r/NIPT

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!

**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. 💔🤍

NIPT result >95% risk for T21, NT 4.4, 1:2 t21 risk on combined screen. 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.

31 years old female. First pregnancy. 19.4 weeks pregnant right now.
I just wanted to make this post for every mama who’s going through uncertainty and a tough time right now. When I got high-risk results during my screenings, the only thing that kept me going was reading the posts on Reddit and several false positive stories. It just made me feel like I’m not alone.

During my first trimester screening, I got an NT scan and everything was normal. A nasal bone was seen and my NT level was 1.7 mm. I’m from India and I was about 14 weeks. Here, it isn’t very common to suggest NIPT unless there’s a reason. I was asked to get a double marker test and I gave my blood for the same. However, the diagnostic centre called me the same day and said that I need to do a triple marker since I’m past the gestational age for a double marker. I didn’t know much about these tests and said okay. I got my results the same day and it showed a high-risk for Trisomy 18. I panicked and cried the whole night.

I changed my doctor. After a couple of tough days, I booked an appointment with my gynaecologist and she said triple markers are not very reliable and asked me to go for the NIPT. After another 10-12 days of uncertainty and googling like crazy, I got my results and it wasn’t what I expected. Although I was cleared of Trisomy 18, 21 and 13, I got result that said, “High-risk for sex chromosome aneuploidies.” I panicked again and cried. I researched a lot and found out that NIPT isn’t very accurate for sex chromosomes, but I still felt very uncertain and couldn’t enjoy my pregnancy the way I wanted to.

I booked an appointment with my gynecologist who suggested me to consult a fetal medicine specialist because she was not sure what to expect from this pregnancy. She immediately booked me an amniocentesis for the next day. I wanted to go for it without any second thoughts because I wanted to be able to enjoy my pregnancy if everything was normal. I started feeling a bit positive with my husband’s support.

After another 5 days of torture, I received my normal FISH results. I was ecstatic. It said- Chromosome 13, 18, 21 - No aneuploidy detected
Sex Chromosome - No aneuploidy detected
After almost a month, I began to feel normal.

After another 20 days, I received my Complete Microarray (CMA) report. All normal again.
The CMA states:
No clinically significant aneuploidies detected
No clinically significant copy-number variations (CNVs) detected
No CNV detected on chromosome 18 or the sex chromosomes
46-chromosome complement detected
No sex-chromosomal abnormality
Maternal-cell contamination negative

I am breathing normally today and waiting to get an anomaly scan at 22 weeks. Please have hope and o pray for everyone who has had abnormal screening results to just go for amniocentesis. NIPT and double marker/triple markers are not diagnostic tests. Only an amniocentesis can tell you anything for sure. Good luck! Sorry for the lengthy post, but please get in touch with me if you have any doubts.

Hi everyone,
I’m currently 13 weeks pregnant and I’m looking for experiences from anyone who also had a very high free β-hCG in the first-trimester screening.
Mine came back at 7.05 MoM. My PAPP-A was 2.241 MoM. My 13-week ultrasound looked completely normal — everything they checked was fine.
I’m having a placental biopsy next week to hopefully find out more, but I’m honestly struggling a lot with the waiting and I feel like I’m going crazy thinking about all the possibilities.
If you’ve had similarly high free β-hCG, especially around 7 MoM or higher, I would really appreciate hearing about your experience and what happened in your case. Any advice or reassurance would mean a lot right now.
Thank you ❤️

Buna tuturor,
In cat timp v-au venit rezultatele de la Veracity facut la Synevo? Astept de 9 zile si mi se pare ca am imbatranit 10 ani.
Multumesc!