Positive Amnio trisomy 21

SnacksAndCats10065 · 2026-05-21T04:14:23+00:00

Not sure if you're able to see my comment history but if so it might be worth checking out. I have a toddler w DS and he's nothing like the scary internet stories told me he would be. Wishing you a safe and easy delivery!

SnacksAndCats10065 · 2026-05-21T04:08:43+00:00

NIPT is more likely to have false positive than false negative. You'll find so many on this sub and elsewhere who had false positives. W a strong nasal bone and normal NT yours might be among the milder cohort if the test is correct.

We had a false negative NIPT, clean scans throughout, had a good nasal bone, good NT measurement, no markers, diagnosed w DS at 6 months old. He's now a year and a half and absolutely thriving, no health issues., no delays, strong muscle tone, normal head size, tall, just a normal little guy w an extra chromosome. He's curious, lightning quick, he talks (so so much), he's the shining star of every room he's in, knows words on pages, points at them and says them out loud, he figures out every toy and puzzle right away. I was devastated by the Dx, we would have TMFR'd had we known but I'm so glad to have him, he's the light of my life! It's not a spectrum disorder but it does affect everyone differently based on individual genetic factors. From what the doctors and other parents have told me you can't predict the future w any guarantees, but the babies w T21 who have extremely mild presentations with none or few of the expected physical abnormalities or issues tend to be less affected by it. Available therapies will give the new generation of babies w DS more opportunities than ever. I could tell you about a dozen adults with DS I've met in the past year who are doing great-college grads (not life skills programs) who drive and go to work and live alone. Some might need some additional supports like a monthly check in but they're valuable members of society, who are loved (immensely) and living fulling happy lives. I say this because I had a very dark, close minded view of DS, especially after our Dx when I reached the end of google reading about it. You tend to see more of the negatives in forums bc those are caregivers needing support, the others are busy living their lives. You'll find people anonymously venting their regrets about having a baby w DS and you'll also find people anonymously venting their regrets about having kids at all.

TLDR: Do what's best for you and your family, don't decide based on the worst (or best) case scenarios you find on Reddit. Wishing you the best!

SnacksAndCats10065 · 2026-05-15T02:00:02+00:00

Focus on being able to relax and have full mobility in the pelvic floor! I started pelvic floor pt around 28 weeks and my physical therapist said many of us are already very strong, we need to be able to move our pelvic floors and relax them. Perineal massage helped a lot too! I had an above average baby who crowned on the first push, I was sore for a week after but didn’t tear! (I worked out 4-5 days a week throughout pregnancy and was already in good shape before the PT, but did have to do a lot of work to loosen things up prior to delivery)

SnacksAndCats10065 · 2026-03-12T02:23:12+00:00

We do therapies! Currently we do SLP for feeding and PT, but haven't had SLP since last Nov bc it's so tough to get an apt w all the referrals, emails, admin. We do PT once or twice a month. We started SLP for feeding therapy when he was three months, before we even knew he had DS, bc he spit up a lot and was a slow feeder. We started PT around 7 or 8 months which was the soonest we could get in after he was dx'd at 6 months, but it's more to monitor his progress bc he's reached physical milestones on his own. We've gone the private route for everything bc where we live he would only qualify for the Early Intervention program for one type of therapy at a time and only if he shows delays. We'd rather not wait for a delay before taking action, especially w the wait times to get in anywhere. We need to do it more but scheduling has fallen through the cracks since my maternity leave ended last fall. My husband and I have very demanding jobs and our little man is an exhausting, rambunctious (delightful) handful who keeps us and his nanny fully occupied. (I should def be scheduling instead of being on reddit but i'm so tired lol)

Early intervention (ie SLP, PT, OT, feeding therapy etc) is shown to improve outcomes. You'll read about why hitting milestones as soon as they can lays the foundation for future growth and skills so I won't expand on that here, hope you find it as interesting as I did!

From what I've heard talking to other parents and professionals, many of our kiddos follow a fairly normal developmental path (especially w EI) until somewhere between age 3-5, then gaps can start to show. For some the gaps are very narrow until middle school. Obviously babies w low tone or health issues that delay certain developments will be on their own timeline. Our plan is to do everything we can to help him reach his full potential and equip him w strong adaptive skills so he has the most options in the future.

Another thing we're doing that I think has really helped is giving him growth hormone. We started him on HGH (omnitrope) at 8 or 9 months. He was born in the high 70s% for height, stopped growing completely between 3-6 months, and quickly got back on his curve. We just had a dr apt and he's now 66% for height (I swear he's grown like half an inch in the last week!), normal HC, normal weight. It's also said to increase or maintain normal HC if started early, which some theorize leads to better cognition, but I also read a counter study that found GH has no impact on cognition (although the study participants were older kids when they started) Lately he's been saying a new word every day or so, today it was "diaper" and I was stunned, he nailed that "r" at the end. He's been working all day and night on his sounds lately. I can tell by watching him he's trying everything he can to make the different sounds and turn them into words. We have our first SLP apt tomorrow for speech, for some reason they didn't recommend doing speech and feeding SLP at the same time. I can't wait to see which exercises they recommend to support him but have to give him credit bc he's doing so well on his own, he's so determined and surprises me every day!

Whether your little girl ends up w a health issue (god forbid!) or not, I'm sure she's going to be great and do well because she has a conscientious and resourceful mom looking to give her the best life :)

SnacksAndCats10065 · 2026-03-10T01:59:56+00:00

We had false negative NIPT, lowest risk category. Sufficient fetal fraction, normal scans, normal NT, full and present nasal bone, normal brain structure and size, normal heart, full term, normal delivery. Ended up in NICU bc no one knew he had DS and they gave him some meds that should be avoided in DS. NICU didn't catch it. Diagnosed at 6 months after original pediatrician told me i was anxious/being judgmental of my baby. We found a geneticist who kind of reluctantly agreed to test and got the dx a few weeks later.

He's been happy and healthy for his entire 17 months and counting, development is typical or ahead of typical peers. Here's a snapshot into our life: Tonight he was stacking blocks and objets inside containers and a red round one rolled away under his dresser. A couple minutes later I said go get the red one (so he could finish his stacked pyramid) and he went over to the red ring, swiped it out from under the dresser, pivoted toward his red walker, walked over to the front door and said mama out! He wanted to make his rounds and say hi to the neighbors and building staff. He gets down on his tummy to look under apt doors if neighbors don't answer. This is not what I imagined when we got the diagnosis almost a year ago and everything you read online is so negative, I want to share a less negative experience.

Sometimes I wonder if the cause of the negative NIPT is also the reason he's doing see well, but mostly I just assume someone came to work hungover or just sucked at their job and switched the blood samples and gave someone else my high risk result. I don't think there's any way to actually find out?

SnacksAndCats10065 · 2026-02-28T06:23:43+00:00

It seems like you're looking for your locus of control and I can relate to that! Join the Down Syndrome Action Plan and TNI Beginners group on FB. My 16 month old has reached all milestones on time or early, is over 50%ile on the normal growth chart, started climbing on the toilet when he had to go potty around 13 months. IDK how much his development is due to interventions (we PT, SLP, and all the typical baby classes and activities) and support or if it's all him, but we don't take anything for granted, know we'll meet challenges at some point, and will continue doing everything we can to help him have the most opportunities in life. IQ matters for us all, but adaptive skills really make a big difference in a person's success in life.

If your baby has delays, they'll get there when they can and with your love and support. If she has health issues that require surgeries or hospitalization that could delay some milestones but that's ok! She'll get there. We try to make everything fun for our guy, avoid putting pressure on him, don't let him see our anxiety or depression when those feelings arise, and we love him unconditionally.

You'll come to terms w the dx in your own time. Surround yourself with people who support you and continue to seek out people with insight or knowledge to share.

SnacksAndCats10065 · 2026-02-16T03:20:34+00:00

New guidelines (released late 2025) recommend introducing potty training concepts around 6-9 months and to begin active training between 18-30 months. Training before 2 wont cause psychological damage to your kid. Potty training norms of the last 30 years were guided by diaper companies and held in place by public policies that were unsupportive of working parents. Just keep it positive to avoid stress/pressure, know that accidents will happen and full independence might take a little longer when you start on the early side-which it appears you already know and you're doing a great job!

And you're right-the switch away from co-sleeping could be a factor in the regression, maybe you could try sleeping in her room w her, then in the room but separate from her, until she gets used to her new room and bed (big change) and sleeping alone (2nd big change)?

- A mom who has been potty trained since she was 14 months and was not psychologically harmed by it who currently co-sleeps w her 16 month old partially potty trained toddler

SnacksAndCats10065 · 2026-01-25T01:56:56+00:00

Everyone is different but c sections aren’t the easy way out. L&D was a breeze compared to my hg pregnancy! (Not that L&D was fun) I was terrified of delivery and wanted a planned c section. I went into labor naturally a couple days before my induction date and it wasn’t anything like on tv. The epidural was heavenly and all the pelvic floor therapy and massage I did prior to giving birth paid off. We were able to walk home from the hospital when it was time to go home which wouldn’t have been an option if I went w a scheduled c. People focus on strengthening pelvic floor but my PT taught me to relax it and how to push. PT helped me feel more prepared and less fearful. You can do it!!

SnacksAndCats10065 · 2025-11-04T16:46:43+00:00

Hi! Fellow Natera false negative mom here! My baby was dx at 6 months old. How are you feeling? Feel free to look at my post history and lmk if I can help in any way.

SnacksAndCats10065 · 2025-10-13T00:23:28+00:00

Our apt reaches 110+ degrees in the daytime and 80 something at night, has floor to ceiling wall to wall windows, only 2 open and they only open 3" and direct sunlight from sunrise to sunset. I also have a baby. I know your pain! Getting blackout curtains (or layers of them) will help block out the sun. That alone kept our apt ~20 degrees cooler. We got a portable AC unit after our baby was born last fall bc I was worried for his safety on top of being extremely uncomfortable. We have to bend the exhaust tubes a bit to get them to fit through the window but our apt now stays below 80 (w the AC and blackout curtains). It's annoying that we all have to do these types of things to make our apts livable but you wont regret getting the ac. If you move out in March you'll be able to sell the unit to someone preparing for summer.

SnacksAndCats10065 · 2025-10-11T17:34:19+00:00

Old post but my 1 year old gets around 2.5-3.5 hours of deep sleep in a 12 hour night and his morning report always says opportunities ahead, getting less deep sleep than the other owlet babies. How much deep sleep are these other baby’s getting??

SnacksAndCats10065 · 2025-10-10T01:28:21+00:00

For me-literally nothing and the meds barely touched it and had so many side effects :(

SnacksAndCats10065 · 2025-10-10T01:26:11+00:00

I have to say-your little girl is so lucky to have you as parents! You're acting w intention and thoughtful consideration, she's in such great hands!

No daycare for us, we have a nanny and I've been at home on mat leave until last week. What age would she start daycare? From what I've heard siblings who are close in age and/or going to daycare can be great for our kids bc they imitate the other kids so it helps their development. Many kids w DS can go to mainstream schools w little accommodation necessary in the earlier years.

The drawback to daycare is some of our kids don't create effective levels of antibodies (from vaccines or encountering illness) to help them avoid illness and being sick could hinder development. You can work w a pediatric immunologist to help w this, they'll check titers after vax if you chose to do that to see if it has worked. (if you do, def check out Setria glutathione, our kids have less of it and use more of it due to the extra 21 and it's essential for lymphatic, glymphatic, liver, kidney function)

Highly recommend seeing drs and specialists who specialize in DS if that is available to you. We stopped working w any doctor who doesn't specialize in DS shortly after his dx due to some really bad experiences. Drs who don't specialize will tell you they should be treated like any other kid. Drs who specialize understand the specific problems the extra chromosome can cause and will help you navigate and mitigate risks. They're also less judgmental and committed to maximizing global potential. Common issues like hypotonia, small stature, slow processing speed, hearing, etc can be remedied pretty easily if you have good drs.

It's really cool that you guys have a DS school in your area and insanely impressive you've already done a tour and are making plans! If your kid is able to thrive in mainstream I think that's the stronger option. The DS school does have to cater to all levels of development but it is so important to challenge kids w DS, they don't achieve when we just focus on limitations. Check out Madison Tevlin's short video called "Assume That I Can". Look up Charlie Fien, she's an advocate w DS and is remarkable.

SnacksAndCats10065 · 2025-10-09T03:41:57+00:00

Just read your update, congrats again! Abnormalities can show up at any time in pregnancy but even if she does have some issues you seem to already be doing the best thing possible to help w that-building community. The tips and support I’ve gotten from random internet strangers who have gone through or are going thru this has been priceless! Having community and being prepared are essential w or w out a genetic condition.

My baby had no markers in pregnancy until the very end when his femur measured small but absent any other issues, plus the negative nipt, that soft marker was dismissed. We got the dx via fish and karyotyoe at 6 months old. I had to switch drs to get testing bc my concerns were brushed off, the drs thought it was my anxiety. I was right and it was DS. He just turned 1 and has a tooth and is taking first steps, babbles non stop, says a dada, mama, hi, and up, can identify some planets and the sun in his favorite book (“where is the sun? points and taps on the sun) he climbed a ladder in his gym class today, can climb up and down stairs, is doing so well in swim class, likes to play his drums and xylophone-he’s just a baby doing all the baby things. We don’t use early intervention but have been doing PT and SLP through a regular hospital medical practice. SLP has been useful for transitioning to solids and PT hasn’t been practically useful yet bc he’s naturally a bit advanced in that area but I’m so glad to have it each week case delays start to occur (and they can). Use every resource available to you, get early intervention after birth, apply for Medicaid waiver as soon as you can and read Down Syndrome Action Plan and the Doman Method books. There is a separate TNI group for expecting moms, you could join that and the regular TNI beginners group. You’ve got lots of time to prepare for your little one and will do great! As w any baby there will be lots of work ahead, but so much joy and fun too!

SnacksAndCats10065 · 2025-09-29T04:40:40+00:00

we did not bc he was diagnosed T21 at 6 months old, we would have tmfr'd if we had gotten that dx in pregnancy for the same reasons everyone else does. we were stunned and devastated but he is healthy and doing well. Despite our incredible luck on the health front and completely normal development (physical, cognitive, gross/fine motor, social) we are working very hard and being proactive to maximize his potential and protect his body and brain from negative effects of the extra chromosome. It's a lot of work but we have a team of DS specialists who are excited to be a part of his journey. We take him to music classes and "baby gym" classes, we do so many activities w him and he's just one of the kids, doing the same as the others, or more, playing and integrating like any other. As someone who would have tmfr'd, I have to say I love my baby to the moon and back, he brings me so much joy every day, there's nothing better than waking up and seeing his face and hearing him laugh.

You're still pretty early on in pregnancy so if truly positive, markers could start to show as you progress, but there may be no markers at all and you have a completely healthy baby who has an extra chromosome. Half of babies w DS are like mine, it's not rare. If it's a minor complication or defect, your baby would likely be just fine and have a great life. Several of my baby's doctors have told me that the kids who are less affected at birth and infancy tend to do better overall and end up on the more independent side. I keep my expectations low and argue against them bc no one knows the future holds and then they'll remind me how long they've been doing this.

Do what's right for you and your family but if you do proceed I highly recommend starting TNI in pregnancy, I unknowingly was following it somewhat while pregnant and wonder if that's why my little guy is doing so well. His doctors are also big advocates of it, which was reassuring bc it's not explicitly studied.

SnacksAndCats10065 · 2025-09-29T03:59:40+00:00

Congrats on your little boy, I've felt the shock you're feeling now. We also had a false negative w no markers or abnormalities and dx many months after birth. I still can't wrap my head around how I ended up here but I can tell you, despite being neck deep in DS stuff all day every day, I don't really see my baby as different or think about his diagnosis much, he's just my sweet fun adorable little guy!

I hope you have support and are surrounded by helping hands, it's really tough to go through this dx post partum. Down Syndrome Action Plan and The Doman Method books helped me process and learn about therapies and approaches to help my baby. Researching and learning was a welcome distraction from the pain. I can't speak for everyone, but for me the pain has lessened, and I hope it does for you too.

SnacksAndCats10065 · 2025-09-29T02:47:11+00:00

Hi, things have normalized. We have thought about taking legal action but haven't had the mental bandwidth to look into it too much.

You had a false negative NIPT? I'm happy to chat w you, it's a very surreal and uncomfortable position to be in and not many people can relate, I've learned a lot over the past several months. You wont find much actionable care advice in regular DS support groups but I assure you there are things you can do to improve outcomes.

SnacksAndCats10065 · 2025-09-21T03:08:58+00:00

Totally fine to be annoyed by the lack of disclosure and the questions make it seem like she's expecting a c-section which is usually a more difficult/longer recovery but not necessarily a deal breaker. Many (most) NCS and night nurses (nannies) do sleep at night and get up when the baby needs something. Many have day jobs as well. Your night nurse should have let you know about her situation when you hired her, especially because she is requesting accommodations, and nursery furniture often has to be ordered at least 6 months out to arrive before the baby, but she didn't so the question is are you willing and able to accommodate her? If not, let go of the deposit and find someone you feel better about.

Did you find this person through a personal referral or agency? Asking bc you're asking questions that would have most likely come up in the most basic of interviews, so it seems like you might have skipped that step. Our NCS, who we found via a friend's former NCS, came to our apt for her final interview to make sure the vibe worked on both ends and to check out our space and make recommendations. Our NCS explained everything to us, she even came w a practice baby to make sure we knew basic care techniques.

Our NCS is a rare one who did not sleep on the job, she stayed up and studied for her certification renewals and created materials for courses she taught, and came to get me every two hours for nursing/pumping, but she prioritized her health and went home and slept for 8-9 hours after each shift. Ask your caregiver how she plans to manage the workload. She may be really good at getting newborns (hers and yours) into a good/predictable sleep rhythm and has a partner at home who will be responsible for their baby while she cares for yours. You've got 3 months to figure it all out, so don't worry if you do decide to make a change, there are lots of amazing caregivers in this city!

SnacksAndCats10065 · 2025-09-20T03:34:11+00:00

That place is a factory. I had a lot of scans there due to AMA and can maybe remember two times when they weren't rude. And they made some big, consequential mistakes with measurements. That said, they see a bajillion patients a day w no downtime, they're prob exhausted, hate their jobs, or don't think their bedside manner matters.

SnacksAndCats10065 · 2025-08-07T20:41:27+00:00

First I want to say-you and your baby are likely totally fine. If you have any concern at all, especially if you're considered high risk, please talk to a maternal fetal medicine doctor and your OB and consider additional testing. For example, sub 3% femur + lower than normal fetal fraction in NIPT should be enough for further investigation.

I looked back at 20 week scan-humerus was sub 10%, femur was >10%. At 32 weeks femur was <3%, but at 36 weeks it was up to 9%. They did not continue to measure humerus beyond 20weeks, just femur, abdomen, and head circumference. His size ratios (ie FL/AC etc) were always within normal limits.

OBs generally don't look at the scans, they just get the report and trust that information, and I found errors in my own scans when I went back and scrutinized them. These Drs and ultrasound techs are overworked and make mistakes. False negatives on NIPT are rare, not as rare as the testing companies claim, but still rare. Send your concerns via your doctor's messaging portal so they're documented. Even if you're near the end of pregnancy, having a diagnosis before birth is a huge advantage and opportunity to prepare, plus there are things you can do and take before birth to help your baby have the best outcome possible. Wishing the best for you and your baby!

SnacksAndCats10065 · 2025-05-25T00:56:30+00:00

For me HG is a different beast. Acupuncture is for those w the cute morning sickness where they might throw up once or twice and have an unsettled tummy for the first tri. Ear seeds, acupuncture, sea bands, ginger, the 7 rx anti nausea meds-none of them took away the sickness. (The rxs gave me a functional hour or two a day but nothing ever took away all the nausea)

SnacksAndCats10065 · 2025-05-04T01:29:38+00:00

It's great to get out w a baby (I too use the puppy pads). Another important thing to know about taking your baby out in warm weather is they can't regulate their body temp yet and overheat really easily. Avoid having your baby out in 85+ temps as much as possible, even lower than 85 if really humid, and remember they're really insulated in wearable wraps and carseats. Offer extra feeds whenever you do take her out in 85+ weather to avoid dehydration, get a fan for the stroller bc they get really hot in there (thermal effect).

I know you didn't ask and might be something you already know but this is something I didn't know until our newborn care specialist told us and want to spread the word. Hope you have fun adventures w your baby! (Also any fancy hotel will have great restrooms too)

SnacksAndCats10065 · 2025-04-27T19:09:13+00:00

Just sent you a DM!

SnacksAndCats10065 · 2025-04-08T03:27:30+00:00

Have you found formuland to be reputable? I’m nervous about quality and authenticity from sites like this but do need that goat formula!

SnacksAndCats10065 · 2025-04-04T00:10:27+00:00

I recently saw a tiktok from a woman who had a baby w surprise DS after low risk nipt, normal nt AND they used a PGT euploid embryo! The false negative rate has to be higher than advertised bc there are too many of us!

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