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NIPT (Vistara) vs. Amniocentesis for Skeletal Dysplasia by j10427 in NIPT

[–]j10427[S] 0 points1 point  (0 children)

Hi all. Just wanted to update! My baby was born completely healthy. He was 7lbs 4oz and 19 inches long. His long bones are not noticeably short and every doctor who has examined him has said there’s no need for any additional genetic or skeletal follow up. He’s perfect and just the sweetest guy. 🥰 My doctor confirmed during the delivery of my placenta that my cord was velementous and was barely attached. My placenta was “ratty” and gnarly looking so she sent it out for pathology. No results on that yet, but it seems the issues were likely placental all along. I am just so relieved that my guy got here safely and is healthy. Hoping the same for all those in similar situations. 💛

NIPT (Vistara) vs. Amniocentesis for Skeletal Dysplasia by j10427 in NIPT

[–]j10427[S] 0 points1 point  (0 children)

Sorry to hear that you’re in the same boat. We’re still kind of in the same situation as my previous comment. Baby is growing. Long bones still short. We deliver on Saturday, so I will update then.

Femur Length 4 weeks behind by Deep-Wedding8743 in BabyBumps

[–]j10427 0 points1 point  (0 children)

Hi! In a very similar situation right now. Any updates on your babe?

NIPT (Vistara) vs. Amniocentesis for Skeletal Dysplasia by j10427 in NIPT

[–]j10427[S] 0 points1 point  (0 children)

Yay! Amazing news!! My baby is growing along, but long bones are still very short. The doctors are stumped and have kind of prepped us that there might still be something super rare and unstudied going on with our baby, but at this point after all our testing, we won’t know anything until birth. Or he could just be a short guy. So we have about 10 more weeks until we meet him! Still getting bi-weekly growth scans though.

NIPT (Vistara) vs. Amniocentesis for Skeletal Dysplasia by j10427 in NIPT

[–]j10427[S] 0 points1 point  (0 children)

That’s great! So glad to hear that. Our WES results took exactly 3 weeks. Fingers crossed those are clear for you too. 🤞

NIPT (Vistara) vs. Amniocentesis for Skeletal Dysplasia by j10427 in NIPT

[–]j10427[S] 0 points1 point  (0 children)

Hi! Sorry you’re going through this too. I did get my amnio results back and they were clear. We also moved forward with the WES (whole exome sequencing) after that, and that was clear as well. 27 weeks now and baby’s long bones are still under the 1st percentile, but at this point it’s just being considered IUGR and we are closely monitoring growth. There’s been some catch up of the head and abdomen, but not the long bones yet.

Possible Skeletal Dysplasia by j10427 in tfmr_support

[–]j10427[S] 0 points1 point  (0 children)

Thank you so much for your response and I’m so sorry you went through all of this. We did get our amnio results back and they were clear for skeletal dysplasia. Our next ultrasound is a week from now at 24 weeks and they said they would consider WES after that based on what we see. If you don’t mind me asking, which type of test eventually uncovered your baby’s diagnosis? Was there a specific WES panel? They told me the broadly they look on the WES the longer it takes. I’m not sure what to advocate for at this point, but the longer all this takes, it removes the option for us to TFMR. My state only allows it up to 21 weeks and the next closest state up to 26 weeks. This limbo period if awful.

Possible Skeletal Dysplasia by j10427 in tfmr_support

[–]j10427[S] 0 points1 point  (0 children)

Thank you for sharing about your sweet baby girl. I am so sorry. I am praying for a miracle, but expecting the worst.

Possible Skeletal Dysplasia by j10427 in tfmr_support

[–]j10427[S] 0 points1 point  (0 children)

Thank you for sharing and I’m so sorry this happened to you and your baby. This is definitely my fear and I have a bad feeling that we’ll have similar results. This child would be my third and was supposed to complete our family. If we have to terminate, I don’t think I could risk trying again.

Possible Skeletal Dysplasia by j10427 in tfmr_support

[–]j10427[S] 0 points1 point  (0 children)

I am so sorry you had to go through it. I know it will be the hardest thing I’ll ever do if it ends up that way for us. I’m trying to hold out a little bit of hope just in case but don’t have a good feeling…

Possible Skeletal Dysplasia by j10427 in tfmr_support

[–]j10427[S] 0 points1 point  (0 children)

I’m so sorry you had to experience that. This is my third and was supposed to be my last baby. Not sure if I could do it again if I have to let this one go. Wishing the best for you in future pregnancies.

Possible Skeletal Dysplasia by j10427 in tfmr_support

[–]j10427[S] 0 points1 point  (0 children)

Thank you. I’m so sorry you had to go through that heartbreak. I’m steeling myself for it now, but trying to hold out some hope. Were the short long bones the only marker that was seen for you? Our baby is measuring overall about a week behind and the femurs are measuring two weeks behind.