1:13 chance for Down Syndrome. Advice Please

posted 2 years ago in Pregnancy
Post # 31
2219 posts
Buzzing bee
  • Wedding: July 2018

amanda1988 :  thanks!  I actually think I will be covered, my insurance just needs an official precertification letter /request from my doctor before they can even check my coverage for it.  But since we’re 35 (and 2/3, but who’s counting? lol) and 45, I’m pretty hopeful it’ll be covered per our old-person status.

I wonder if your doctor will order it since you’re not 35, right?  Hopefully so.  

OP sorry for the threadjack and good luck, sending you good vibes!!!

Post # 32
9588 posts
Buzzing Beekeeper
  • Wedding: July 2016

KittyYogi :  both my RE and OB were fully on board with ordering it.  They also both pushed for me to do screening pre-conception but i don’t see the point.. it wouldn’t change our TTC approach.  I was 28 when I asked OB, 29 when I asked RE.  Both are fine with it. ๐Ÿ™‚

I’d bet attitudes towards NIPT when not 35+ vary regionally.

Hopefulyl this isn’t threadjacking so much as telling OP her options with accurate $$ comparisons…


Post # 33
1415 posts
Bumble bee

I don’t have children, so I can’t really help much. But I just wanted to tell you that there is nothing for you to feel bad or guilty about. Raising a child is a huge reposibility. And raising and caring for a child with a disability is even more of a responsibility.

Only you and your husband know if you are able (emotionally, financially, physically) to care for a child with special needs. If you think you are incabable (which is totally fine and many people are), then I would say deciding not to bring a child you can’t care for into the world is a responsible decision. If you decide you will be able to care for this child, it might still be useful to get definitive testing so that you know what to expect and can be best prepared to care for the child when it comes.

No choice is the wrong choice as long as you do what is best for you.

Post # 34
4827 posts
Honey bee
  • Wedding: January 2017

anabee323 :  I agree it’s her decision that’s why I said that *personally* I would not take the risk. I’d be devastated beyond anything if I miscarried that late in the pregnancy due to an elective test. Just my opinion though.

Post # 35
9811 posts
Buzzing Beekeeper
  • Wedding: September 2013

Was it the NT scan that you had?  I agree that if you’re worried about the slight miscarriage risk with amnio then you should do the NIPT.  It’s still a screening (not a diagnosis) so even a positive with that will not 100% guarantee that your baby has DS but it’s more accurate so it might give you better odds or negate the previous one (which would be the hope by doing it).  Otherwise, I would do the amnio so you can find out for sure.  I don’t think I could live everyday not knowing for 5-6 more months I would want to find out ASAP.  But that’s really a personal decision.  I definitely think you should have NIPT testing done ASAP as it’s more accurate but not invasive

Post # 36
1216 posts
Bumble bee

I had my first baby at 37 and my second at 39. I had amnio with both pregnancies. I (personally) just wanted to know with certainty if the baby had Downs or some other chromosomal anomaly. I wan’t comfortable with “X” changes out of “Y”.

The amnio in both cases was pretty easy. I went home and laid low on the couch for the rest of the day, but the following day I went back to work. I had results very quickly which meant that I didn’t have to worry about it for the rest of my pregnancy. 

No one can make this decision for you, so you do what you feel is right for you and your dh. 

Post # 37
372 posts
Helper bee

I screened positive for Down’s Syndrome just 6 weeks ago. Chances were 1:3.

I had an amnio done. It’s the only diagnostic test which will tell you for sure if your baby has it. If i were in your shoes, i would not have a repeat screening test however accurate. 

The risks of amnio are overrated. The 1% risk of miscarriage often cited dates back to old research and older times. In my hospital, only 1 foetus was lost over the last 800 procedures.

Turns out my baby doesn’t have Down’s. He has a perfectly normal 46xy karyotype instead ๐Ÿ’™

Sometimes, numbers are just numbers. 

Good luck.

Post # 38
242 posts
Helper bee

Just wanted to say good luck to you. At my second trimester screening I had an abnormal test result The issue was not chromosomal, so an amnio was no help, but we were able to clear things up in an ultrasound. Ultimately my results were just a false positive, and it seems like this is more common than not. That being said, I would have done an amnio if it would have yielded more info, but I know that this is a deeply personal decision for everyone.

I do want to add for anyone consiering the NIPT: If your insurance doesn’t cover it for you, do research before going out of pocket to get the test done. My insurance said that they might not cover any conditions discovered as a result of the NIPT, so I chose not to go this route. Just a fun party trick that insurance companies can keep up their sleeves!


Post # 39
9588 posts
Buzzing Beekeeper
  • Wedding: July 2016

mrswhiskers :  whaat??? That’s insane, what assholes!  What’s their logic?  “pre-existing because we knew about it before you were born”?


Post # 41
1556 posts
Bumble bee

No advice, but I’m so sorry you’re going through this. Fingers crossed the harmony comes back quickly and all clear. 

You absolutely should not feel guilty. Pregnancy is a scary thing. Babies and children are difficult and terrifying all on their own, without any additional complications. 

Post # 42
293 posts
Helper bee

Do you know what component of your bloodwork raised your down syndrome risk?  The basic screening test is comprised of the NT scan which measures an accumulation of fluid at the back of the baby’s neck; babies with chromosal abnormalities tend to accumulate fluid there in the first trimester.  The bloodwork measures two different blood levels, beta-HcG and P-APPA.  When I had the genetic screening done, I also got an abrnomally high risk for Downs Syndrome for my age (29) though not quite as high as yours.  The NT scan and HCG levels were fine, but my P-APPA was super low which is what flagged the screen as positive.  I did a TON of research and found out that a low P-APPA level, aside from being associated with Down Syndrome, is associated with poor placenta development and can cause issues in the third trimester as the baby begins to grow more rapidly and needs more nutrients than the placenta can provide. Having a low P-APPA increases your risk of pre-eclampsia, gestational hypertension, IUGR.  In my case, that is exactly what happened- I developed gestational hypertension around 30 weeks, my daughter was born at 37 weeks, and she was SGA at a little over 5 pounds, but perfectly healthy and no Down Syndrome.

That was long but I’m just trying to point out that the basic genetic screening is somewhat nonspecific and can mean any number of things, or nothing at all.  Definitely go forth with further testing if you would like more information to make a decision.  I’m wishing you the best, I remember how agonizing it was after I got my results and wondering what was going to happen (we did not do amnio, etc).  

Post # 43
9213 posts
Buzzing Beekeeper

My NT scan results were negative, but I still had an NIPT test (Harmony) for added peace of mind. Thankfully my insurance still covered it even though I was under 30. If those results had come back high risk, I would’ve gone ahead and done an amnio/CVS. Knowledge is power for both Darling Husband and me, and we would’ve wanted to know. That said, this is such a personal thing, so do what’s best for you and your family and don’t let anyone make you feel guilty about it. FX for good news with your further testing, bee.

Post # 44
1718 posts
Bumble bee
  • Wedding: June 2019

I thought I’d reply to this post since I have personal experience with several layers of this story ๐Ÿ™‚ But my overall advice is: it takes a super duper strong woman to take a look at a Downs Syndrome possibility and go “oh that’s okay I will mold to this” – I don’t think any women out there are like that. Your reaction is 100% normal. 

However, I will say this. Your baby is, I’m sure, no matter if it has Downs or not, the most beautiful baby in the world. You look at yourself every day at the mirror and you probably think, “I have a baby inside of me oh my goodness.” You probably can’t wait for it to be born, and hold it and love it.

I promise you, that no matter if it has Downs or not, you will hold your baby and you will swear that nothing in the world will ever harm your child. Because that’s what mothers do. It may be hard to visualize now, but trust me, you will take your baby into your arms and, no matter what, love it ridiculously too much.

Because you’re a mom.

You knew the risks, getting pregnant when you’re older. My mom was 42 when she had my baby sister, and was told it would likely have Downs, and the doctor said she should get an abortion, and my mother absolutely refused. My sister came out perfectly fine. But I know my mom would have raised her regardless. I think you’ll be the same way. 

My mom’s friend has a baby with Downs, and oh my goodness, that child is a whip. She’s in high school, nearly top of her class, and does three sports. It took a lot of work, but that girl is destined for great things because she had ridiculously supportive parents.

I think you’ll be the same way if that is your destiny ๐Ÿ™‚ 

Sometimes, we’re just born for bigger or more complex things than we think we are. We get scared and think we can’t do it. But these tests results – it’s normal to be scared, for a bit – should not strike fear into your heart. It’s time to be strong, and keep plugging along for your baby, because a 1:13 chance is too small to even consider getting rid of it!

Post # 45
1825 posts
Buzzing bee
  • Wedding: July 2015

Cupcakenurse :  This is EXACTLY what happened to me.  Low Papp-a caused my positive screens for Down syndrome and trisomy 18.  My daughter was born full term SGA at 5 lbs 13 oz.  I ended up taking baby aspirin for the majority of my pregnancy based on the idea that it would improve bloodflow, don’t know if it made any difference one way or the other.  Was borderline for gestational hypertension/preeclampsia, but they never officially diagnosed me with either.  Definitely should have been diagnosed with at least gestational hypertension, in my opinion, though. 

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