r/NIPT

I received the results of my NIPT earlier and it stated the “sex chromosome result” was increased risk/abnormal. My OB called me a short time later and told me that our baby has Turner syndrome and she will put an urgent referral to the geneticist so we can have our scan early and discuss the results.

I am very confused. When I asked her what to expect with this pregnancy, she said a full term, vaginal delivery just like with my other children. She did discuss some of the potential effects on our little girl, for example infertility, short stature, but made it sound like she could lead a very healthy and normal life. The research I have done suggests that I have a very small chance of a healthy, full term pregnancy and in fact leads me to believe there is an incredibly high chance of miscarriage.

My research also suggests that the true positive rate for this test is only 26% of the positives it results to. I am advanced maternal age (almost 37) which I think gives me some hope that this is all a misunderstanding.

Where do I go from here? Does anyone have any hope? How did things turn out for you if you’ve had the same result?

I’m someone who typically has a lot of anxiety about “what ifs”, but I’ve found that the more information I can learn about something to help myself prepare helps me a lot. I searched online but couldn’t really find the detailed breakdown of the amniocentesis process that I was looking for. Now that I’m on the other side of the procedure with my results, I’m sharing my full experience with the hope that this breakdown provides the clarity and comfort I was searching for during my own spiral.

Timeline: March 20th - Abnormal Finding at 20 Week Anatomy Scan. March 23rd - Genetic Counselor called with a referral from my OB to set up an appointment. March 26th - Telehealth Appointment with Genetic Counselor, this lasted roughly an hour and a half, I scheduled my amniocentesis at the end of this appointment. March 30th - Date of Amniocentesis. April 7th - Results.

I wasn't given any special instructions for the morning of, no fasting required. We arrived at the MFM office about 10 minutes early. After a quick check in and a blood pressure reading my husband and I were called back to the exam room fairly quickly. I was allowed one guest, my husband stayed with me the entire time.

The sonographer was the first person I spoke to and she started with a standard ultrasound that took about 10 minutes. She was fairly quiet during the scan, which seems to be the norm. Once I cleaned off the gel and adjusted my dress, she handed me 3 forms: The amniocentesis risk acknowledgement, a consent form for the blood draw, and a post-procedure sheet to keep. After signing she left the room and I had about a 15 minute wait before the genetic counselor came in.

The genetic counselor checked in to see if we had any final questions and confirmed which level of testing we wanted. Since my NIPT results had already come back low risk, we decided to skip the FISH test. It didn't feel like it would give us any new definitive information, especially since we were already committed to the longer wait for the microarray anyway. She stayed and talked with us until the OB, the sonographer, and a student entered the room.

They started everything right away and I was laid completely flat, more so than you are for a typical ultrasound. While the sonographer located the baby with the ultrasound, the OB used finger to poke around in various places on my stomach. He talked me through every step which really helped to put me at ease. After applying betadine to my stomach, he inserted a 3.5in 22g collection needle about 2 inches left of my bellybutton (baby is breech, I have an anterior placenta, not sure if that impacts anything). The needle initially feels like any standard shot, and then for me it felt like a very short but intense cramp as it went into my uterus. Other than the 2 entries I could not actually feel the needle inside of me and did not experience any other pain. I watched the ultrasound screen the entire time, the needle appeared as a bright line and came nowhere near the baby. The OB attached a syringe, collected a vial of pale yellow, slightly cloudy fluid, and removed the needle. This took less than two minutes. After one final heartbeat check of the baby and a small bandaid, the OB reminded me the results would take about two weeks, made sure I was feeling fine, and left so I could clean up. Though they offered me a few minutes to “get my bearings”, I felt completely fine and went straight to the phlebotomist for a quick AFP blood draw.

After the appointment, I felt more emotionally drained than anything else. My husband and I picked up dinner so I wouldn't have to cook, and I took a 2 hour nap almost as soon as we got home. That evening I had some mild, intermittent cramping but nothing concerning. I didn’t experience any fluid leakage, bleeding, or intense pain. By the next day I felt completely normal and was able to make it to my fetal echo without any issues. I did have some mild bruising around the collection site, slightly larger than the size of a quarter. which lasted for a couple of weeks.

The results actually came back much quicker than I anticipated. I was out running errands when the genetic counselor called so I missed it, but she left a voicemail saying she had “good news” and didn't provide specific details. When I called her back an hour later she confirmed that the microarray was completely normal, a good sign that the findings from our anatomy scan were a standalone issue and not part of a larger genetic condition.

Hi everyone,

I’m currently 12w5d and feeling quite overwhelmed trying to decide between CVS and amnio after a high risk NIPT result for Trisomy 21.

I’m 37 years old. My NIPT came back high risk for T21 with a fetal fraction of 12%. From what I understand, my PPV is estimated to be fairly high because of my age and fetal fraction.

I’ve also had my NT scan and the measurement was 2.5mm at 12w5d. From what I’ve been told/read, this seems borderline rather than clearly enlarged, and otherwise the scan has not shown any obvious major abnormalities so far.

I also have a posterior placenta, which I’ve heard can sometimes make CVS more technically difficult depending on positioning.

One of the hardest parts of this decision is that if diagnostic testing confirms T21, we would choose to TFMR. Because of that, I feel a huge pressure to make the “right” decision regarding testing and certainty.

I’m struggling with whether to proceed with CVS soon, or wait a few more weeks for an amnio. Part of me wants answers as quickly as possible, but part of me is anxious about confined placental mosaicism (I know very very rare) and wonders if amnio would give more certainty straight away.

I know the results will more than likely be positive for T21 but I lean toward waiting for the amnio for a definitive answer before making any major decisions— but the waiting feels very difficult.

I would really appreciate hearing from anyone who:
- had a high risk T21 NIPT with a relatively normal NT
- had a posterior placenta and experience with CVS
- chose CVS and was happy with that decision
- waited for amnio instead
- had experience with confined placental mosaicism
- had similar measurements/results and can share outcomes

I’d really value hearing real experiences while I process everything.

Thank you.

Hello Everyone,

Just wanted to post here if anybody is going through the same situation like we did!

On April 16th - 13th week of pregnancy I got back my NIPT result which stated that the baby has some sex chromosome aneuplodies. It stated that the X chromosomes were lower in number than usual. We also got a Z score of -9.62, which was very high as the threshold was -3. It stated that the baby may have mosacism or Turners.The same day we went and spoke to the OBGYN and she had absolutely no context and told us that there are high chances that there is something wrong as it's flagged high.

Our hearts sank..this is our first pregnancy and we have been dreaming about this since the beginning of this journey.

Somehow my instinct told me that I can't trust the institute or the doctor and my baby is absolutely fine. We earlier had our NT scan and there was nothing abnormal sighted.

Next week we got another NIPT done from a different company, although from the research we knew it's of not much value, and amnio is the only way out. I was in my 14th week. In parallel we scheduled an amnio for the 16th week.

By the end of 14th week, we got the result of the second NIPT and it said low risk for everything, and this was genome wide NIPT, claims to be better than the usual one. This gave us a ray of hope.

On the 16th week, got my amnio done, it didn't hurt much except for the cramping when the needle really goes into the uterus. As the baby was moving a lot they had to insert the needle twice and they got the fluid. The entire procedure from the scan till the time I was out took 1 hour. I just had some numbness at the place they pricked the needle, nothing apart from that.

We had to get two results post amnio - rapid NGS and Karyotype. The doctor recommended that microarray isnt required so we dint get that done and plus it wasn't insurance covered. The rapid NGS was supposed to come in 48hours, but even after 3 days we dint get any response and finally they told us due to noise in the fluid they couldn't conclude anything.

Some dreadful 10 days after we finally on a Sunday got the first NGS result, because they had to culture the cells even for NGS. And on a Monday we got Karyotype..and our baby is completely healthy :)

From April 16th to May 18th..I have come to this sub and read so many stories and re-read them again and again. Glad to have this community and this place has really given me some mental peace and hope.

Hope this post helps the parents going through limbo and anxiety like we did! Feel free to reach in case of any doubts!

I did the Natera Nipt test at 9 weeks and it came back on 5/5 with atypical findings on t13, I had a normal NT scanon 5/18 measuring 1.2mm. The doctor said this is a good sign and hopefully it means confined placental mosaicism. I have an amnio scheduled for 6/18. I spoke to the genetic counselor this morning and she did not seem as positive about atypical results on T13. Just looking for any support or advice or similar stories. It's hard to wait another 4 weeks to find out.

Hi, my wife and I (both 40) just got the results for the first trimester combined screening and it shows High Risk (1:20) for Down Syndrome. In week 10, we had done a NIPT and it had shown low risk (less than 1:10000) for T21. We don't know how to feel about it. The doctor told us to trust the NIPT more, but we can't avoid being worried. Is there any similar experience? How did it end?

We're also confused about the screening values. I thought that 1:20 means a 5% probability of T21, but at the same time the doctor says that the rate for False Positives in High Risk diagnosis is below 15%?? Do you know how these values work?

Thank you all in advance

Hi all, I am looking to understand how many people have a clear microarray and clear anatomy and fetal echo and still went on to have baby with a syndrome or heart problem. Did you wish you did more testing?

For context:
12 week elevated Isolated NT of 5MM
16 Weeks resolved NF, amnio done, normal16w anatomy,
18 week normal microarray results

Currently 19w; 20 week anatomy scan and 22 week fetal echo next. Just getting nervous again that all the clear results could still lead to an unexpected outcome.

If anyone has experienced this please let me know, i just want to prepare.

I just received my NIPT results yesterday and it’s saying I’m high risk for Trisomy 18. After 4 years we finally have a pregnancy that has reached 12 weeks and we’re now experiencing another nightmare.

I’ve had an ectopic pregnancy with emergency surgery and removal of my fallopian tube, several miscarriages and now this. We have no living children and we are absolutely devastated by this screening.

Looking for any reassurance that this could be a false positive or anything that could give me hope. We have had normal ultrasounds with heart rate detected at 6, 8 and 11 weeks and baby measuring perfect every time.

Here’s some info!!
Age currently: 31
Age at delivery: 32
Fetal Fraction: 5.6%
Risk: 91/100

Doctor didn’t sound too reassuring when he called to discuss results with me, which has me really losing hope.

I’m currently 14 weeks, I did my first Natera test at 11 weeks which came out with 1.3% fetal fraction and didn’t give any results, I re did it at 13 weeks and just received my results with 1.9% fetal fraction so that still didn’t generate any results. I am not sure why that is happening not sure if anyone else faced something similar. I am currently age 30. I had my NT ultrasound scan today and they said abnormal cranium, face, and heart and suspected fetal triplody … the baby heart rate is 154 bpm but crl is measuring at 5.1 cm which is showing 12weeks 1 day . I’m not sure what is happening , they also listed bunch of impression like IUGR, abnormal fetal posture, head body disproportion , suspected carniofacial and cardiac anomaly.. this all sounds bit scary so I’m not sure if anyone has faced something similar or if this is something I should be worrying about. They did recommend further testing for high risk so I should be having that appointment next week to learn more about it.

Has anyone age 40 + had a positive diagnosis for Trisomy 21 and went on after to have a healthy baby. We had to medically terminate for T21 and HRHS. I am 42 years old and trying to figure out to try again or just be grateful for the 4 year old we have. We fully intended to keep our daughter regardless of the T21 but the heart diagnosis with the T21 complicated everything and made her pretty much incompatible with life. Guess just wondering anyone at this age if they went on to have a normal child. Thanks

Recently went through IVF and implanted an euploid embryo. NIPT testing done at 11-12 weeks is showing positive for trisomy 21. Testing done by Labcorp -MaterniT. Now just waiting to speak with OB and will likely need to meet with MFM as well. Very anxious as expected. PPV is 95% and FF is 13%.

Hi, we got NIPT result on 13 May with high risk for trisomy 13.

Some background information: I just turned 35 and my partner is 33 we have a healthy 2.5 years old daughter. We've been to 3 ultrasounds and the last (first trimester screening) at week 13+3 was perfectly normal. I read so many false positve stories and hope for the same outcome for us but freaking out about the insecurity! We have appointment at the 21st of May at the hospital with specialists.

I’m looking for support and maybe experiences from anyone who has been through something similar or amnio recently.

My first NIPT was done at 11w5d and came back as “inadequate.” My repeat NIPT was done at 13w2d and came back as failed quality control.

I had asked my doctor about doing an NT scan around 12 weeks, but I was told that NIPT is more accurate than NT, so an NT scan wasn’t needed. Now I’m 14w6d with no clear information, and I’m feeling extremely frustrated and anxious.

I met with a genetic counselor, and they recommended amniocentesis, but they didn’t really have an explanation for why my NIPT failed twice. I’m not overweight, I’m not on blood thinners, and I don’t have any of the common risk factors I keep reading about.

I’m honestly terrified of amnio because of the miscarriage risk, but I also feel like I don’t know what other option I have at this point. I haven’t been able to stop crying from the anxiety. My partner and I also feel very strongly that we would not want to continue the pregnancy if the baby had a serious condition that would cause suffering.

On top of all of this, I found out my father has blood cancer just one day before I found out I was pregnant. So this entire pregnancy has been filled with fear, anger, and anxiety instead of joy. I feel like I can’t stop worrying or thinking about the worst possible outcomes.

Has anyone else had two failed/no-result NIPTs and gone on to have a healthy baby? Did you choose amnio, quad screen/AFP4, or wait for the anatomy scan? I would really appreciate any experiences or advice.

I’m 21 weeks pregnant and my anomaly scan showed several severe abnormalities. The specialist suspects type 2 thanatophoric dysplasia.
Findings included:
– cloverleaf skull
– very small chest
– very short long bones
– normal spine and heart
I had an amniocentesis today and they’ve sent off a skeletal dysplasia panel and exome sequencing. I’m now waiting for results.
I’m trying to understand what to expect — emotionally, medically, and practically — and would really appreciate hearing from anyone who has been through something similar, whether you continued the pregnancy or chose TFMR.

Just to add the specialist has also mentioned All organs function well and developed. No bowing or fractures . Good mineralisation but the long and short bones are significantly small for this gestation. We are mentally low after hearing the doctor say baby will not survive as the chest is too small for the lungs to develop or function. And even if they baby did survive which it won’t the baby would be severely handicapped. Also the nipt tests all came back as low chance but they suggest it is lethal form of dysplasia even if the amniocentesis come back normal for thanatophoric dysplasia

I’ve been deep diving this thread and it’s helped keep me calm, but i haven’t quite seen a situation like mine yet, which i’m sure there are but my family doctor hasn’t seen it yet.

I’m 34, my efts came back 1/77 for trisomy 18, HCG and papp-a are low.

I had to two ultrasounds at week 13 then 14 because they couldn’t get a clear image (on both) due to the baby’s position (wasn’t moving) and i have a posterior uterus.

There was a normal NT, heart rate, nasal bone, but no stomach is seen yet and the baby is now 2 weeks smaller than gestational age. Could the age have been calculated wrong initially? My periods are irregular so the age is based on the ultrasounds which I’m told are pretty accurate.

The initial ultrasounds up to week 9 were always transvaginal because they couldn’t get a clear image on my stomach. They were normal except week 9 baby measured 4 days smaller.

My nipt also just came back with “no result”. I was really hoping at least something would come back with reassuring news, this was the last situation we ever expected to find ourselves in. My doctor immediately dived into the option of abortion if the amnio confirms it. When I found so many false positive posts it gave me hope, but it’s hard to stay optimistic when all my tests have been off/unclear.

We’re waiting to meet with our OB and I’m hoping to do more blood work/US before having to do the amnio. So nervous and don’t know what to do with myself. Has anyone experienced similar?

just looking for advice or hopeful stories or if this has happened to anyone else. At 12 weeks i had my nipt screening, when i got the results back it came back positive for trisomy 13 with a PPV of 11%. my dr advised me this means my baby is low risk. a couple days later we had our appointment with MFM and they were so negative and were not reassuring at all. from everything I’ve read 11% means low risk and has an 89% chance it’s a false positive but they were acting like the baby would for sure have it. we did an ultrasound granted at only 13 weeks 4 days but everything looked great the dr said there were no abnormalities but also told me it could just be because baby is still little. I’m so scared and constantly praying my baby is healthy.

My husband and I recently received NIPT results that were positive for Trisomy 21. We have been up and down emotionally about this, but have come to a place of acceptance; we believe this experience will be both beautiful and very difficult.

We know people who have DS in real life and love them very much; we have no problem loving/valuing/accepting a child with DS. Since receiving the news, we have also done tremendous amounts of reading and research. This is where the information can get frustrating: on the one hand there are the online influencers who present an overly rosy picture of the experience, and on the other are online posts from people who resent/regret their DS child or sibling. It’s been hard to really see a truthful and balanced picture.

Additionally so many of the depictions of the experience that we’ve seen are of 1) affluent parents or 2) young parents. We are in our 40s and 50s. While we are both healthy and fit now, we cannot assume our health and stamina will remain this good in the years to come. One or both of us will likely pass on when the child is in her 30s… is it cruel to proceed with this pregnancy knowing that? We don’t really have loved ones that would be able to care for the child, and those who might are around our age so would not be around or fit for this task.

Additionally we are also not well off. Not technically poor, but we work very very hard and are doing just OK, though neither of us really have much retirement savings. If we had a special needs child and one of us had to leave our jobs or reduce our work hours, we would definitely be in financial trouble.

Given these circumstances, I don’t know if it would be kind or fair to our baby to proceed with this pregnancy. I would love to hear the perspective of others who have more insight into raising a child with DS, or who may also be in our specific circumstances with respect to being older parents or financially precarious.

Thank you!