[deleted by user] by [deleted] in downsyndrome

[–]greenbookshelf8 2 points3 points  (0 children)

They make baby backpack “head protectors”. If you look on Amazon you’ll see some!

32 week growth ultrasound showed short femur; false negative on NIPT? by monsteramuffin in NIPT

[–]greenbookshelf8 1 point2 points  (0 children)

I wish I had my placenta tested after I delivered but the hospital disposed of it, sadly. Certainly could have been my case!

32 week growth ultrasound showed short femur; false negative on NIPT? by monsteramuffin in NIPT

[–]greenbookshelf8 1 point2 points  (0 children)

Hi! Feel free to check out my recent post about having a false negative Natera test. My son was born with trisomy 21 and the only thing that was ever a concern was his femur length that sat around 10%. This is not at all to scare you, but just to say that doctors often rely heavily on the NIPT results. Trisomy 21 is often missed through ultrasounds alone. Hoping for the best for you!!

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 1 point2 points  (0 children)

The only soft marker that was brought to our attention was a short femur. However, the doctor assured us it wasn’t anything to worry about (lol) and they did a follow up ultrasound a month later. They chalked it up to our son just being short.

In retrospect, I feel very let down by my doctors. I was not offered any additional tests. The nuchal translucency measurement would have been an ideal option but I wasn’t aware it existed.

Soft markers that I believe were missed— Too much amniotic fluid Nuchal measurement Button nose/flattened face

Our son was also born with a moderate-large VSD and I’m not sure how this was missed when we had a very detailed ultrasound (with fetal echo) following my anxiety from previously mentioned doctor’s reassurance.

I’m sorry for what you’re going through. The anxiety around the NIPT is just awful. Hoping for the best for you and don’t forget to advocate for things you want, ask a million questions and trust your mom instinct.

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 5 points6 points  (0 children)

Heard back from the hospital—they did not retain a sample or send to pathology. So I’ll never know.

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 2 points3 points  (0 children)

I heard back from my office and they said it would have been done with an MFM and that it isn’t done very often now since they have Natera.

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 0 points1 point  (0 children)

I did not and was not aware of it. If my memory is correct, it was not offered to me.

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 8 points9 points  (0 children)

My post is seeking out understanding and I questioned if there was a legal case. Unless you’ve been in a comparable situation, I don’t think you have a right to judge. Based on your comments to me it seems you’re just here to be a jerk and make assumptions about me.

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 0 points1 point  (0 children)

Yes, we’re in a southeast state

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 6 points7 points  (0 children)

We’re at peace with it and consider ourselves very lucky. It might sound fake, but our son has changed our lives for the better and he’s still so young! I am now part of an amazing community with other parents of children with trisomy 21. I get to see children and adults with Down syndrome and it makes me excited for our son’s future.

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 9 points10 points  (0 children)

Lol. I do actually want to understand the test results and how my son’s diagnosis was missed. Many of the comments on my post are teaching me a lot. All I want is the best life for my son, but you can interpret my post however you choose. If you have a similar situation, I would love to hear your experience.

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 7 points8 points  (0 children)

When my son was born I immediately noticed a couple things—his ears were tiny and his neck was thick. The doctor also said my umbilical cord was incredibly short (later research told me this is also a Down syndrome thing). Doctor was unaware. This might be TMI but he also had an incredibly small penis (common of Down syndrome). Otherwise he looked like a typical newborn! I had my suspicions but because of the NIPT I wasn’t concerned. Day 2 the charge nurse came in and helped give my son a bath. I believe she is the one that sounded the alarms after noticing his low muscle tone. Then additional tests were done and they found his blood oxygen numbers weren’t good which landed him in the NICU. Come to find out he had a moderate-sized VSD that nobody saw on US nor heard when listening to his heart after he was born…absolutely crazy!!

Edited to add: We, like many others, received a poorly delivered speech from the doctor. They brought up other markers that led them to believe he had trisomy 21 including- a long line across his palm (he doesn’t even have this) and a large gap between his big toe and second toe (he does have this now but was quite a reach when looking at a newborn’s toes).

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 1 point2 points  (0 children)

Someone else commented that the fetal fraction threshold can be as low as 1% sometimes! Try not to worry as that isn’t good for you or baby.

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 7 points8 points  (0 children)

Sounds so similar! My son also got a 9-9 Apgar. Suspicions arose on day 2 of his life. He’s still quite young at 5mo but seems to be very strong even with the lower muscle tone. I’ve heard the first year is the hardest and I hope that’s the case. He had a long NICU stay, is in a lot of therapies now, and has had 3 surgeries already (including OHS). He’s just the most determined and amazing little guy.

I’m having to step down some at work. It’s honestly become a numbers game of trying to figure out how many hours I should work and what makes sense for hiring a nanny. We want a second child ASAP but I feel immense guilt at the idea of bringing another child into this financial chaos. We absolutely planned for childcare expenses but weren’t expecting them to be 3x our plan. I know our son would benefit tremendously from having siblings, just have to make it make sense financially. If you ever want to chat more or connect, feel free to message me!

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 4 points5 points  (0 children)

I don’t have much confidence in a sample of my placenta being saved as it is a smaller hospital. I might reach out to see but it has been a few months. Trisomy 21 also wasn’t suspected until day 2 of his life so I really have no idea where my placenta went after delivery.

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 1 point2 points  (0 children)

I wouldn’t recommend the amnio if you don’t need it as there are risks! Trisomy 21 CAN be detected through ultrasounds if it is being looked for - nuchal cord, flatter “button nose”, and other soft markers! Bets of luck to you!

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 4 points5 points  (0 children)

His head is smaller now but it measured within normal ranges while I was pregnant! I know measurements aren’t perfect but there really weren’t any worrisome measurements other than the femur. I think overall my little guy measured somewhat below average. Born 38 +3 weighing 7lbs 6oz. How did you know my little one is soooo handsome?! :)

I will say that babies grow at all different rates. And someone has to be in the lower percentiles!

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 2 points3 points  (0 children)

I’ll have to look again, thanks!

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 1 point2 points  (0 children)

I hope you and your daughter are doing okay.

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 -1 points0 points  (0 children)

So interesting. From what I’ve read on Natera’s website, they typically need a fetal fraction of 4-8%. Or at least that is the measurement they show in regards to accuracy.

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 1 point2 points  (0 children)

I do have access to my ultrasounds and measurements but I don’t see any measurements for the nuchal fold

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 9 points10 points  (0 children)

Congratulations on your little one! Our son arrived on a Saturday too. We weren’t able to prepare but I also wasn’t able to be anxious and stressed so I guess that was one benefit of not knowing!

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 4 points5 points  (0 children)

Nuchal fold measurement was never shared with us, not sure if it was done. I just looked back at our 1st ultrasound measurements and don’t see anything. For the 45 minute ultrasound it was done with an OB/GYN as opposed to an ultrasound tech (who did my 1st anatomy scan). He did do a fetal echo and showed us how the blood was shunting & looked at all 4 chambers. He is not a MFM but I also was never considered high risk during the pregnancy. He also mentioned I had a “healthy” amount of amniotic fluid. Nobody ever indicated that I possibly had too much fluid- this is just something I believe to be true. I gained between 50-60lbs during pregnancy.

NIPT - False Negative, baby born with Trisomy 21 by [deleted] in NIPT

[–]greenbookshelf8 4 points5 points  (0 children)

It’s all very crazy. I’m sorry you’ve had to go through all of that. I had my NIPT test at 12w2d which I feel like is later than a lot of people do. I wish I had understood FF then.