I wanted to share my experience because I know how terrifying it can be to receive a high-risk NIPT result, especially when you’re told there is a significant chance of trisomy 21.
I had my NIPT through Prenato at around 16 weeks. My fetal fraction was 5%, and the result came back high risk for trisomy 21.
Obviously, I was devastated and terrified. I was 33 at the time of conception, and I had never expected to receive a result like this.
What made things even more stressful was that my nuchal translucency measurement had also been concerning. At my first ultrasound, it was around 2.17 mm, but on a subsequent measurement it was reported around 4.9 mm.
After taking the NIPT result and the increased NT into consideration, I was told that my estimated risk was around 73%.
Hearing “73%” made it feel like my baby probably had Down syndrome. I spent weeks worrying and imagining the worst.
However, my anatomy ultrasound around 18 weeks was reassuring. There were no obvious abnormalities, and everything looked good.
I eventually had an amniocentesis around 22 weeks. The first results (FISH) came back showing 0% trisomy 21 cells.
I still had to wait for the final karyotype, which felt like forever.
Then the final results came back: no trisomy 21 was found in 200 cells analyzed.
My baby did NOT have Down syndrome.
I’m sharing this because I know people often see statistics like “high risk” or “73%” and immediately feel like the diagnosis is almost certain. In my case, it absolutely was not.
The NIPT was a screening test, not a diagnostic test. Even with the additional NT finding, the amniocentesis was ultimately what gave us the definitive answer.
I also had a more complicated pregnancy because I have JAK2-positive essential thrombocythemia and acquired von Willebrand disease, so I was already being followed closely throughout the pregnancy.
After everything I went through, I’m incredibly grateful that I chose to have the amniocentesis rather than spending the rest of my pregnancy wondering.
For anyone who has just received a high-risk NIPT result: I know the waiting is horrible, but a high-risk screening result is not the same thing as a diagnosis. There can absolutely be good outcomes on the other side of that result. ❤️
I hope sharing my experience can give at least a little bit of hope to someone currently going through the same thing.

Hello,

First-time parents here, and we were given some very devastating news today. I am 12w1d, and today we went in for what we expected to be a normal first-trimester ultrasound. We had also just received our NIPT results yesterday, which were normal (negative for Trisomy 21, 18 and 13, and negative for sex chromosome aneuploidies).

During the ultrasound, they found increased nuchal translucency with a 9.2mm cystic hygroma. They also noted some extra fluid in a few other areas, though the doctor said some of it could be technical because we’re so early. We meet with genetic counseling on Monday, and if all goes as planned we’ll likely have a CVS next week after that.

It’s been a very sad and confusing day. We thought everything was going well, and now it feels turned upside down. We’re trying to understand what to expect moving forward. We hope to have more clarity next week, but in the meantime, if anyone has been through a similar situation, we would be so grateful to hear your story. We’d especially love to hear from anyone whose baby had a cystic hygroma or large NT with a normal NIPT, or whose hygroma resolved, or whose CVS or amnio came back normal. Any bit of hope or perspective would mean a lot right now.

Thank you for reading, and for any kindness you can share.

Processing img 986jjaj21bxh1...

Just had my 12 week scan today and NT was 3.3mm. Yesterday we got low risk NIPT results for major chromosomes abnormalities (FF: 13.2%, harmony). No other soft markers were found (nose bone present, all other morphological findings were normal). My blood work was also normal for free beta 1.056mom, and ppap: 1.156. The nurse offered us a CSV or aminiocentesis. However, it would only test for trisomies of 13, 21 and 18, with no expanded testing. All because NT is below 3.5. We also don’t qualify for earlier ultrasound at 16 weeks. With a normal NIPT, I’m scared of risking the amniocentesis. My husband would prefer not do it with the 0.7% chance the NIPT is wrong. Particularly because we would be only ruling out the same three genetic conditions tested in the NIPT. This is such a scary situation! I’m upset I don’t have another ultrasound earlier that could help me decide to do the aminiocentesis if there is additional markers at 16 weeks. It seems in this group that chances of false negatives specifically for trisomy 21 are low. Is that the overall feeling? If you have a similar situation than me, how did you decided on doing the amniocentesis ?

Did anybody have the same results at 9 weeks? I just had my ultrasound today which was flagged by the sonologist for what appears to be a thick fluid accummulation at the back. Anybody with the same experience and how did it turn out?

EDIT: Just noticed the typo in my post title, ugh.

Been lurking on this sub for the last few days, I figured maybe it'd help me feel better to actually post.

Earlier this week, I received my NIPT (Natera Panorama) results showing my baby screened high-risk for 22q11.2 Deletion Syndrome with a fetal fraction of 7%. Needless to say, I've spent the last few days feeling absolutely devastated while I wait to be contacted by the genetic counseling and MFM specialists to schedule an amnio. Everything has looked good so far on my ultrasounds, but I know that can only carry so much weight this early on (I'm currently 13 weeks 4 days).

I've read through probably close to every post on this sub talking about how false positives are common for this deletion, and I'm trying to stay as optimistic as I can while balancing a level of realism. At this point, my goal is to maintain the mindset that there will be plenty of time to be sad if this deletion is confirmed so I want to allow myself to continue to feel all of the joy and excitement about this pregnancy in the meantime.

I haven't spoken to anyone in my life about this situation yet aside from my husband, so I just needed to get it out and let someone else in the world know how badly I'm struggling right now.

Pliegue nucal de 6,9 mm a las 22 semanas: ¿alguien pasó por algo similar?

Mi esposa está embarazada de 22 semanas y en el informe del eco morfológico aparece un pliegue nucal de 6,9 mm. El resto de la anatomía se describe sin anomalías mayores, con corazón y líquido amniótico normales. No hemos realizado NIPT ni cribado combinado.

Estamos preocupados y queremos conocer experiencias: ¿alguien tuvo una medida similar? ¿Qué seguimiento o pruebas les recomendaron y cómo evolucionó el embarazo? Gracias por compartir.

TW brief mention of MC

Feeling scared, terrified, and everything all at once. Had our first ultrasound today at 9weeks 4 days. For some background information, I have a family history with Down syndrome and other mental disabilities, my mom and uncle. No one else in my family has had anything.

prominent nuchal lucency extending to the fetal abdomen with fluid at the neck measuring 2.1 mm. Is what we were told and we were referred to MFM for further evaluation but that won’t be until 11 weeks. Has anyone this early experienced the same?

What was your outcome? This would be my second pregnancy and my first ended in mc at 11 weeks and we did nipt testing as well with my first I got the nipt test back in 6 days so hoping with that result as well as it could be related to Down syndrome. My midwife said 50/50 chance but I’m terrified.
I’ve attached a pictured as well of our little bean. I noticed it IMMEDIATELY while at the ultrasound before we were told anything. Please has anyone experienced this what was you outcome at I’m only seeing things for people who had this at 11-13 and not much info before that

I’m really upset and need some positive vibes. My NIPT came back high risk for a sex chromosome disorder.

Does the fetal fraction matter? Mine is really low.

Has anyone else has NIPT flag for something and then you found out it was a false positive?

I’m hanging onto the chance that this is just a fluke 😔

Hi everyone! Everything looked fine on the ultrasound, except for an increased NT measurement of 3.6 mm. The nasal bone was clearly visible. My combined screening test came back with a 1:5 risk for Down syndrome. My PAPP-A was low (0.5 MoM) and my hCG was elevated (2.0 MoM).

I’m scheduled for a CVS next week, and I’m feeling really anxious. Has anyone had a similar experience with a positive outcome? I’d really appreciate hearing your stories. ❤️

Like many of you I had a Cystic Hygroma. it was septated at 10w6d. The MFM told me I would miscarry 1st trimester, he said be prepared for genetic issues, he told me my baby had a 10% chance of being “normal” expect fetal demise.

12w4 (different better hospital, better MFM) day separated cystic hygroma resolved but there was a neck cyst

13w ultrasound still had neck cysy

17w neck cyst gone but told baby had a brain condition vermis agnesis and would be in dandy walker spectrum meaning could be balance issues or not be able to talk or walk (very gray diagnosis)

20w went to better different hospital again with better MFM ultrasound showing similar finding vermis hypoplasia so similar ”diagnosis“ from week 17. devastated.

22w Fetal Echo normal

23w went to the better hospital (I transferred my care here and drive 5 hours round trip) for MRI. Expecting the worst as it took 1.5hours of imaging. brain is fine. 4th ventricle outflow is a little wider but functioning and everything else is great.

“I’d expect baby to have completely normal brain function”

as the dr was saying that I couldn’t believe it. I spent so many weeks and sleepless nights worrying and worrying, anxiety. Crying, praying to God help my baby.

we still have a long road ahead and we didn’t do genetic with amnio because we were carrying to term anyways so still may be a genetic issues, but I wanted to share that you know what’s best, keep fighting for your babies!

Did it work or was the diagnostic delayed due to it? I will be 12+3..

Anyone had a cvs with a posterior placenta? Did it work transabdominal or transcervical?
Did it work? Hope to hear from you!!

I think it’s been a couple of weeks since I got a call after hours from my OB’s office requesting that I come back to see her sooner than my already scheduled appt due an abnormal result on my NIPT test that was just received. Quest flagged my test for T21 and the result showed positive. Things are even more complicated because I didn’t get this test done until I was already past 30 weeks , I’ve dedicated all of my time to my other 5 kids(2 are under 4) and my youngest baby was released from the NICU earlier this year after 164 days and he still requires my extra support. I was so stressed during those months of not knowing if and when he would ever come home I didn’t even think my body would get pregnant under that much exhaustion and anxiety and depression etc but it happened. At first I was overwhelmed because I already knew another baby would take some of my time away from my baby boy but after finding out that it’s a girl I started to accept things and I thought well this is my girl and that’s it. I enjoyed feeling her kicks and punches and couldn’t wait to see how she came out looking because I just thought she would be adorable but now all of those emotions have changed. I don’t even feel like taking my prenatal pills anymore because it’s like what’s the point? Prenatal pills can’t make this baby any healthier if it does in fact have DS. All ultrasounds from the dating scan early on in my pregnancy to both anatomy ultrasounds I had with my OB and another with mfm doctor to the one I had recently at labor and delivery didn’t show any abnormalities except that the placenta might not be functioning the best possibly due to my elevated blood pressure but NT was normal and nasal bone easily visible and the baby honestly looks just like my other kids’ ultrasounds she has big lips and a big head and they all came out nice looking sometimes mistaken for girls early on. Mfm hasn’t suggested that I do amnio and is just having me come in weekly for ultrasounds and he didn’t seem concerned so far. I’m so sad and withdrawn and I haven’t even told dad that the baby might have this condition I just know he will blame and shame me and think something is wrong with my eggs. I refuse to buy anything else for this baby I just can’t do it. I’m weeks away from giving birth and my doctor told me that there is literally nothing that I can do like what does that even mean. Am I supposed to feel excited about these results? Someone on here told me that I don’t deserve a baby with DS like that’s so odd to think that that was an insult to me or something. I really do want a healthy baby and I don’t think there is anything wrong with that. I’m a great mom because I take care of my kids and don’t go out or anything I dedicate all of my time and energy to them but this I can’t do. My older kids asked me why I was crying on the phone but I didn’t tell them either. Isn’t it my choice to not have a baby with this condition? My ppv wasn’t 99% but kind of close like is there a possibility that this is a fluke? I’m kind of lost for words. The way I can compare how I feel is like imagine having a boyfriend/husband and something happens to you that’s non consensual with another person and now you have this baby inside of you that you are supposed to love and be excited about just because it’s technically your baby. I just want a healthy baby girl. I’m scared about the way she will look I’m scared that others will know what she has without me even revealing a diagnosis because it’s so obvious. I have no privacy and this is not fair. I need false positive/ baby actually didn’t have DS stories.

Received our nipt results two days ago showing high risk for xxy /Klinefelter syndrome. Have not talked to a genetic counselor yet and we want to do amniocentesis for confirmation.

Are ppvs this high usually false positives? I keep seeing that sex chromosome aneuploidy isn’t as accurate on the nipt testing as the others. If anyone knows any scientific articles on this, please share so I can read!

My husband and I are both young at 28, healthy, and this is our first pregnancy. We even took preconception vitamins for 3 months before trying for a baby and we quit drinking and bad habits long before that. I’m having a hard time wrapping my head around that we got this result when we were doing everything right.

Does anyone have any input on whether they think this will be a true positive or a false positive?

Hi everyone. I'm 33 and currently 17 weeks with our first baby, a boy.

Our NIPT came back positive for "low mosaic" trisomy 21, so we did an amnio at 15 weeks. The FISH showed 31 out of 200 cells with an extra chromosome 21, so about 15.5%. The karyotype is still pending.

Our early anatomy scan at 15 weeks came back normal. They did see an echogenic focus in the heart, but the doctors said it's common in healthy babies and the report said there were no markers for a chromosome condition. Some things, like the heart outflow tracts and parts of the brain, couldn't be seen yet because it was early.

We've spoken with genetic counselors, a researcher who studies mosaic Down syndrome, and a Down syndrome specialist. They told us that lower levels of mosaicism are generally linked to milder outcomes. But everyone also says the same thing: it could be anything from completely typical to some level of learning difficulties or intellectual disability, and there's no way to know before birth. We've read every study we could find, and there just isn't much data on low-level mosaicism found prenatally.

We're leaning toward TFMR, but we're torn, and we have to decide very soon because of the 20-week limit at our hospital.

I'd really appreciate hearing from Anyone who got a similar low-level mosaic result and continued. How is your child doing now? Anyone who chose TFMR after a mosaic diagnosis. How did you make the decision, and how are you doing now? Any adults with mosaic Down syndrome, or parents of adults, who are willing to share.

Thank you for reading. This has been the hardest few weeks of our lives.

Hi everyone ❤️
I’m currently 14+5 weeks pregnant and looking for some hope or similar experiences.
At 12 weeks, my baby had an increased nuchal translucency (NT) measuring 4.5 mm. At my early anatomy scan at 14+4, the doctor noted mild skin edema mainly around the baby’s head. The fluid around the neck and upper back is still visible as well.
The good news is that the rest of the anatomy scan looked normal, including the heart and brain. Our NIPT was low risk, and the rapid results from CVS (FISH/QF-PCR) came back normal. We’re still waiting for the microarray results and planning to do trio exome sequencing.

Has anyone experienced increased NT together with an edema ?
Did the edema eventually resolve?
Thank you so much to anyone willing to share their experience.

First pregnancy and first ultra sound. Baby heart rate was good and development seems to be on track otherwise. The hygroma is estimated 4.2mm on the back of the head/neck area.

We were told we have a 60% chance of the baby having a chromosomal abnormality. We did our blood draw for the NIPT test and waiting for appointment call from MFM referral. Overall we are crushed at this moment… not sure what advice I’m looking for, I know this is all a waiting game at this point.

Prayers please for our baby and any advice welcome.

Back on Sept 10th we received a high risk marker for T21 (about an 82% chance) on the NIPT and were referred to a MFM. Unfortunately because we are in an area with limited medical resources we had to wait until today to get seen.

After waiting for so long I've already gone from grieving and midnight doom scrolling to almost enjoying my pregnancy again. Now Im at 18+5 and at our appointment today the Dr has said (very gently) that she would be very surprised if he didn't have down syndrome. He also appears to have a very severe heart defect. We did the amniotic draw and will have that preliminary diagnostic the end of the week.

We've already decided we'll terminate if everything gets confirmed as bad as the ultrasound showed but i just feel numb.

I just wish I didn't have to wait so long before today and could have had this even 2 weeks ago.

EDIT: Im sorry my post here has caused so much turmoil. I was just hoping to get some support and maybe resources. Thank you and I'm sorry again to everyone who stood up for me.  I wish I could be better for those who are disappointed....

We are devastated to find the news of a high risk T21 pregnancy. Our report says 95/100, we met with a genetic counselor that did a calculation based off other factors and my age (31) that lowered the risk to 70%. I have a 3 year old and really worry what life will look like for him if he has a medically complex sibling. My fetal fraction seems low for being 15 weeks at the time of my NIPT. We are proceeding with extensive US and an AMNIO+FISH this coming Thursday. I’m holding onto the small hope that this is NOT true and is a false positive. My husband and I want what’s best for our child, and our 3 year old son. I am in medicine but not obstetrics. I deal with Down syndrome adults in the hospital so I see the difficulty those families face and the child with Down syndrome and I just don’t want that for our child, so we have agreed if this is the outcome that termination is what’s best for our family, but we are really really struggling with that thought and choice. We love this baby already and it breaks our heart thinking of losing him. Is there any hope?

Update: today did an extensive US of all structures and bone length. Baby is measuring on time and measuring normal. No soft markers found. Transvaginal also preformed and showed normal structures. I know US is not diagnostic, but I hope that gives us more hope than before. AMNIO cannot happen today due to membrane not being together- I’ll return in two weeks to try again. Until then I want to hold onto little hope I have.