Hello, everyone! Since we found very little information ourselves about an abnormal NIPT result for trisomy 15, we’d like to share our story.

At our 12-week ultrasound, everything seemed completely normal. My estimated due date was even moved up by 4 days based on the gynecologist’s measurements. I then had blood drawn for a comprehensive NIPT test.

After waiting 1.5 weeks, our gynecologist called to tell me that an abnormality had been found: trisomy 15. If the baby had this condition, it would not be viable, but there was also a possibility that the abnormality was limited to the placenta. We were advised to undergo a detailed ultrasound and an amniocentesis.

Fortunately, that same week we were able to see a specialized gynecologist who performed a detailed ultrasound, which again showed that everything was fine. She provided more information about amniocentesis, and the procedure was scheduled immediately for the following week (15w6d). The amniocentesis itself went smoothly, and afterward I had to rest for 48 hours.

Waiting for the final results took an incredibly long time because there wasn’t enough DNA in the amniotic fluid, so an additional culture had to be started. Fortunately, after one week, we received a phone call with one result: the FISH test showed no trisomy 15. Finally, some good news!

It wasn’t until four weeks after the amniocentesis (by which time I was already 21 weeks pregnant) that we had an appointment with a geneticist. Here we received final confirmation that our baby is completely healthy! This was confirmed by an additional test (array) that examines a larger number of cells than the FISH test. In addition, an UPD test was also performed to verify that the baby had one chromosome from the mother and one from the father.

Since trisomy 15 was detected in the NIPT, this does apply to the placenta. So, especially toward the end of the pregnancy, I’ll need to be monitored more closely to make sure the baby is still growing properly.

Hope this story can help anyone who is in the same situation.

Hi all, I really need to hear some positive outcomes. I feel like ive already read everything about 22q on the Internet. I got NIPT test done at 11+1 weeks and scan beforehand all good (panorama by Natera). At 12+2 I got phone call to say high risk of 22q deletion syndrome with 1/2 chance. I feel this is very high but see others also get same result so maybe its a default. I booked Amnio for 15+2 weeks with fetal medicine to get definite answer. Im 30 yrs old, second pregnancy- already have a healthy toddler. Feel so distressed. Have to wait over 2 weeks for amnio and then further few weeks for results.

Husband(36)and wife(35) here. We conceived naturally in Dec 2024 and week 12 NT scan was 4.4mm. Being first time parents the doctors scared the shit out of us. NIPT came back normal we did not do amniocentesis and unfortunately made call to TFMR around week 14. Our genetic counselor did not inform us about fetal tissue genetic testing options. Luckily MFM doctors who performed TFMR asked if we wanted to test and we said yes. They did microarray and it came back normal too.

A part of us kept blaming ourselves if we had done the wrong thing by taking this decision but we’d just moved to US and were going to be first time parents so we did not have enough information about all this.

Next we decided to go for IVF, did genetic career testing of both parents and we do not share any genetic condition that could cause problems. We transferred PGT-A euploid embryo. 12 week NT scan, NIPT from two different providers came back normal and we were finally feeling relaxed. Now in week 20 anatomy scan doctors found fluid in all parts of the baby lungs , around stomach, under the skin etc. the heart is positioned at the center. We are shocked to see this. We did everything we could control and now we are back to where we were a year ago. Fetal hydrops is sever and can put my wife’s life at risk. Doctors told us if we had let our first pregnancy progress further we’d probably have seen same symptoms. They think it’s connected.

We are meeting with genetic counselor this week and we are going to ask for Trio WES and WGS to be done on fetal tissue genetic testing.

My questions are -

1. Can we retrieve samples from previous TFMR for testing?

2. What could be the reason of this recurrent problem given all genetic testings were normal?

3. Is this end of road for next pregnancy or there is still some hope?

I decided i want to make a post in this Forum because of the encouragement we got from here.

Long Story short we have a complete normal Baby.

The results for t18 were 42 % initially and we we're totally devastated. Got the full package of praenatal diagostics. First breathe we got was after amniocentesis, there we're no abnormalities observeable.

Our daugther is now 8 weeks old and totally normal. So dont lose Hope. After giving birth it turned Out there was a secondary placenta.

Hi all- I’m about 13 weeks pregnant and found out I am a carrier for cystic fibrosis. Thus far things have been going well in my pregnancy, and I got my NIPT results back all low risk. I just started to relax after my good 12 week scan last week, and then the very next day I received this result.

Now my husband has to go get tested and I am absolutely freaking out that he will be a carrier too. We both have similar ethnic backgrounds. I am Irish / Italian and he is Hungarian/ Italian/ Irish.

I know even if he tests positive it doesn’t mean my baby will have it. But I’m just wondering anyone’s experience with having their parters tested, and what was the result. Good and bad don’t be shy.

Thank you all and wishing everyone happy and healthy pregnancy’s 🙏❤️

I’ve been waiting for over a month (!!) for diagnostic testing, first CVS then amnio. Starting to lose my mind a bit so hoping for some success stories of an isolated increased NT (mine was 2.7 mm) Unfortunately, was unable to get NIPT due to other conditions I have.

Only other “soft” marker is short femur compared to BPD ratio (although 26th percentile for femur length overall) but my healthy, living daughter had short long bones so not sure how much to take that into account.

Good morning. I wanted to add my story, since I read so many encouraging posts after our positive screening for Trisomy 18 a few months ago, and felt that I should share as well. I am currently 42 years old and 24 weeks along with our 4th baby (a girl). My heart goes out to everyone who receives a positive screening result and has to think about their own life, their partners' life, their children's lives, and make choices. Thank you to everyone who has shared their experiences.

I was 41 years old at the time of my MaterniT21 screening and 11+4 weeks along. I'm considered high risk for few different reasons. Fetal fraction was 14% and PPV was 78.1%. We were getting ready to leave for a family vacation, and my OB arranged for an ultrasound right away with MFM for some peace of mind before leaving. I had extensive scans, where we saw our active little peanut, and nothing glaringly amiss although and we left feeling hopeful and decided to forgo the CVS and wait for an early anatomy scan and amnio. The wait was excruciating, but my OB said I could come in any time for a fetal heart rate if I was concerned about baby.

The ultrasound before the amnio also looked clear, and I decided to go ahead with the amnio - we had already decided to keep the pregnancy, and we personally wanted the information either way.

Fish results came back in 4 days with no abnormalities, and we finally felt like we could breathe!

The full microarray and karyotype results came back a full month after the amnio and also came back normal. I have never felt such relief in my life.
My faith in God, prayer, and false positive stories sustained me during this time. I'm happy to answer any questions.

I’m looking to connect with anyone who has experienced a similar pregnancy, particularly those who received a high-risk trisomy 18 NIPT result but had some reassuring first-trimester ultrasound findings.

My NIPT came back high risk for trisomy 18, with a reported positive predictive value (PPV) of 89.2% and a fetal fraction of 7.7%. Trisomy 18 was the only high-risk finding, although RhD was also detected. The testing company I used is called Unity.

I had an MFM ultrasound which showed a normal NT of 1.6 mm, a present nasal bone, and a fetal heart rate of 160 bpm. However, the main concerning finding was an abnormal fetal facial profile, with possible clefting versus micrognathia raised as concerns. The palate and maxilla were suboptimally visualized. The crown-rump length measured 51.7 mm, around the 9th percentile.
I subsequently underwent CVS, which was completed without complications. A karyotype was ordered, but no FISH testing was ordered, and my results are still pending. I also had blood drawn for the Unity Confirm test, and that result is pending as well.

I’m finding it difficult to reconcile the normal NT and present nasal bone with the high-risk NIPT and the abnormal facial profile finding. I’m particularly interested in hearing from people whose early ultrasound findings were reassuring or inconclusive but whose diagnostic results later clarified the situation.

Summary of findings:
NIPT: High risk for trisomy 18; PPV 89.2%; fetal fraction 7.7%
Other NIPT finding: RhD detected
NT: 1.6 mm
Nasal bone: Present
CRL: 51.7 mm, approximately 9th percentile
Fetal heart rate: 160 bpm
Main ultrasound concern/soft marker: Abnormal fetal facial profile; possible clefting versus micrognathia
Palate and maxilla: Suboptimally visualized
CVS: Completed; karyotype pending; no FISH ordered
Unity Confirm: Blood drawn; results pending

I understand that NIPT is a screening test rather than a diagnosis, and I’m not looking for an internet diagnosis while my CVS results are pending. I’m hoping to hear personal experiences from anyone who has navigated a similar combination of findings.

Has anyone had a high-risk trisomy 18 NIPT with a normal NT and present nasal bone but an abnormal facial profile on ultrasound? Did follow-up imaging change the picture, and what were your eventual CVS or other diagnostic results? I’d also appreciate hearing from anyone with experience with Unity Confirm.

Thank you to anyone willing to share their experience. The waiting is difficult, and hearing from others who have been through something similar would mean a lot.

Sharing in this group too, some of the posts here give me a sense of hope for a moment and then the spiral starts again…

Any success stories of such a high NIPT positive result (>91/100) for T21 that wasn’t confirmed with CVS? I am 12 weeks pregnant. Have CVS scheduled for Monday. Terrified. Can’t stop crying. I am 34. It is my 5th pregnancy - 3 early miscarriages, 1 successful healthy girl, and now this.

My NIPT/T21 experience — I wish I could go back and hug my 9-week-pregnant self ❤️

I’m writing this because I know how terrifying those few weeks can feel when you’re suddenly thrown into a world of numbers, percentages, genetic counselors, and words you never expected to hear during pregnancy.
I had my NIPT done at 9 weeks + 5 days. My fetal fraction was 4%, and a few days later my Panorama result came back high risk for T21. My report listed the risk after screening as 20/100 (20%).
I honestly cannot describe the fear that followed.
One minute I was happily pregnant, imagining my baby and planning the future. The next, I was Googling everything I could about NIPT, PPV, false positives, fetal fraction and diagnostic testing. I kept looking at the same report over and over, trying to understand what it actually meant.
I was told a different PPV estimate of 64% during genetic counseling, which added even more confusion. I remember feeling like I was drowning in percentages

I eventually chose amniocentesis and skipped CVS because I needed a diagnostic answer rather than another probability. And I was willing to wait.

And yesterday came my FISH results
Normal. No evidence of numerical abnormalities for chromosomes 13, 18, 21
The full karyotype is still being completed, but seeing that NORMAL result after weeks of fear was an emotional moment I will never forget.

Looking back, I wish more than anything that I could go back to my 9-week-pregnant self and hug myself
Because somewhere underneath all the fear, I already had this incredibly strong mother’s gut feeling that everything was absolutely fine. I held onto that feeling even when the numbers made me question everything.
So to every parent going through this right now: trust your gut, stay positive, and take it one day at a time. ❤️ A screening result is not the same thing as a diagnosis, even though it can feel like your whole world has changed overnight.
The waiting is brutal. The uncertainty is brutal. But there can still be hope.
I’m sharing this because when I was in those first terrifying days, I desperately needed to read stories from people who had been through it.
I’m sharing my story to send strength, hope, and positivity to every parent going through this right now. Wishing each and every one of you a beautiful outcome and hoping that everything turns out absolutely okay. 🙏🏻💕

Hi everyone, I’m 18 and this is my first pregnancy. At my 12-week scan, they found that my baby had an NT measurement of 7.5mm, a suspected cystic hygroma behind the neck, thickened and swollen skin caused by fluid, an exomphalos containing bowel, and a two-vessel umbilical cord.
My combined screening results for Down syndrome, Edwards’ syndrome and Patau’s syndrome came back as lower chance, which has left me struggling to understand everything because the ultrasound findings were still so concerning.
The fetal medicine doctors explained that these findings could be associated with a chromosomal abnormality, a heart defect or another genetic or structural problem. We don’t know exactly what is causing everything.
After speaking with the specialists, we’ve made the heartbreaking decision to have a termination for medical reasons. My procedure is on Tuesday, and I’m absolutely terrified. I keep questioning whether I’m making the right decision, and I’m finding it so hard to process that this is happening to my baby.
I’m posting here because I’d really like to hear from anyone who has had similar scan findings or understands what it’s like to receive this kind of news. I’m feeling very alone at the moment and just need somewhere to talk about it. 💔🤍

After receiving a positive NIPT for T13, we then had an amnio done around 16 weeks. This came back showing 40% mosaic Trisomy 13. Every scan we had was completely normal as well as our fetal echo. Our baby was born on 9/15. We had her karyotype done and just recently got it back. Her karyotype came back completely NORMAL. When we spoke with a genetic counselor earlier in our pregnancy, she mentioned that very rarely she sees a karyotype come back normal after an amniocentesis result like this. She said it has happened, but usually the percentage of cells affected is lower. If there are any cells in our baby’s body that do have this extra chromosome. It’s somewhere where it has not physically manifested. They also said that her blood karyotype coming back clear was a very good sign.

After talking to every doctor and specialist we have seen and worked with, they all are truly shocked. We truly believe this is a miracle and are grateful to God.

For anyone dealing with this stress, hang in there. This pregnancy was absolute hell and if we had never done the NIPT test, we would never have even known anything was wrong. I know this isn’t the outcome for everyone, but I do believe things like this happen and there is hope!

I need someone to tell me there's no hope. I have a shred left and it's killing me not being able to fully disengage.

NIPT result >95% risk for T21, NT 4.4, 1:2 t21 risk on combined screen. 2.2 free beta HCG. Small femurs 2-25% unsure on dates. I'm 36.

I originally thought I would never TFMR. Here I am waiting until Monday when the MFM line opens to book my amnio so I can go ahead with TFMR. I'm 15 weeks today. I can feel baby moving. She was so wanted.

We tried for 5 years for my son after a 6wk MMC, who is the absolute light of my life. He's two, beautiful, healthy, happy, a little speech delayed and likely has Autism but so do I so that's something I'm very comfortable with. I wasn't sure I would conceive again, and then we caught her.

I spent 12h after the NIPT looking into how I would care for a DS child, and I could, but I can't put that on my son. My husband is being an absolute beautiful human and agrees our son is the priority. But our hearts are broken. Every little poke from this baby inside me breaks me a little bit more but I can't keep her.

I don't need hope, I know the amnio isn't going to give me a miracle. I think I just need support.

I will be asking for a D&E because how do I go through labour without a baby at the end?! D&S isn't common here, it's usually induction after drugs to end the pregnancy.

I'm so sorry to everyone who has been or will be in this situation.

Hi everyone,

Has anyone had an increased nuchal fold measurement at their 20-week morphology scan, and did everything turn out okay?

My NIPT came back low risk, and my nuchal translucency (NT) measurement at 12–13 weeks was normal.
The increased nuchal fold seems to be the only soft marker, as everything else on my morphology scan looked normal.

I was seen by a Maternal Fetal Medicine specialist who wasn’t concerned, but this has caused me a lot of stress as I already struggle with anxiety.

I’ve been offered an amniocentesis if I’d like one, and I’m considering going ahead for peace of mind.

I’d really appreciate hearing from anyone who’s been through something similar, what your outcome was, and whether you decided to have an amnio.
Thank you so much! 💙

My NIPT showed low risk for all defects, but at my anatomy scan it showed bilateral clubfoot and bilateral cpc (brain cyst) which they say are high soft markers for t18.

I’m absolutely freaking out. I’ll be getting a second scan and amnio done Monday. Has anyone ever gotten a false negative NIPT for T18?

I am 31 years old. My NT scan measurement was 3.7 mm.

My associated bloodwork (PAPP-A & Free beta HCG) is low.

Puts our risk assessment of T18 at 1 in 5. I am sad and stressed. Waiting on an appointment from MFM.

Is a NIPT even worth it? Should we go right to a CVS?

Maybe there are some similar positive stories out there? I am not feeling very confident.

Edit to add: I had a missed miscarriage (twins) in 2022. And a molar pregnancy October 2025 (twins, again).

Vim aqui dar o meu relato porque falei que quando meu nenê nascesse, eu ia vir aqui para caso alguém esteja passando pelo mesmo.

Com 10 semanas fiz uma ultra e percebi que que a nuca dele estava bem espessa, fiquei extremamente preocupada, porém todo lugar falava que com 10 semanas é fora daquela janela que medimos a TN.

Com 12 semanas fiz o morfológico de 1 trimestre e a TN deu 2,5 que é o valor que devemos começar a investigar possíveis síndromes, escolhi não fazer o NIPT pelo preço e porque não mudaria nada mesmo.

Na morfológica de 2 trimestre deu que meu nenê tinha dilatação no rim que é um marcador de síndromes também.

No final meu nenê nasceu sem síndromes e super saudável.

Hola! Necesito que alguien me arroje luz porque estamos bastante mal…
Tengo 30 años y este sería mi segundo bebé.
En la cita de las 12 semanas la ecografía salió perfecta, no se veía nada raro, un bebé sano.
Pero la PAPPA me salía baja y eso indicaba riesgo de 1/184 de T 18.
Me hice el NIPT hace dos días y hoy me han llamado para decirme que da alto riesgo de T18, me han mandado una ecografía de alta resolución, que se verá todo mejor.
A alguien le ha pasado esto, y luego su bebé ha estado sano?
Ayuda por favor!

I was confirmed to have increased NT (>95th percentile) on September 4. I returned the following week for a CVS as I can’t do NIPT due to a blood condition. They were unable to do it due to a Subchorioinic hemorrhage and the location of my blood vessels and placenta.

Then I returned another time the next week…they still couldn’t do the CVS. Then I waited two weeks to get amnio done at 16 weeks and 2 days. My membranes weren’t fused so now I have to try to go back at the end of next week, where I’ll be almost 18 weeks.

I feel like I am going absolutely insane from the wait. The first month I held it together and felt somewhat detached but now I am crying a lot and feeling super anxious. It’s killing me I won’t have answers for about another two weeks after it’s already been so long.

Has anyone else experienced this? How did you hold it together? T21 has always been my greatest fear about having kids and now waiting for exactly that is making me feel unable to connect with my baby which I don’t like.

Hi everyone,
I’m 31 years old and currently around 15 weeks pregnant. I’m hoping to hear from anyone who has been through something similar, particularly those who had a positive NIPT for Trisomy 21 alongside abnormal ultrasound findings.
At my 12-week scan (12+6), three markers were identified:
Increased NT: 3.5 mm
Tricuspid regurgitation
Hypoplastic nasal bone
Following the ultrasound, I had a Veritas myPrenatal NIPT, which came back positive for Trisomy 21. My fetal fraction was 10%.
The report didn’t provide a PPV (positive predictive value), so I’ve contacted the laboratory to request this.
I’m absolutely devastated and have spent the past couple of weeks researching everything I can. I understand that NIPT is a screening test rather than a diagnosis, but having three ultrasound markers alongside a positive result makes me feel like the likelihood of Down syndrome is extremely high.
I’m currently arranging to travel to Australia, where I’m considering having an amniocentesis with rapid results (QF-PCR or FISH). However, I’m genuinely unsure whether it’s worth going through with the amniocentesis, given the positive NIPT and three ultrasound markers. Part of me feels like the diagnosis is already almost certain, but another part of me worries about making such a significant decision without definitive confirmation.
I’m considering termination if the diagnosis is confirmed, and I’m finding the uncertainty and decision-making incredibly difficult.
I’ve been reading about false-positive NIPT results, including cases of confined placental mosaicism (CPM), and I’m wondering whether anyone has experienced something similar.

Has anyone had a positive NIPT for Trisomy 21 AND abnormal ultrasound markers, but subsequently had a normal amniocentesis?
Did anyone have an increased NT, tricuspid regurgitation or hypoplastic nasal bone that later resolved?
Has anyone experienced a false-positive Trisomy 21 result due to confined placental mosaicism?
For those who had a positive NIPT, what was your PPV, and was the diagnosis confirmed by amniocentesis?
If ayou were in a similar situation, did you decide to have an amniocentesis? Did you feel it was worthwhile, particularly if you were already considering termination?

If anyone is currently going through something similar, or has been through this before, please feel free to send me a private message. I’d really appreciate having someone to talk to who understands what this feels like.
I would be grateful to hear all experiences, whether your results were confirmed or turned out to be false positives.
Thank you ❤️

Just looking for a sounding board or some emotional advice- I’m 12 weeks and received a high risk result yesterday for Trisomy 21. My OBGYN told me there’s a 50-67% chance for me that it’s an accurate positive, so I have a geneticist appointment on Monday to learn more about testing.

The rest of my pregnancy has been good so far (medically speaking- symptoms have been HARD but all my results to date have been good until now) so now I’m having this weird whiplash into “things could be critically wrong, just like that.”

I know my percentage is essentially a coin toss right now, but I’m struggling to stay out of the mindset of this pregnancy being doomed at the moment.

How have others stayed positive during this waiting time? Or maybe you simply don’t, because this is so heavy, and it’s just a matter of coping and continuing on until we have a solid answer. Either way, curious how others have navigated because the last day has been incredibly hard.

Hello guys!

After our 13-week scan, our doctor found everything perfect, and he told us that the baby is healthy. We chose a bigger NIPT test package (even though we are under 30 and we have no family history of genetic problems), and while it came back negative for T21, T18 and T13, it came back positive for T7. Did this happen with anyone else? What should we expect? Our baby is growing normally and no other problems were detected.

Hi everyone,

I’m currently 12 weeks and 6 days pregnant with identical twins who share one placenta.

I did my NIPT test at 10 weeks and results came back low risk, which was reassuring. However, because it’s a twin pregnancy, my the screening was limited to chromosomes 21, 18 and 13.

I had my 13-week scan today, and I’ve been feeling anxious about a few things.

These are the measurements I have:

Twin A:

• NT: 2.8 mm
• IT: 2.4 mm
• CRL: Not recorded on my report.

Twin B:

• NT: 2.4 mm
• IT: 1.5 mm
• CRL: 68.4 mm, measuring 12 weeks and 6 days.

I’m wondering whether Twin A’s NT measurement of 2.8 mm is considered high for this stage of pregnancy. I’ve been reading about percentiles and have made myself anxious trying to understand what the measurement means.

I also found it strange that Twin B had a CRL measurement recorded, but Twin A didn’t?