Positive for trisomy 21 results on NIPT

[Anonymous]

I know this is a personal decision of what to do but I'm looking for others who have gone through this. I'm very upset right now and know DH will want to terminate if we know for sure. I'm 39 yo and know the chances of downs is 1:90 at 40, so I shouldn't be so shocked. Meeting with MFM tomorrow morning (have to go solo b/c DH is out of town) and NT scan tomorrow afternoon @ OB. I know I'll be finding out a whole lot more but wondering if anyone had advice. Or went through this themselves. TIA

[Anonymous]

I'm so sorry. I haven't been in your situation, but I would say that an amnio will give you a more definitive answer, but no one can force you terminate (not even dh- though whether a marriage can survive that I really don't know). Personally, I would want to have that information.

If you can and are comfortable, please take someone else you trust with you to your appointments tomorrow. Better not to be alone.

[Anonymous]

I'm sorry. I will say be grateful you are finding out about an (potential) issue in advance. We did not have that luxury and it was devestating (not Downs but similar in that it results in lifetime impairment).

[Anonymous]

Can your DH come back from out of town or at least be on speaker phone during the meeting? Or bring a friend? It might be hard for you to remember all your questions and the conversation if it's just you.

[Anonymous]

I am so sorry, OP. My wife found out in early 2015 that our baby also tested positive for T21, but she was nearly 17 weeks along at that point.

Here was our sequence of events...We have one living child who was around 20 months at the time we found out. Both children were IVF pregnancies, and very wanted. DW was 32 at the time, and our chances of T21 were 1/414. There was only one thing that was slightly alarming at her NT scan around 12 weeks, and after thinking on it for a few weeks, she insisted on a free cell DNA test. We even agreed to pay OOP because since she wasn't advanced maternal age, insurance would not cover it. We found out when she was around 16 weeks that the test was positive for T21. We had talked about what we would do if this happened, but you never truly know until it happens. She had an amnio the same day, and the FSH results were in two days later, also confirming T21. We spent the weekend researching all of our options - termination, adoption, or keeping the baby.

In the end, and for a myriad of reasons that were very personal to us, DW decided to terminate. We were able to work with a therapist immediately afterwards (her name escapes me - those days were a huge, dark fog) but eventually had to stop after a few visits because our insurance didn't cover it. We found a support group for women who TFMR, attended once. During and immediately following the termination, our genetic counselor was also a valuable resource for me in terms of offering her support. There was a social worker at the hospital (WHC) who was incredibly kind to us, and even reached out months later to see how we were doing. The doctor who performed the procedure was also very caring.

This was, by far, the darkest period of our life. I am still in counseling, as I'm fairly certain I set aside my emotions to be there for DW, and then felt the effects of the loss many months later. We have come out on the other side, and following two miscarriages after this loss, DW is now almost 12 weeks. We have also cleared the free cell DNA test. Which is not to say that we aren't still scared - we are. But we cannot live in fear every day.

My advice is this: communicate with each other, do the research, talk to people who are informed, and then make the decision that is best for your family. No one gets to say what the decision is except for you and your husband. And know that whatever you decide, there is support out there.

[Anonymous]

Agree to write questions down in advance so you remember them. Good luck.

[Anonymous]

A close friend went through this. They decided to continue with the pregnancy, the child (now preschooler) is doing well and they're a very happy family. She got really involved with the Down Syndrome Diagnosis Network; great resource. The lettercase materials are also very informative.

[Anonymous]

Thank you for sharing your experience. I will try to bring a friend.

[Anonymous]

Are those your odds from MaterniT21 or a similar test? If so, they're just elevated odds, not a diagnosis. Definitely follow up with amnio or CVS though, as those would give you a diagnosis. NT scan is important too. Good luck. I hope everything works out.

[Anonymous]

I'm so sorry OP. Was this the cell-free DNA test? Rather than the NT, can the MFM do a CVS tomorrow? And glad you are going to try to bring a friend.

[Anonymous]

Anonymous wrote:Are those your odds from MaterniT21 or a similar test? If so, they're just elevated odds, not a diagnosis. Definitely follow up with amnio or CVS though, as those would give you a diagnosis. NT scan is important too. Good luck. I hope everything works out.

Unfortunately these tests are typically between 97-99% accurate.

[Anonymous]

A NIPT is a screening tool, not a diagnostic tool...get an amnio or CVS for an actual answer. Sorry for the additional stress this is causing you, OP.

http://www.downsyndromeprenataltesting.com/your-maternit21-test-is-never-positive/

[Anonymous]

Anonymous wrote:

Anonymous wrote:Are those your odds from MaterniT21 or a similar test? If so, they're just elevated odds, not a diagnosis. Definitely follow up with amnio or CVS though, as those would give you a diagnosis. NT scan is important too. Good luck. I hope everything works out.

Unfortunately these tests are typically between 97-99% accurate.

Technically the actual likelihood that a positive is a true positive depends on the age and the condition for which a positive is returned and is usually lower than 97-99%. This website shows the actual incidence of disease when a positive is received: https://www.perinatalquality.org/vendors/nsgc/nipt/

Unfortunately at a higher maternal age a positive test for T21 has a high predictive value and likelihood of a true positive is 96%.

[Anonymous]

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.

[Anonymous]

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.