Full disclosure: this is my personal story and not intended to be anecdotal evidence. I still believe that the NIPT is statistically accurate if done correctly, and that I am an anomaly. I just wanted somewhere to share my story to see if anyone else has experienced this as well.

TW: pregnancy loss

In June of 2023, my husband and I got pregnant with our first. Sadly, that pregnancy ended in a missed miscarriage and we had a subsequent D&C in late August 2023.

That December, we got pregnant with our rainbow baby. Being the impatient person that I am, I decided to get a Sneak Peek, which came back as female. We didn’t really have a strong preference, just wanted a health baby…but I wanted to know ASAP because one of the things I grieved with my first is that I’ll never know my first baby’s gender. Maybe silly, but it’s how I felt.

A few weeks later, our NIPT (Natera) results came back. All was low risk, but the gender on our test results was male. We were surprised but equally thrilled. However, my gut told me something was off. We were about to go on vacation and didn’t have time for an ultrasound at my OB’s office (they were booked), so we went to a boutique ultrasound place without telling the tech what happened and she told us based on the scan that we were having a girl. A few weeks later, our anatomy scan also showed the same thing.

At this point, my OB was concerned about a sex differentiation disorder where our baby’s internal reproductive organs didn’t match externally. While there were certainly emotions to process, it was never a question for us personally that as long as our baby would be healthy nothing would change. But we were advised that there are certain SDD’s that can benefit from at-birth intervention, so we went ahead and scheduled an amnio to gather all of the information we could.

In the meantime, I pushed for an additional NIPT from a different company (QNatal) based on my gut feelings. That NIPT came back female with low risk for all other tested factors. My OB and genetic counselors still wanted me to go through with the amnio because different companies have different levels of testing and the amnio test we had scheduled would be the most comprehensive test available.

Long story short, that test also came back as negative for everything tested for with a genetically typical female baby.

We now have an absolutely perfect (all children are perfect and she would have been no matter what) little girl, who is genetically typical. They had given us the option to have my placenta sent off for testing but I declined at the time because I just wanted to put all of that unnecessary stress behind us. But now I’m wondering if I’m alone in this experience.

TL;DR - sneak peak was female, Natera NIPT was male, ultrasounds all female, QNatal female, Variantyx biologically typical female

Hi everyone,

I’m currently 20 weeks pregnant and our anatomy scan showed an isolated EIF (echogenic intracardiac focus) in the left ventricle. Other than that, the scan was normal.

We had low-risk prenatal screening earlier in pregnancy, and I’m now considering additional testing because I’m feeling quite anxious about the possibility of Down syndrome.

Has anyone here had:

• An isolated EIF in the left ventricle
• A low-risk EFTs /NIPT result (or other low-risk screening)
• No other soft markers or structural abnormalities

But their baby was still born with Down syndrome (Trisomy 21)?

I’d also appreciate hearing from anyone in Ontario, Canada. If you had an isolated EIF and wanted an amniocentesis mainly for reassurance, was it difficult to get a referral or recommendation from your doctor, genetic counsellor, or MFM specialist?

Thank you. I’m feeling quite anxious and would really appreciate hearing about others’ experiences.

​Hi everyone,

​I’m looking for some advice, shared experiences, or just a bit of reassurance regarding my 2-month-old baby.

​Recently, we noticed that when our baby cries, the lower lip on one side doesn't pull down, resulting in an asymmetrical facial expression. However, when the baby is resting or sleeping, the face is perfectly symmetrical, and both eyes close tightly without any issues when crying. Based on this, it seems to align perfectly with Asymmetric Crying Facies (ACF) caused by congenital missing/hypoplasia of the depressor anguli oris muscle, rather than a facial nerve palsy.

​In addition to this, our baby was also diagnosed with Hydronephrosis on ultrasound and is currently on daily prophylactic antibiotics to prevent UTIs.

​Because both the facial muscles and the kidneys originate from the mesoderm during embryonic development, I've been reading a lot about potential genetic links. My biggest concern right now is the possibility of 22q11.2 microdeletion syndrome (like Cayler cardiofacial syndrome) or other genetic anomalies since these two structural issues are presenting together.

​We are planning to discuss genetic testing (like a chromosomal microarray) with our pediatrician soon, but as a parent, the waiting and the "what ifs" are extremely stressful.

​My questions for this community:

​Has anyone here had a child with both ACF and Hydronephrosis (or other kidney/urinary issues)?

​If your child had ACF (isolated or with other anomalies), did you pursue genetic testing? What were the results?

​For those whose kids have ACF, how are they doing now as they grow up?

Was informed yesterday that the NT kept growing and is now 0.44cm, I'm at 11 weeks only and we were just starting to think how to announce this to friends, family, and work in a couple of weeks. My REI doc said I need to see a high risk doc, who was quickly consulted and said the fetus could be susceptible to heart issues or Noonan's syndrome ...list and worries go on. Had IVF, transfered a euploid male embryo. NIPT blood work done last week, results pending. NT scan next week. 4 Retrievals, 3 years of IVF...then this.

Do you even announce your pregnancy at this point when you hit end of T1? testing can go on for so long, how do you conceal this?

I'm not really showing yet but I can't hide this for another month, which is what I'm estimating how long diagnostic tests would take, if I can even get in to see the high risk doc soon.

Thank you in advance

So I’m 14 weeks pregnant and last week my nipt result came back Abnormal NIPT on sex chromosome suggestive of possible mosiacism I talk to a genetic counselor an it’s a lot of different possibilities also maybe something from my placenta that it picked up on or my dna and baby may just be fine but can’t say right now until driver testing is done I got my blood drawn to do chromosomes in my body to see if it’s something in my dna I’m jus scared because last year I lost my baby at 17 week the cause is still unknown but I have to do ultrasound every two weeks until I’m 24 weeks to monitor baby and cervix but has anyone experienced this and it turned out to be Normal and the pregnancy and baby was fine just need some word of advice anyone

I just received my NIPT results from Quest. This is my first time doing the test through Quest - with my first two kids, my OB’s office used another lab. I am 35 and was 12+2 at the time of the blood draw. I chose to not learn the gender of my baby. Everything looks normal in my results except for this:

“The X chromosome data for this sample is indeterminate with regards to the presence of a fetal sex chromosome abnormality due to a decrease in X chromosome material. Follow-up genetic counseling with discussion of follow-up screening and/or diagnostic testing is recommended. Irreversible pregnancy management decisions should not be based solely on these results.”

I am really trying not to spiral, but I feel incredibly confused and scared right now. Of course it’s a holiday weekend so who knows when I will hear back from my OB’s office. I’m not sure what I’m looking for right now, but I’m just so scared. I found this subreddit and just wanted to post in case anyone has had something similar happen. The results don’t mention Turner Syndrome at all, but as I’m googling and reading different posts here, I guess that could be a possible outcome.

Has any one hear that their NIPT test was inconclusive and want repeat sample. My first sample was give at 11W 1D. This happed via Natera. Any one experienced similar thing?

Hi everyone,

I’m from Cambridge, Ontario, and had my 19-week anatomy scan today. What has me worried is that my family doctor’s office called only about 3 hours after the scan to schedule a discussion about the ultrasound results for next week.

During the scan, the sonographer was very quiet and did not provide any comments about how things looked. We also asked about the baby’s gender, but she told us to check with my midwife instead. What confused me is that my requisition specifically stated that the gender could be disclosed if the parents requested it.

I know sonographers are often not allowed to interpret results, but most of my friends were either told the gender directly or given some indication of how the scan went, so this experience felt very different and has made me anxious.

Has anyone else had:

• A doctor’s office contact them within a few hours of the anatomy scan?
• A sonographer refuse to disclose the gender even when it was requested?
• A follow-up appointment scheduled after the anatomy scan that turned out to be something routine rather than a major concern?

I’m trying not to jump to conclusions while waiting for my appointment and would appreciate hearing about similar experiences.

As above - went for an NT scan at 11w5d thinking it would be fun and reassuring to see baby. Wrong.

NT came back at 3.6mm which devastated me. My gynae was so solemn and recommended me to skip NIPT and go straight for amnio.

I decided to take the NIPT first and after 5 gruelling days, everything came back low-risk. Thank god.

Then, had another NT scan 9 days later and measured 2.8mm (CRL measured 12w5d). NT is reduced but still elevated (97th percentile), and I was given another round of counselling by the genetic counsellor.

Basically she says that while the clear NIPT and NT decreasing is good, NIPT only tests for a few common abnormalities and that she cannot ignore the initial higher NT of 3.6mm.

Therefore, even with the latest 2.8mm NT, she still recommends an amnio. She has also booked me in for a 15w cardiac scan.

Kind of feeling in limbo now and would appreciate any words of advice. Or if anyone was in a similar situation, what was your decision and outcome?

I’m so thankful that NIPT is clear, but my genetic counsellor’s words has made it very very difficult to enjoy my pregnancy.

Our panorama results came back as increased risk for trisomy x, but my fetal fraction was only 2.2%. When I spoke to Natera, they told me they recently were able to get results from lower fetal fraction in the blood. Any opinions on the chances this is a false positive? We meet with MFM next week.

I am 21 weeks pregnant, I have a healthy toddler and I had an early miscarriage prior to him. So far this pregnancy had been rough during the first trimester but as I was feeling better in my second trimester I got unfortunate news during our 20 week anatomy scan. My NIPT at 10ish weeks was negative for the big ones- T13, T18, T21…I don’t believe it checked for any micro deletions. But during my scan it was found my little boy has a bilateral cleft lip and palate, absent CSP, possible VSD(unable to clearly see) and a single umbilical artery. His growth is a bit ahead with a strong heartbeat and moves around like his older brother did.

I understand all these on their own are manageable with surgery and time, but the biggest concern is there a genetic component at play with further serious complications.

I am awaiting results from my amniocentesis and I have a fetal MRI coming up in a few days to check brain development.

I am a wreck and have felt so lost and out of it the last few weeks while playing this waiting game. I have read about the worse case scenarios and then I’ve come across scenarios where I know he may have some complications and minor delays but overall a healthy life.

I just want to hear other moms’ stories because I feel everyone says these things are rare but hardly discussed and now I feel so alone in this situation.

I am devastated. I never thought I would write something like this, and here I am. On yesterday’s scan (12 weeks), they found nuchal translucency of 4mm and hydrops fetalis. The doctor was very sad to deliver me the news, she didn’t give me hope at all. She told me to wait for my nifty results, but… she wasn’t hopeful. She advised me to think about terminating the pregnancy. All day I am crying. My jaw hurts, my head hurts, my eyes hurt. I don’t think I will recover from this. I don’t think I will want to ever get pregnant again. I just want my baby to be fine. I want it to live.

For the record, everything else looked fine. It has a nasal bone, heart beat, and everything looked fine. Except NT and hydrops fetalis, which is a very dangerous condition, as from my internet research.

Can anyone please share something, if they know? Should I have hope?

Hi, I would love to hear your insights, feelings and experience on this one.

I’m 26 weeks pregnant with baby number two. We recently found out baby has a heart defect that may be asymptomatic or may need surgery (we will know more after birth). But the cause of the defect is unknown at this time and genetic testing is strongly encouraged if not needed to figure out more. We are now trying to decide if we should do amnio or wait until birth to do the testing. Pros and cons of each option below.

Amnio:
Pro - get results faster. Questions and unknowns answered. If certain things show up as positive on amnio we can get things ready and lined up for baby before birth (ie medications, therapies, doctors, etc)

Cons - I already have a high risk pregnancy as is, as well as a blood clotting disorder. I know there is a risk, though low, of preterm labor with amnio. I am concerned that the *potential* preterm labor mixed with the heart defect could end in a bad result for baby. Also my mom had amnio done while pregnant with me and started having preterm labor. She was on bedrest starting at 4 months pregnant until I came out. Does that increase my risk of complications?

Waiting until birth:
Pro - no risk to me or baby, just a blood test
Cons - delayed answers and continuing with more unknown. We will not have things the baby may need in order or prepped in time (ie medication, therapies, etc). Could take up to 2 weeks for answers and then more time getting what is needed set up.

But also, everything could come back normal with no genetic abnormalities 🤷‍♀️ So if anyone has any similar experiences or thoughts I would love to hear it all. Of course I will be talking more with my medical team, but curious on others takes.

TLDR - baby needs genetic testing, trying to decide if I should do amnio or wait until baby is born

Was informed today that the NT kept growing and is now 0.44cm. My REI doc said I need to see a high risk doc, who was quickly consulted and said the fetus could be susceptible to heart issue sor Noonan's syndrome ...list and worries go on. Had IVF, transfered a euploid male embryo. NIPT blood work done last week, results pending. NT scan next week.

Would love some personal experiences from others who have had thick NT to help us get through this. We are devastated. 4 Retrievals, 3 years of IVF...then this.

Question
Do you even announce your pregnancy at this point when you hit end of T1? testing can go on for so long, how do you conceal this?

Hi everyone,

I promised myself that if I made it through this journey, I would come back to Reddit and share my story in the hope that it might help someone else.

Reddit gave me hope during some of the darkest days of my life. Reading other people's experiences helped me keep going, and I hope my story can do the same for someone else.

This is my first pregnancy, and I'm expecting a baby boy.

Because of early pregnancy bleeding (which started around 6 weeks and continued until about 9 weeks), I was already extremely anxious. Then I received my NIPT results, and they came back high risk for 22q11.2 deletion syndrome.

My Timeline

May 2, 2026

• Blood sample collected for NIPT.

May 5, 2026

• Natera received my sample.

May 11, 2026

• I received my results: High Risk for 22q11.2 Deletion Syndrome.
• Fetal fraction: 6.7%
• Gestational age at blood draw: 11 weeks 4 days
• 38 years old.

My OB referred me to Maternal-Fetal Medicine (MFM). I asked about having a CVS, but they preferred to wait until 16 weeks and perform an amniocentesis instead to get the most definitive answer.

June 2, 2026 (16 weeks)

I met with the genetic counselor. She was very guarded and told me that, based on her experience, it was basically a 50/50 chance.

This surprised me because I had spent countless hours reading Reddit posts, and many people mentioned that their genetic counselors were reassuring about the possibility of false positives. My counselor's experience was different. She explained that, in her practice, the outcomes had been about half positive and half negative.

By this point, thanks to Reddit, I had already learned a lot about 22q11.2 deletion syndrome and the amniocentesis procedure. I had already decided that I would go through with the amniocentesis regardless of the small risks because I knew I needed a definitive answer.

I was able to have the procedure the same day.

For anyone who is scared of the amniocentesis, my experience was much better than I expected. Honestly, the blood draw hurt more. The procedure itself was very quick. I only felt some pressure, and before I knew it, it was over.

Results

June 3, 2026

• Targeted FISH for 22q11.2: Negative

June 9, 2026

• Karyotype: Negative

Then came the hardest part—the waiting.

After the FISH results, they explained that they needed to culture the cells before completing the microarray and estimated it would take another one to two weeks.

I waited.

No results.

After two weeks, I called. They said it was still in process.

I waited some more.

At three weeks, I called again. Still no results. They told me it could be another week or week and a half.

The waiting was emotionally exhausting.

June 30, 2026

I had a follow-up ultrasound to check on the baby and look for any soft markers while I was still waiting for the microarray.

During the ultrasound, they found a suspected small ventricular septal defect (VSD).

At that moment, I thought, "Of course... just one more thing to worry about."

I still hadn't received my microarray results.

July 2nd, 2026

After waiting 4 weeks and 2 days...

THE MICROARRAY CAME BACK NEGATIVE.

IT WAS A FALSE POSITIVE.

All glory to the Lord.

I cannot describe the relief I felt.

Where I Am Now

I am scheduled for a fetal echocardiogram on July 28 to take a closer look at the suspected VSD.

I'm praying that it turns out to be a misdiagnosis or that it is a small defect that closes on its own.

Final Thoughts

I truly want to thank everyone in this community. Your stories, advice, and willingness to share your experiences helped me get through one of the most difficult times of my life.

If you're reading this because you've just received a high-risk NIPT result for 22q11.2 deletion syndrome, I know how terrifying it feels. I know the sleepless nights, the endless Googling, and the anxiety while waiting for answers.

Please remember that NIPT is a screening test, not a diagnostic test. A high-risk result does not mean your baby definitely has 22q11.2 deletion syndrome.

I hope and pray that your outcome is as positive as mine.

Thank you again to everyone in this community, and if anyone has questions or simply needs someone to talk to, please don't hesitate to reach out. ❤️

Hello all!

Currently 12w1d after doing IVF with a PGT-A tested euploid embryo.

Everything good so far, NT went well no concerns. Just got my NIPT and Monosomy X had no result, saying quality of the data was not sufficient.

gender F which I knew from PGT.. everything else was low risk on the NIPT. Fetal fraction 4, which I understand is low.

Should I be concerned with the no result? retest?

I’m currently awaiting the results of a second amnio after being diagnosed with low-grade mosaicism T21. I’m 21 weeks pregnant now. We’re not sure what we’ll do if these confirm the previous results.

I feel it’s getting harder and harder to deal with people. Just anyone. I don’t feel like talking to my closest friends, while simultaneously I’m disappointed when they don’t reach out or respond in a way that feels right. Whenever I do meet or talk with them, I just feel exhausted afterwards.

I struggle to determine what to tell people who are not in my direct inner circle. I don’t like hiding my pregnancy but obviously I don’t feel happy about it at the moment. If someone happily asks about my pregnant belly, I tend to respond in a “yes thanks but…” manner but the levels of details I give are different. Sometimes I say there’s complications. Sometimes I say there’s a genetic abnormality without specifying what. Sometimes I say it’s Down, leaving out the mosaic part. And sometimes I just try to explain, but the situation is so complex that it’s hard.

Obviously, the responses vary from being empathetic and understanding to mentioning how cute and fun children with Down are. It never got directly judgmental for me (yet) but it makes me miserable either way.

I notice I’m avoiding people more and more. It feels more comfortable in my own bubble, but I also feel very alone. It’s very unlike me to close myself off.

How are you dealing with people around you? How much do you tell them? Any tips?

I’m hoping to hear from others for guidance and perspective.

I am 37 my wife is 39. My wife is 13 weeks and our baby was diagnosed with Trisomy 21. We are devastated. I told her we should TFMR but she does not know if she could go through with it. I also told her I will absolutely love the baby with all my heart and told her that I would never have any resentment towards her if we have the baby. I’m not scared of raising a child with a disability, I’m scared of caring for an adult with a disability. We have a healthy 3 year old, and I also do not want to put the burden on him of caring for a disabled sibling when we are gone.

As the father, I feel like I’m looking at the situation in a cold and calculated way. In my head, I want her to move on from this pregnancy so we can start planning for the next one. We have a healthy embryo we could transfer from a round of IVF (this baby with 
Trisomy 21 was conceived naturally).

However, I realize how selfish that is on my end. She will have to deal with the procedure and the physical and emotional toll to a much greater extent than me. 

Regardless what we do, I will support her decision. Im just hoping to hear from both people who decided to TFMR and also people who have children with 
Trisomy 21.

Thanks