the Dr. suggested a Quad screening since we couldn't get official nuchal results. I did it. Today, they called to tell me the Quad came back with a high risk - 1 in 132 for Down Syndrome. Sounds weird to say that 1% is high risk, but that is what she said. She said normally the next step would be Panorama, since the Quad is an older test and Panorama is more sensitive. Instead, I am getting set up with a genetic counselor to talk about my options....or option of getting an amniocentesis.
We will get more (and I will update) information from the counselor. But I'm obviously sitting here thinking what this all means. And if I should amnio. I'm not going down the path of 'well you're keeping him anyway, so why does it matter' - and I don't mean to offend anyone but that is not what this is about. It's about being prepared and having a plan in place with a little one already at home.
Has anyone had a similar experience? An amnio? Advice??
ETA: Because I can't spell.
At 10W I had a Panorama Test (I am over 35) to test for chromosomal abnormalities. The test came back low risk. They didn't give me the numbers, but I was deemed low risk for everything. At my nuchal screening, the baby was too big to measure the fluid 'officially' but the doctor and the technician both said 'unofficially' did not look troubling. I had a more detailed anatomy ultrasound last week and everything was still looking good. The only thing they were unable to see was lips. Which I don't think is indicator of anything having to do with Downs, Trisomy, etc.
At that appointment, the Dr. suggested a Quad screening since we couldn't get official nuchal results. I did it. Today, they called to tell me the Quad came back with a high risk - 1 in 132 for Down Syndrome. Sounds weird to say that 1% is high risk, but that is what she said. She said normally the next step would be Panorama, since the Quad is an older test and Panorama is more sensitive. Instead, I am getting set up with a genetic counselor to talk about my options....or option of getting an amniocentesis.
We will get more (and I will update) information from the counselor. But I'm obviously sitting here thinking what this all means. And if I should amnio. I'm not going down the path of 'well you're keeping him anyway, so why does it matter' - and I don't mean to offend anyone but that is not what this is about. It's about being prepared and having a plan in place with a little one already at home.
Has anyone had a similar experience? An amnio? Advice??
ETA: Because I can't spell.
Re: Questionable Quad Results (Down Syndrome) after positive Panorama results
Sorry you are in this position it definitely can be anxiety provoking. I would link you to the amnio thread but this stupid app won't let me. Maybe another lady could be awesome and do that as there are a few there who have had it done recently and they could probably offer some insight and support as well
I am just generally someone who worries about everything. The other day I was walking past an Amtrak ad, and thought "Oh maybe we'll take a train trip before the baby comes" with our 16 month old. Then I immediately pictured everything that could happen to her on the train, including a RIDICULOUS scenario of her running away from my husband, and being sucked out of the train because the train doors were malfunctioning. I am MENTAL. And we used to make fun of how crazy my Mom was with us. It's karma.
So after that weird confession, thank you for the reassurance. I guess like everything with pregnancy, I wait to talk to the experts and go from there. I know the stats are more in our favor, and the Panorama did come back low risk, it's just a weird call to get...and only leaves me with more questions/worries.
https://forums.thebump.com/discussion/12657483/quad-screen-results-1-2-risk-for-down-syndrome-update-1-29
July BMB May Signature Challenge
The OP even stated she didn't want to go down the "well if you are going to keep it, it shouldn't matter road" on here.
And I really hate when people say they won't abort so they don't test. This OP stated she wanted to be prepared and your comment to me comes off as random and slightly judgemental towards people who test or chose to terminate a pregnancy.
For future help as well instead of just saying "I'm no help at all" and then offering nothing positive maybe wish the poster well...
DD #2: EDD July 2016
How do you feel about the amnio? Do you think it would make you feel better to go through with it and know one way or the other? Definitely check out this thread someone posted about getting an amnio; there seemed to be a lot of helpful info: https://forums.thebump.com/discussion/comment/88456368#Comment_88456368
FX crossed for you and hugs.
DD #2: EDD July 2016
old you are, but Mayo Clinic says at 40, the odds of having a baby with Down syndrome are 1 in 100, so if you are in your later 30s or 40s, the odds from your quad screen really don't mean much. Don't know if that helps, but just something to think about. Wishing you the best!
I highly recommend (in addition to seeing the genetic counselor and making the decisions for your baby's health) to make sure you have at least 1 or 2 support people to call on when you're feeling these complicated emotions. If your insurance will cover it, seeing a therapist once or twice to help you process your situation could be great too.
Also, if you're iffy about the amnio, there are non-invasive tests that can help you decide if you want an amnio eventually. The only way to diagnose is an amnio, but these non-invasive tests can help you decide if your quad results were actually indicative of something serious.
Feel free to PM me if you have questions, it's a tough place to be!
I am mixed about amnio, but only because of risks (low risks, but risks) associated with them. I am in my late 30's, so before the magic of medicine developed Panoramas/Materna's, I would most likely have decided to do one, because they were the best option for AMA's. I do want to know. That's just me.
This was a great thread - thank you for sending. I'll be checking back there to see how her results went!
DD #2: EDD July 2016
Also, this is an aside from your situation/statements about knowing and being prepared, OP, but man do I loathe when people say "I would never abort anyway" - honestly, you don't know that. Until you're in others' shoes who have had to make the tough choice there, you really don't know what you'd do. Abortion is legal and is a valid choice people make for whatever reason. Sorry...end of rant.
Best of luck to you @applebottomgenes and keep us updated.
sorry you are dealing with this!
I'm probably long overdue for a therapist visit! Thank you for sharing your story - I always thought that should it be thrown my way I would handle it better. But I am my usual, complete spazz, self. At least I have stayed away from Google. So far.
I have had the Panorama (which is another version of Materni21) so I BELIEVE (not sure) that the next course of action would be the amnio. But we'll talk to the counselor and see what they say. Luckily, thanks to my good ol' AMA I am already with a high risk practice and can see a counselor next Tuesday. Will be a long weekend, but could be much worse.
This is from the Mayo website:
"When a Down syndrome second trimester risk cutoff of 1/270 is used for follow-up, the combination of maternal age, AFP, estriol, hCG, and inhibin A has an overall detection rate of approximately 77% to 81% with a false-positive rate of 6% to 7%. In practice, both the detection rate and false-positive rate increase with age. The detection rate ranges from 66% (early teens) to 99% (late 40s), with false-positive rates of between 3% and 62%, respectively."
In other words quad screens are much more likely to produce a false positive the older you get.
I'm glad you'll get in quickly! I'm sure you're already doing this, but be sure to have questions ready for the counselor. Unless you get someone away from the norm, I found that they like to give you minimal information unless you ask the questions. Also, if you have any specific questions about your quad results, the counselor is not likely going to be able to answer them....we had to bring the MFM doctor in to discuss those.
I am crossing my fingers for you, I hope you get answers quickly!
That being said, hopefully everything will be just fine and they can give you the option of another scan when they can get a better look at the face to see if they can find the lips.
I do agree with @BostonBaby1 though. If the genetic counselor were to recommend it, I'd have it done. (As I obviously did, as noted in the amniocentesis thread!
In any case, don't stress! Good luck. You'll be in my thoughts Tuesday.
I received my preliminary results a week later and thankfully, my fcDNA test was a false positive, we ended up getting a phone call on Christmas Eve with the results, which was the best present ever. I spent a god 2-3 weeks crying, laying on the couch, googling (which actually helped ease my fears after hours of finding false positives), working and nothing else.
Sorry my story is lengthy, I'm hoping it may help you some. I would talk to your doctor about an amnio, there are risks, but I know the results take longer than a CVS. But, they are both diagnostic tests vs screenings.
Oh also, I had to have 2 level 2 scans. One at a local hospital and another at the same MFM facility that did my CVS because they couldn't see everything they wanted to. So maybe another scan, at a different place may show drs what they want/expect to see.
I'm sorry you're going through this and I'm hoping you and your baby are healthy. Your risk is a lot *less* than mine was, so hopefully you will be fine.
Married: May 16th 2015
- Something happening with my placenta
- ANOTHER chromosomal disorder that a Panorama wouldn't test for
The placenta would just need to be monitored (fine, hopefully!) but the other disorders would require an amnio to diagnose.
I moved my 20W appt up a week (it was at 21W), because she said these other disorders can have very apparent physical markers. But really, I just want to talk to my Dr. to pick her brain. I know she'll say the only definitive test is the amnio, but I had never met this counselor before, she was like 10 years younger than me, and spent a lot of the time giving me a gene lesson (which was cool, but I was also like 'so ABOUT ME....'). Personally, I just want to speak to someone I know before making the call.
What is weird is that the two friends I've told, and my brother-in-law who is a doctor, have all said 'I hope you don't have to do the amnio...' which is weird....it definitely has a HUGE stigma attached to it. And makes me think...
As for the quoted piece above, I know it's hard to ignore things well-meaning family/friends say, but I wouldn't let that get to you. Your BIL being a doctor (and you don't say what kind of doctor, but I'm guessing not an OB...) doesn't mean he would say "Yeah, can't wait for you to do the amnio!"
I think it's fair that your friends/family would hope you didn't have to do it and instead wish you got better answers before that point. Along with the small risk, there is a bit of recovery time with the amnio. I think they're just wishing you the best.
Really, don't let their reactions make you think twice if the amnio is your chosen route. People assign stigmas to lots of things but unless they've been in your shoes it really doesn't matter. Even if they HAVE been in your shoes, actually, it only matters what you decide.
As far as the amnio, it's completely up to you. If you want answers quicker and more definitive than you'd get with ultrasounds, it's a great option. People can be very judgmental about amnios and it's unfortunate.