Positive for trisomy 21 results on NIPT

[Anonymous]

Anonymous wrote:

Anonymous wrote:Old thread but I am going through this right now. At 12 weeks I received a positive for T21 on a Maternit21 test with 12% fetal fraction. Given my age (36) the PPV is 89% (so only 11% of the time the positive is false). I did a CVS yesterday and before the test they did a sonogram and did not see a thickened nuchal fold, and they did see a nasal bone, but I know a good percentage of downs cases go undetected by ultrasound.

I’m very confused about making a decision based on the early FISH results vs the full Karyotype vs waiting for an amino in case there is mosaicism in the placenta. And to add another wrench in things, at 5.5 weeks my doctor found another yolk sac that disappeared around 7 weeks that could be confounding things - but the doctor believes it was an identical twin so the DNA of both should be the same right?

Would love to hear from anyone who has been through something similar! I feel so lucky to already have 3 healthy kids and we saw the fourth as being a cherry on top, but now I can’t shake the feeling that we were being too greedy. The thought of having to consider whether to choose to terminate (vs miscarriage - I’ve had 3) is truly awful.

I’d strongly recommend reporting your post, asking Jeff to delete it and starting your own thread. Everyone will reply to Op. you deserv your own post.

You deserve your own thread! Sorry.

[Anonymous]

I'm so sorry you are facing this decision PP. I'm also sorry to say if I was in your exact same position I would terminate. And I don't say that lightly.

For me the reasons would be- I truly don't think we could afford proper care/therapies for a special needs 4th child. We would never be able to retire. We are already clearly headed to having to be the main caregivers for 2 or 3 of our parents which is already taking a fairly big toll on our marriage. I think emotionally, financially, physical space in our home we would just be spread way too thin and DH and I would crumble.

[Anonymous]

As the parent of a child with a genetic disorder I would advise you to terminate. This is such a terrible, all-consuming road.

[Anonymous]

I’m the DW of the PP from 13:12. I’m so sorry for what you’re going through OP. It’s truly the more difficult decision I’ve ever had to make and easily the darkest time of my life. I hope you did get a false positive.

[Anonymous]

Anonymous wrote:I’m the DW of the PP from 13:12. I’m so sorry for what you’re going through OP. It’s truly the more difficult decision I’ve ever had to make and easily the darkest time of my life. I hope you did get a false positive.

Sorry, I meant PP not OP.

[Anonymous]

Goodness please do not terminate. Special needs children are very much wanted, and adoption is a wonderful thing.

[Anonymous]

There is nothing to be sorry about. I have a beautiful daughter with Down syndrome. You will love your child beyond expectations.

And yes I am pro-choice. This has nothing to do with religion or politics. I grew up with a Down syndrome cousin and she is lovely. Her parents would not trade her for the world.

OP, if you do not want to terminate but do want to raise your child with Down syndrome there are always about 200 waiting families at the Down Syndrome Adoption Network.

https://www.ndsan.org/

My best wishes to you

[Anonymous]

Anonymous wrote:As the parent of a child with a genetic disorder I would advise you to terminate. This is such a terrible, all-consuming road.

I agree. Also a parent of a child with a rare genetic disorder. And my kid is doing pretty well and I still say this.

I won’t have another baby but if I did, and if I could go back in time, I would get exsome/array testing for genetic disorders, in addition to everything else.

I’ve been through some tough stuff in my life, but facing the possibility of my child being severely disabled and never being able to have even a somewhat average life is the darkest thing imaginable.

[Anonymous]

We had two children die from genetic disorders in our family. Awful. They suffered greatly then died. This won’t happen with T21 but their parents and subs suffering lasted very long and completely changed their lives and not for the better. If it were me I would be very sad but terminate. And giving up for adoption after a full pregnancy is very very hard.

[Anonymous]

PP with positive test here. Thanks for all of the insight on termination but we’re not ready to go there until we know for sure that our baby has Downs.

Has anyone else received a positive NIPT for T21? Did you do follow up testing? What were the results and what course of action did you decide on? Would love to hear how others have approached this.

[Anonymous]

I was 39 years when pregnant and routine test showed that our baby had a very high potential for Down Syndrome. I was devasted. But then, we did blood test ( I can't remember what it was called specifically) and the test showed that our baby had no Down Syndrome ( this blood test is over 98% accurate). So please do this blood test.

[Anonymous]

Np. I'm bumping this older thread for more responses, please. I'd be very grateful to anyone willing to share their experience as I can't discuss my situation in real life with anyone. Thank you.

[Anonymous]

Nobody can tell you what your kid will be like. Some kids with Down Syndrome are very happy and sunny; some are extremely difficult--I know one with autism as well who has a ton of behavioral challenges. Some have serious heart issues or get cancer, while others are quite physically healthy. And nobody can tell you how you and your partner will feel about parenting a kid with T21, or about terminating a pregnancy. You could regret either one. Contacting your local chapter of the Arc could help you find people in your area who have kids with T21--and adults too, because childhood is in some ways the easier part.

[Anonymous]

Anonymous wrote:Nobody can tell you what your kid will be like. Some kids with Down Syndrome are very happy and sunny; some are extremely difficult--I know one with autism as well who has a ton of behavioral challenges. Some have serious heart issues or get cancer, while others are quite physically healthy. And nobody can tell you how you and your partner will feel about parenting a kid with T21, or about terminating a pregnancy. You could regret either one. Contacting your local chapter of the Arc could help you find people in your area who have kids with T21--and adults too, because childhood is in some ways the easier part.

This is unfortunately very accurate. There's a variety within Down's Syndrome, both in cognition and in things like heart defects.

[Anonymous]

Anonymous wrote:Np. I'm bumping this older thread for more responses, please. I'd be very grateful to anyone willing to share their experience as I can't discuss my situation in real life with anyone. Thank you.

As the parent of a child with a genetic disorder I would tell you to terminate. I don't wish this life on anyone. And I'm probably better off than so many others. It will be hard to terminate but then you will move on eventually and be able to forget. With a child with SN that never happens; there is no recovery--you are always dealing and planning. Plus you are leaving your NT kids with a care burden.