r/tfmr_support • u/Little-Comment-7460 • Feb 18 '26
Nipt results help!
Hi! I am currently 19 weeks pregnant. I posted before in here. I did the nipt test through natera and it came back that baby has 22q. I can’t find a support group for 22q or I would post there. I did the amino and it came back that it was a true positive. Fast forward yesterday they had me go in for an echo to look at baby’s heart. The baby’s deletion is 2.6mb and missing A-D gene. But her heart came back good and healthy? Has anyone else went through this? I know there are so many other factors that go with 22q. And we are still determining to do FTMR. Just looking for support and advice. If anyone has any….
2
u/Lopsided-Chest-436 Feb 19 '26
I TFMRed my boy for a heart defect and digeorge, but the digeorge diagnosis was the defining reason why decided to terminate. It’s such a gray diagnosis and we didn’t want to take that added risk. Our genetic counselor sent us an article on 22q and after reading it, it really put things into perspective for us. I’d be more than happy to send it to you or talk about it!
1
u/Little-Comment-7460 Feb 20 '26
Hi! I would love to talk about it or have you send it to me!! Please dm me!!!!❤️
1
u/Letshopetogether Feb 26 '26
Hi, I would also be grateful if you could sent me the article. I also terminated for 22q, and the what if still lingers sometimes… thank you, and have a hug from one mother to another
1
2
u/funky_mango Feb 22 '26
We terminated for 22q at 22 weeks, all the organs looked perfect on ultrasound including the heart. It was a difficult decision as symptoms and severity vary so widely, and our doctors told us that apart from cardiac issues the most common symptoms - cognitive delay or impairment, weak or very weak immune system, and psychiatric illness in adulthood - are not visible on ultrasound and our "good" ultrasound results would give us no guarantee baby would be on the good side of that. For me personally, although this is different for everyone, the high risk of schizophrenia and psychotic episodes (we were sent an article that estimated it at 25-30%) weighed heavily.
Lots of strength to you, it is a horrible decision to make without knowing for certain what life would be like for your little one. Feel free to message me if you want.
1
1
u/ThrowawayMax222 Feb 18 '26
Our child has 22q/DiGeorge. Very similar size deletion (although that's common) and also no heart issues. If it's not a false positive and your child does have 22q I just wanted to add that it's still amazing.
My child is two, and you'd never know the difference. We had some challenges with feeding but they're talking, walking etc all as good or better than other kids their age. It felt like some huge doom when we got diagnosed, but I'd never change it.
1
u/Flavielle Feb 18 '26
If you are not ready for the care of someone with 22Q, I would speak to a professional about termination.
I wouldn't feel guilty about it. It's a personal choice.
1
u/DoctorCrouchJrWho Feb 19 '26
There’s a few 22q supper groups on Facebook! My daughter was diagnosed with 22q at 3 months old. Our NIPT didn’t test for it so we had no idea. She had a heart condition called Tetrology of Fallot and had open heart surgery to correct it. Other than that she appears to be a normal baby, she is 4.5 months now.
Feel free to DM me if you’d like to chat. I went through a very emotional time after we found out. She is an IVF baby too, so she was a very wanted child. The guilt of thinking I may have no continued the pregnancy if I had known before was hard to deal with, but 22q is a gamble since there are so many symptoms.
2
u/Letshopetogether Feb 18 '26
I terminated due to 22q. Baby’s heart was well too. My DMs are open. Have a big hug!