(Closed) 1:13 chance for Down Syndrome. Advice Please

posted 4 years ago in Pregnancy
Post # 16
Member
2009 posts
Buzzing bee

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trekstar :  don’t feel guilty, as you know what your limits are when it comes to taking care of another human being. Take the amneosentesis and make your decision from there.  Just please do not let this false sense of guilt cause you to make any decision that you may end up regretting 5 years down the line. I can only think it’d be 110% natural to be feeling the way you do in this situation!

 

Aside from that, I will genuinely pray that your results for DS come back negative. I hope that you get great news that you will be having a healthy baby! Also, a 1:13 chance leaves a ton of room for your test to come back showing no complications, so instead of freaking out about that tiny fraction of a chance that something may be wrong, try to think positive (I know, way easier said than done). 

Post # 17
Member
3722 posts
Sugar bee
  • Wedding: March 2017

If it was me, I’d go with the amio so I would know what I was facing. 

Post # 18
Member
3930 posts
Honey bee
  • Wedding: July 2018

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trekstar :  I would 100% do the amnio!!!  The risk of miscarriage has been overstated and is very low, like 1 in 400.  You absolutely want to make any further decisions based on the most complete knowledge available to you.

Try not to stress until all the facts are in, although I know that’s easier said than done.  And DO NOT feel guilty about being scared of having a special needs baby, that is completely understandable and normal.  Big hugs to you xoxooxox

Edit: I agree with others, look into the non-invasive prenatal testing like MaterniT.  It’s a simple blood draw (your blood, but there are small amounts of fetal cells in your blood that they test) with no risk to you or the baby.  The only thing is that it is EXPENSIVE if not covered by your insurance – $1100 was what I was quoted.  But I would think that if you’re high risk for a genetic condition because of your screening results, insurance should cover it.  Call your insurance company and inquire!  FYI my insurance required that my doctor submit a “precertification” letter for the test, basically a request that it be done, to the insurance company before they can check my coverage for it.

Post # 19
Member
8499 posts
Bumble Beekeeper
  • Wedding: August 2012

Was this the standard blood test or the free-cell DNA test like Harmony, MaterniT21, Progenity etc?

I would absolutely do one of those before an amnio. They have zero risk to the baby and are extremely accurate.

Post # 20
Member
1140 posts
Bumble bee
  • Wedding: October 2016

So, I can’t tell you what to do, but I was faced with a significant chance of having an abnormal NT scan (I have a chromosomal abnormality).  I probably spent 3 hours with an amazing genetic counselor mapping out probabilities (as best we could) and pathways through prenatal assessment.  I actually had the NIPT drawn before my NT scan as we knew we were potentially facing an issue.  NT scan came back low risk, my OB doesn’t send the bloodwork if you are already doing the NIPT so I didn’t get the free beta-HCG or PAPP-A results (which is what I’m guessing was abnormal for you).  NIPT came back low risk, so my genetic counselor advised an early anatomy scan (18 weeks) so that if it was abnormal we would have time for an amniocentesis.  If the NT scan had been off or the NIPT had been high risk, I had planned to decline CVS in favor of amniocentesis for two reasons.  First, the risk of miscarriage is higher with CVS than it is with amniocentesis.  Second, it is possible to have what is called placental mosaicism (when the placenta has some abnormal cells and some normal cells) and I didn’t want to accept the risk of CVS only to get an inconclusive result due to mosaicism.  Mosaicism is not a risk with amniocentesis unless the fetus itself has mosaicism (which is possible).  If I’d had a high risk result, I would have undergone amniocentesis right at 16 weeks to facilitate earlier answers.  

I don’t know if that’s helpful at all, but I spent a LOT of time prior to pregnancy and during my early pregnancy figuring out what I would do with an abnormal result.

Post # 21
Member
8007 posts
Bumble Beekeeper

I was 36 when I had my third child. Test came back with a 1 in 5 chance that he would have Trisomy 18, which is usually fatal in the first year of life. Ultrasound provided no indication that he was a Trisomy 18 baby. Skipped the amnio as it wouldn’t have changed the outcome for me and with my history of preterm labor I didn’t want to cause the loss of a likely healthy baby. He’s now an amazing teen. 

These tests are often wrong and, as you said, only indicated that there was a small possibility you were carrying a child with DS. Take some deep breaths and pursue additional testing. Hugs.

Post # 22
Member
1445 posts
Bumble bee
  • Wedding: August 2017

I would do the amnio. And then once you have the results from that you can actually sit down and figure out what you want to do. Many people terminate because of a DS diagnosis. But also know that having a DS baby isn’t the end of the world. In fact, many people say that DS children bring them more joy than regular children. But it’s all up to you and what you and your husband believe should be your path. What ever choice you make will be the right one. Sending you lots of love!

Post # 23
Member
81 posts
Worker bee

I am not pregnant and have no children, but I work with those with disabilities. I am very pro-choice, however, after doing an amnio, please do research on down syndrome before making any decisions. There are many many very high functioning adults with down syndrome. I’m not discrediting the challenges you will face, I’m just saying that there are also many joys that someone with DS will bring you. That’s all I have – sorry that it was slightly off your original topic!

Post # 24
Member
1700 posts
Bumble bee
  • Wedding: July 2015

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trekstar :  I screened positive for both down syndrome and trisomy 18 with my daughter.  I was 31 years old, and my down syndrome risk was 1/4, trisomy 18 was 1/80.  My husband and I both strongly agreed that we would not terminate a pregnancy for down syndrome.  We were unsure of what to do if the baby had trisomy 18.  We saw a genetic counselor.  I opted for the NIPT screening, which is still a screening but more accurate.  It involved a small blood sample from me, and was not a risk to our baby.  We got the results sooner than expected, and she was negative for all genetic disorders on that test.  We also learned she was a girl.  If the NIPT had come positive for trisomy 18, we may have considered invasive testing.  My daughter was born perfectly healthy.  I believe the bloodwork results were bad because there was something not right about my placenta.  The reasons I think this are: my Papp-a numbers were very low, my daughter was born pretty small, I had issues with my blood pressure during pregnancy, and I had a retained placenta after delivery.

Anyway, follow your heart, but I can not speak highly enough of the NIPT test.  My insurance covered it because I screened positive on the first test.  It was so easy, informative, and safe.

Post # 25
Member
853 posts
Busy bee

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trekstar :  Don’t feel guilty for feeling the way you do. It’s normal to feel the way you are describing, and okay to be leaning more one way. Unless people are in this situation, they don’t realize the reality of it, and cannot say what they would do. You would probably be surprised at how many people feel the way you do when they are in the situation you are in.

If it were me, I would definitely look into NIPT or getting an amniocentesis. I would want to know for sure so that I would have all the information and be able to do more research before potentially making a decision. 

Also, if you want to put it in different terms, a 1 in 13 chance of having Down Syndrome means that there is a ~8% chance of having Down Syndrome. That means a 92% chance of not having Down Syndrome. In other words, if the risk of Down Syndrome is 1/13, 8 babies out of 100 will have Down Syndrome and 92 babies out of 100 will not have Down Syndrome.

Post # 26
Member
5884 posts
Bee Keeper
  • Wedding: January 2017

A close friend of mine was told in ALL 3 OF HER PREGNANCIES that her baby had downs. Guess what? All.are perfectly healthy. Please don’t let this.take another wink of sleep from you. This is your special time for baby and mama, congrats and happy & healthy remaining months ❤️

Personally I wouldn’t do amino; 1in 400 chance of miscarriage is still 1 in 400. We never think we’ll be that 1 but it’s a risk I would not take.

Post # 27
Member
131 posts
Blushing bee

No personal experience, but DHs mom went through this with him. Everything was perfect and he was healthy, but a test came back that he could have down syndrome (not entirely sure what test). She had the amnio done and it was perfect and he had no abnormalities. Given that was many years ago.. but I’d definitely get it done just to be sure. That will give you time to prepare if it does come back that there’s a complication. 

Post # 28
Member
853 posts
Busy bee

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lifeisbeeutiful :  Every screening has a margin for error. It seems like your friend’s pregnancies somehow consistently fell within that margin. However, if the screenings were completely useless, medical providers wouldn’t be using them. So while I hope OP isn’t to worried, to completely dismiss these medical screenings out of hand doesn’t make sense either.

It’s probably best for OP to weigh the 1/13 chance of Down Syndrome of a screening test with the 1/400 chance of miscarriage if she does an amniocentesis, and decide from there.

Post # 29
Member
940 posts
Busy bee
  • Wedding: March 2015

I think my perspective on this changed as I got older. In my twenties, I would have been more inclined to terminate a pregnancy with confirmed Down Syndrome, so I would have wanted to do tests like amniocentesis to be certain.

But it turns out I’ll be closer to your age when I finally start TTC in a few years. So I know time will be limited and a pregnancy will be far from certain—not that it’s ever certain.

And so I have to wonder: would I take the 1 in 400 risk of a miscarriage with amniocentesis, if that one chance turned out to be the only one I got? Would I rather have a child with Down Syndrome or no child at all? There are no easy answers here, but I personally feel like I’d have by far the most regret if I took the (very small) chance with amniocentesis, it led to a miscarriage, and I wasn’t able to get pregnant again.

Post # 30
Member
8674 posts
Bumble Beekeeper
  • Wedding: July 2016

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KittyYogi :  Ugh that sucks you weren’t covered.  Your post prompted me to call materniT21 to ask them to give me a quote for the full genome test (so the basic trisomy stuff plus other genetic disorders plus sex).  They checked my insurance and said that so long as it was ordered by a doctor (but I didn’t have to be high risk) it’d be covered.  She said it’d be $840 and since my copay is 15% I’d pay around $130 out of pocket.

Just for anyone who is considering it and curious.

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