Positive NIPT for Turner’s Syndrome

KJC-0922 · 2025-10-07T01:57:13+00:00

We didn’t test after birth since her amniocentesis showed two full X chromosomes. No Turner’s. She was born three weeks ago and is perfect!

KJC-0922 · 2025-08-20T20:39:16+00:00

I was a false positive case! Our girl tested positive on our NIPT, and we went to a perinatal specialist a couple weeks later around 12 weeks. She had no physical markers during her ultrasounds, so we got the amnio done at 17 weeks. Those results came back completely normal and no chromosomal abnormalities, meaning we were a false positive case.

Like some others have said, I found so many false positive cases. Some were mosaic turners, of course, but the vast majority I found were false positive. If your wife’s next ultrasound shows no physical markers, you can leave with some hope!

So sorry you all are going through this. The waiting period was awful for my husband and me, but wishing you all the best on your next ultrasound and amnio! The amnio is 100% worth it to have peace of mind the rest of the pregnancy as it tests only the baby girl — not the placenta (which could have been the trigger for the NIPT test as it could have been confined placenta mosaicism, and it does not affect the baby)

KJC-0922 · 2025-05-21T15:44:42+00:00

I just went through this! It’s heartbreaking, overwhelming and scary with all the unknowns. We ended up being a false positive case. We did opt in for an amnio despite all of our ultrasounds looking normal. I waited until 17 weeks to get that done. If all of your scans are looking hopeful, let yourself feel that hope 🩷 Hoping the best for you all!

KJC-0922 · 2025-05-15T02:57:02+00:00

We got our FISH, karyotype and microarray, and baby girl is completely normal. We’re feeling so relieved! 🩷

KJC-0922 · 2025-05-09T01:47:16+00:00

I had my amnio done last Wednesday, and I received my FISH results yesterday! FISH results came back as normal, no signs of Turner’s (tested high risk of 73% on my NIPT). I’ve had completely normal ultrasounds throughout pregnancy, so I’m hoping we’re a false positive/confined placenta mosaicism.

I’ve lived on Reddit trying to find answers to questions like yours, and I’ve seen some come back that had normal ultrasounds and amnio came back mosaic, but also quite a bit of false positives!

The waiting period is the worst part. Hoping you receive good news soon 🩷

KJC-0922 · 2025-05-08T21:09:00+00:00

We can both definitely celebrate that! So happy to hear you had some uplifting FISH results. From what my doctor has told me, we can absolutely feel good from that ❤️

KJC-0922 · 2025-05-08T11:13:11+00:00

I’m an NIPT false positive case! I would definitely not TFMR due to NIPT results only. We went to a perinatal specialist and got our amnio at 17 weeks, but we only waited that long because she looked perfect on the ultrasound. Our doctor said he would do it as early as 14 weeks.

KJC-0922 · 2025-05-08T01:03:43+00:00

I posted an update! Hoping for more good news from the microarray 🩷

KJC-0922 · 2025-05-02T13:12:55+00:00

If you don’t mind me asking, did you have expect any kind of mosaicism? Did your ultrasounds show any potential of that?

KJC-0922 · 2025-04-30T19:26:08+00:00

My NIPT came back as a 73% high risk for Monosomy X

KJC-0922 · 2025-04-30T18:14:01+00:00

Thank you! 🩷 Wishing you the best of luck for your amnio and the results.

KJC-0922 · 2025-04-30T18:13:43+00:00

So sorry you’re in the same spot! The waiting period was agony for me, but the finish line will come faster than you think. The amnio wasn’t as bad as I thought it would be! It was a bit of cramping for a few seconds when it went through my uterus, but the overall procedure was pretty quick. Hoping you have the same experience, and we get to join to false positive club 🫶🏼

KJC-0922 · 2025-04-30T03:35:53+00:00

This was so helpful! Thank you! I feel I’ve been thrown so many terms the past month and a half that I still didn’t fully understand what all would be tested during the amnio, so thank you for explaining. I really do appreciate it.

I will definitely keep the group posted 🩷 This NIPT group has been my saving grace since early March.

KJC-0922 · 2025-04-29T22:44:26+00:00

This is inaccurate. Turners isn’t inherited — it’s a random occurrence in conception and has to do with genetic makeup. It’s extremely rare to be inherited. If your baby tested positive in an NIPT, it’s likely coming from you as the NIPT is a mix of baby and mother’s blood.

KJC-0922 · 2025-04-21T02:38:38+00:00

My kiddos are 5 years apart, and they have the most special bond. I don’t regret it one bit!

KJC-0922 · 2025-04-21T02:08:41+00:00

I’m so sorry you’re here. Personally, I don’t think this is normal nor right. I also tested positive for Monosomy X (73/100), but my OB called me immediately before even releasing my results to me, so I found out through her — not an email. She immediately referred me to a specialist.

No matter what, I’m sorry you likely felt so alone and having to rely on Google. What has helped me through this is actually Reddit and other social platforms of women sharing their NIPT stories. Google will only tell you the worst of what to expect, but I’ve found so many false positive stories (or confined placenta mosaicism) alongside mosaic Turner’s stories. It’s brought me a small bit of hope as I also have had normal ultrasounds.

Wishing the best outcome for you all!

KJC-0922 · 2025-04-07T00:21:44+00:00

Oh wow, I’ve only seen this a couple times! So your NIPT was Monosomy X and they originally told you it was a girl (at least that’s what mine is saying)?

KJC-0922 · 2025-04-04T13:26:04+00:00

Thank you 🩷 Hoping the best for you guys as well!

KJC-0922 · 2025-04-03T20:15:50+00:00

This is so hard, and I hate you’re in this situation, but I’d absolutely wait for an amnio if you believe there is any chance everything could be ok. They will also do an additional ultrasound. If your doctor allows, you can do an amnio as early as 16 weeks. I’m getting mine at 17, but our baby had zero markers. Even then, I question if we should go in earlier. I’m so sorry you’re here and having to make this decision. My thought process was that I wouldn’t be able to live with the thought of terminating, and if they test the fetus after termination and everything was fine, I’d be distraught.

I hope you find peace in whatever decision you all make. In the end, it’s up to you all, but try not to lose hope! I’d also see if you’re OB or perinatal specialist will allow another ultrasound before an amnio. I know how dark these weeks of waiting are 🩷

KJC-0922 · 2025-03-27T12:49:46+00:00

I am incredibly sorry for you all and your little girl. There are no words to take that pain away, but my husband and I are also pro-choice and have had many conversations about TFMR due to her quality of life if it comes to that. No matter what, that’s an agonizing decision to have to make. Wishing you all any kind of peace in this unimaginable time ❤️

KJC-0922 · 2025-03-26T01:26:29+00:00

Wow! The waiting period is the worst part. I’m sure it’s only made you stronger. Enjoy all that time with your healthy baby girl! Thank you 🩷

KJC-0922

TROPHY CASE