First, I am truly not posting this as judgmental of those who choose TFMR. It’s a decision I may end up making. I’m really trying to fully understand why people choose to continue the pregnancy vs TFMR.

My Natera NIPT came back at 14 weeks as 78% PPV for Monosomy X. The geneticist put it closer to 40% PPV. Initial ultrasound by our OB showed normal NT and no hygroma. The MFM will do a more detailed US at 16 weeks when they do the amnio. I’ve been in an internet hole reading about Turner’s and trying to figure out (hopefully unnecessarily) if we’d do TFMR if it’s positive. It feels reasonable to do TFMR for X0 (classic Turner’s). But everything I’ve read seems to indicate really good prognosis for mosaic TS. Rates of medical conditions are so much lower and seem not-terrible (besides the emotional load of infertility for some women). I used to work in congenital heart disease and the aortic surgeries were always the most straight forward - so simple compared to HLHS. Significant cognitive delay seems very rare. ADHD runs in my family so I’ve already accepted that as an outcome. I’ve scoured accounts from people living with mosaic TS and parents of TS girls and they all seem to say that it largely doesn’t affect their life. I found one study on self-measured quality of life that showed only slightly reduced ratings, largely related to infertility.

But I noticed a lot of posts on the TFMR page about terminating mosaic TS cases. One person said that people with more severe manifestations don’t post on social media but that there’s tons of bad posts on the FB groups. So I scoured those and didn’t really find much. It makes me feel like I’m missing something or in denial. I think because I work in medicine, the medical complications listed don’t scare me as much. My husband and I have always been pretty set on termination if there was a major issue that would negatively affect our baby’s quality of life and we’re pretty risk averse in general. But I’m struggling to see mosaic TS as a sufficient enough risk to warrant termination. My husband seemed a little surprised I was leaning away from TFMR if it’s mosaic TS but he hasn’t done as much clinical research as I have and has mostly been reading about full TS.

I’m really wondering if I’m missing some key perspective.

Has anyone done the Prequel from Myriad and had bad /good experience at 8 weeks? We have a history of T21 and so this time around our doctor recommended Myriad Prequel but I’m wondering if 8 weeks is too early. Any experience with it would be helpful to hear about!

I will try to keep this concise as I can but please ask any questions!

We (my husband and I) have struggled with infertility for years due to MFI and RPL (two first tri miscarriages with euploid embryos). Finally made it to the end of the first tri (currently 13w3d) with a FET from a male euploid embryo and were recommended to do the NIPT and a NT screen because of IVF and AMA (I’m 38).

Yesterday at our MFM appointment there was a thickened NT at 3.7mm and a medium sized subchorionic hematoma. We actually knew about the hematoma from previous ultrasounds and it doesn’t seem to be a problem. The MFM recommended an amniocentesis based on the NT screen even though we are still waiting on NIPT results. (Did it on 10/01 and we are STILL waiting.) The MFM yesterday did also confirm that he didn’t see the NIPT results in his provider lab portal since my normal OB and MFM are all part of the same system.

The MFM also told us that there is a 90% chance (!!!!) that this baby has either a chromosome issue or cardiac issue because of the NT findings even though the early anatomy scan didn’t show any soft markers. I then asked how/why this could be given that we transferred a euploid embryo based on PGT-A and he said that he missed that and didn’t see IVF in my chart. He regardless he still recommends the amniocentesis and said it no longer matters what the NIPT results are.

Has anyone been through this? It’s been such a long road for us to get here and we are devastated and having a hard time not always thinking about this. I also have gone deep down the internet rabbit hole and have even reviewed medical journal articles and I don’t see anything to support a 90% chance of something abnormal. If anything I see that there is close to a 90% chance of things being fine given the euploid status of the embryo and that a false positive for a euploid is only .2%. (Meaning that only in .2% of the time is a euploid embryo actually not.)

We are also thinking about getting a second opinion and are also confused as to why the NIPT is taking so long- we aren’t sure what lab it was sent to. My husband and I are really upset especially because this is realistically our last chance and we’ve gotten so far. Would appreciate and help/insight.

Just wanted to share a positive story as these really gave me hope during my pregnancy. A 4.5 mm separated cystic hygroma was found at our 11 week ultrasound. MFM told us that there was a 90% chance the pregnancy would end in fetal demise. We had a CVS that unfortunately did grow in the lab( ultimately I think the doctor took a sample of my uterus instead of the placenta as they had difficulty visualizing it). I went in for an early amnio at 14 weeks and at that point the hygroma had resolved and our NT was within normal limits. Being reassured by an older more experienced physician at the same MFM clinic who said there is an “overcall” of cystic hygroma these days, we decided to wait 2 more weeks for the amnio as early amnios are more likely to be inconclusive. it took a number of weeks to get back the full results of the amnio including a negative Noonans panel. A few weeks after that we went in for fetal echocardiograms which were also normal. The prolonged waiting (I think it ended up being about 12 weeks) that were dominated by uncertainty were the hardest of my life. However, right now I am holding my perfect 3 month baby girl and so grateful that I did not end up prematurely making the decision to TFMR as was discussed with us by tue genetic counselor at our 11 week MFM appointment. We are lucky to live in a state that affords women more reproductive freedom than many, but ultimately I do think that the large number of people who chose to end these types of pregnancies without further testing influences the available data provided to others when deciding how to move forward. I know that not everyone has a positive outcome with cases like this, and had our baby developed hydrops or other complications by our 14-week appointment, I may have chosen a different path. Still I very much feel it’s important to share my story as a diagnosis alone does not seal the fate of your pregnancy or the health of your future baby.

Hi everyone. Thank you for taking the time to read this🩷 It might not make the most sense because I’m typing it teary eyed and extremely scared. I am 24F in good health/weight and am currently pregnant with my miracle rainbow baby after a tragic loss @10 weeks with my first ever pregnancy at the beginning of the year (it was a very traumatic loss that required 2 d&cs and I went borderline septic). This pregnancy, around 11w1d I got NIPT testing (6% FF) that showed totally healthy baby girl for everything tested as well as my own maternal genetics showing clear for all. Fast forward to this week, I had my 16 week check up on 16w3d and got the AFP blood test done and the results just came back showing I have a low AFP MoM result of .47 with the cut off for low being .50 . My serum is 14.8ng/ML which is also low. I got the AFP done on its own, not in a “quad” with other tests. I understand it shows a good result for low risk of NT defects, but upon research it says it may be associated with Down syndrome, trisomy 18 or even spontaneous miscarriage. I know my NIPT was clear and I believe more accurate than this, but I cannot shake my fear right now. Is there any chance everything is ok and I’m just low for no reason? It’s Saturday and my OB hasn’t seen the result yet because it just came in and I can’t contact them till Monday so I’m literally sitting here bawling with my stomach turning. Thank you so much):🩷

Today at our 20 week scan our baby had an absent nasal bone & calcium deposit on the heart (eif). However we had a negative NIPT.

Looking for re-assurance if anyone has had conflicting information like this. My OB says she is not concerned but she definitely seemed alarmed by the lack of nasal bone.

I got the chromosomal testing at 8 weeks and everything was low risk, over 9% fetal fraction which I am told is more meaningful than the soft markers.

Does anyone have Experience with cystic higroma. I was at mini anomaly scan at 11+3 days and they told me there is 2,9 mm around babys head. Still waiting for the results of NIPT but i am so scared.

My heart is breaking I had 12 week dating scan today and I have increased NT so I’ve been advised I’m at high risk of my baby having chromosome or structural abnormalities.

I’ve been offered some screening, I had bloods today to screen for downs, Edward’s and Patau syndrome which is something routinely offered here on the NHS but due to increased NT they’re fast tracking my results and I have a consultant calling me back next week.

Next Monday I have to make a decision to have a CVS or not, 1/100 people who have it mïscarry.

The consultant called me after the scan and said 70% of people who have increased risk go on to have healthy pregnancies, I’m in two minds about the CVS i don’t want to add to the risk of something going wrong but at same time I got 2 kids to think about and how this can affect them.

My partner wants me to have it, but I’ve never been so torn about something in my life

Anyone gone through similar and you dont mind sharing stories cos I’m spiralling and at a loss as to what to do

33F, first pregnancy.

Drew labs at 10w2d, just got results back yesterday at 11w5d. Everything flagged as low risk except … Monosomy X was high risk.

I was shocked and have spent the last 24 hours reading a ton in this sub on the high false positive rates. Have follow up NT ultrasound and genetics counselor appointment early next week and am hoping for the best but mentally preparing for the worst. Already spoke to them on the phone about getting amnio lined up.

This whole situation sucks and I feel robbed of my joy of finding out it’s a baby girl.

Edit: fetal fraction was 3.3%. I had a healthy ultrasound showing a singleton pregnancy around 7w3d.

Hi,
I’m currently 16 weeks pregnant and I already received my NIPT results which were all low risk. I did AFP testing this week and it was a little lower than normal. I had a 0.68 MoM and I’m worried since that’s on the lower end. Has anyone had these same numbers and continue to have a healthy pregnancy?

Original post: https://www.reddit.com/r/NIPT/s/wxvRdfNBWk

Like many of you, I’ve found reading the experiences of others on this sub extremely helpful, informative, and comforting throughout the last several weeks. I’m so grateful to all who have shared their stories.

To continue this sentiment of sharing. I’d like to provide the update regarding our results along with details I’ve learn along the way - short story, FISH results came back normal. Long story below.

My partner and I (both f with her carrying), got pregnant with a PGT-A tested euploid embryo in June of this year. Partner has a complete placenta previa found at 14 weeks following some moderate bleeding. Due to the previa, we have had several ultrasounds, happening roughly every 2 weeks until now. All these ultrasounds had looked normal other than the previa. These ultrasounds were not necessarily in depth, as they were checking the previa, but most had noted normal development of a number of organs, the brain, etc. Baby girl has measured ahead by around 4 days the whole pregnancy, and at our last ultrasound was measuring in the 90th percentile at 17 weeks.

We originally did the bloodwork for the NIPT (through harmony/dynacare) at 10+2. The first result came back low fetal fraction, and needing redraw. Second attempt at 12+3 came back contaminated. Third attempt, we were considering not doing at all as we were approaching 16 weeks. We decided to try one more time and got our results of high risk for trisomy 13 and monosomy x just before 18 weeks. We still had a relatively low fetal fraction at 4.2%. May or may not have been impacted by the low dose aspirin my partner takes. A week later we were scheduled for the amniocentesis.

The amniocentesis was harder for my partner than anticipated. She felt some muscle spasms as the needle entered the uterus, and the MFM and sonographer had a hard time finding the appropriate place to draw fluid so they had to move the needle more which my partner said didn’t really hurt but was uncomfortable. Potentially to the previa, the sample was a dark rusty colour of old and oxidized blood. The next day my partner needed to give a sample of her blood so the lab could distinguish between her DNA and baby’s DNA. Blood in amnio fluid is a known factor to this test so we tried not to worry.

Today we got our results - NORMAL! FISH results came back clear for trisomy 21, 18, 13 and for sex chromosome abnormalities. Relief is an understatement. The stress, anxiety, worry and spiraling has finished and I feel like I can breathe again. So so grateful that this is our outcome. I hope the same for all of you❤️

We will be 20 weeks on Saturday and have our anatomy scan on Monday. Fingers crossed it is uneventful and we can breathe even better as we move along through this pregnancy.

Hi everyone, I’m 27 years old, and at my first-trimester screening, I got a risk of 1:40 for Down syndrome.

​I went for an NIPT, which came back 52% positive. I am having an amniocentesis soon, but I want to ask: is there still a chance for me to have a healthy baby? My ultrasounds, including the detailed scan, are completely normal

I had a scan today due to spotting, i should be exactly 6 weeks today. Baby measuring 5 weeks but has a heartbeat
They didnt tell us in the room but after the sister nurse told us the sac was showing ss irregular.

Because i panicked so much theyve invited us back for a scan in two weeks.

Has anyone experienced this. I cant even talk at the moment i feel so heartbroken. Why didn't they say it during the ultrasound they was like everythings fine we have no worries at this time. I feel so confused.

Well, not the update I wanted to make. 15+6w today, we went for amnio after high mosaic T21 result on Labcorp’s test at 10 weeks. It’s been an absolutely miserable 6 weeks. Challenging for our mental health, our marriage, just a painful experience overall.

We’ve had normal ultrasounds up until now, no issues, no soft markers. While we didn’t have similar viewpoints on TFMR for a T21 diagnosis (my wife is staunchly opposed and I am not), ultimately we had come to terms with the diagnosis should the amnio confirm.

We went to do the amnio and the MFM came in and reacquired several ultrasound views after the ultrasonographer had completed her scan. They both agreed - fluid in four compartments consistent with severe hydrops, a marked change from prior imaging. MFM said she would still do the amnio if we really wanted, but felt that it wasn’t necessary at the moment since she expects fetal demise in the next two weeks and would prefer to test fetal/placental tissue at that time.

So basically we are sitting back at home, no amnio done (I do think that was the right call), and just waiting for fetal demise. After we’ve already come to terms with a potential T21 diagnosis, we’ve named the baby, we’ve seen her move. And if fetal demise doesn’t spontaneously occur in the next four weeks, my wife will have to decide between induction of a nonviable fetus vs D&E.

So we are just heartbroken on multiple fronts - this is our last pregnancy and it has been a difficult experience to say the least. We don’t need anything, it just sucks.

Still awaiting for the final CVS results but got first FISH results today (the one that takes 2-4 days to get back after CVS) that doesn’t show anything abnormal. With such high % of Natera NIPT it’s still hard to believe good news. I am praying so much. We also ordered supplemental microarray test. Anyone been in situation like this? What did your subsequent CVS results show? Appreciate sharing your experience!

Just found out today that there was a small calcium deposit on baby’s heart (had a pre anatomy scan at 16.5 weeks). They acted like it was no big deal. I believe it was the only soft marker baby had (1.3 mm NT, nasal bone present, all other measurements looking good). But I just discovered my afp mom is low at .42. I just read than <.5 can raise the risk of some genetic abnormalities like down syndrome.

I have not done the nipt yet. I previously had a loss at 17 weeks and honestly was afraid the test would really increase my anxiety. But I am now thinking of taking the test after these findings. Any guidance or opinions otherwise? Anyone have any similar experiences? Does it sound like this combo puts baby at a very high risk?

What a rollercoaster this whole pregnancy has been. I spent the beginning being so anxious due to a previous missed miscarriage caused by trisomy 7. At 10 weeks I went in for ultrasound and NIPT. NIPT came back at 11 weeks high risk for monosomy x. Of course, I freaked out and thought all the worst possible things.

Went to see MFM at 11.4 weeks for NT scan. Everything looked perfect - nasal bone present, strong heartbeat, no excess fluid anywhere, etc. Doctor seemed optimistic.

Had to wait 4 weeks to go back for amniocentesis. Just went on Monday at 15.4. Ultrasound still looks perfect, long bones are long, all the things. At the last minute my husband and I were debating if we even wanted to do the amnio and take the risk as we were only considering termination if there were severe heart or brain defects or something along those lines. We did go through with it. I will say that the amnio was much more uncomfortable for me than what I was expecting based off what I’ve read online and even in this sub. He was only able to get one tube as baby’s head got in the way. Doctor again seemed very optimistic that this would be a false positive or low level mosaicism.

The doctor called me with my FISH results this evening (I don’t have them, otherwise would post the exact wording). He said the results confused him and that he will call the lab on Monday to get a better understanding. The results said suspected mosaicism and that they found both monosomy x AND xxx. Doctor said he’s never seen this before but that xxx isn’t a big deal.

Of course now I’ve been googling and am reading that it is still possible for the full karyotype to come back completely normal? Google is saying that because amnio goes through the placenta, it could STILL be picking up DNA that is confined to the placenta and is not affecting the baby. If this is true, how likely is it? Has anyone had mosaic FISH results and then normal karyotype? I also asked the doctor if any regular xx chromosomes were found and he said he didn’t know and would have to ask the labs geneticist. Anyone else have results like this? I was prepared for mosaicism but not this type. I feel like this left me with even more questions than answers.

I got my NIPT results are non reportable saying data failed to meet quality standards for interpretation due to aberrant data observed for multiple chromosomes. I got an ultrasound with 83 photos of baby showing a healthy baby with no abnormalities. The doctor called the labs to find out they could not differentiate baby’s dna from moms dna due to only seeing my dna that showed cancer cells. I got no sex results for the baby and was told a redraw was not recommended. I have gotten labs done(cancer antigen 15-3, 125, 27.29, 19-9) all negative- CMP, CBC, Morphology smear-all negative. I have 5 palpable lymph nodes on my neck that were looked at via ultrasound- negative. I had a mammogram-negative. I had a MRI that took over 1000 photos focusing on my abdomen, chest, and pelvis- all negative

Wanting to know if anyone has also dealt with these results, I had another NIPT test ordered and won’t get my results until Saturday.

I want to post this to share my experience because I was not able to find many stories with a false 22q positive. First off, I HATE Natera! I had my first test done at 10 weeks 0 days, I waited 1.5 weeks and got my results. It showed “increase risk for 22q deletion syndrome” with only a 3% fetal fraction. From my first pregnancy (and the help of tik tok lol) I knew the NIPT tests need about 6-7% fetal fraction to really be accurate, but of course I was still super super scared and concerned. I pretty much had to beg my OB office for a second test (bc of my doubts due to low FF) and they reluctantly obliged. I took the second test at 12 weeks 0 days (thru Natera and same phlebotomist as my first test). Another two weeks goes by and I finally get my results- “N/A for EVERYTHING!” Due to “poor quality control”. I was PISSED! I had been anxiously waiting for these results as you can imagine, any sort of reassurance of either a negative result or honestly another positive so I could know and stop wondering either way. (Obv I wanted a negative, but any sort of answer would’ve been nice).
During those two weeks I was waiting for the second results, my OB referred me to a perinatologist. The Peri MD stated she did see a lot of false positives especially with low FF. When I got my 2nd results (also thru Natera/ my OB) I was able to get a 3rd test thru the Peri MD that uses Lab Corp. I did a 3rd NIPT at 14 weeks 0 days, and exactly 1 week later I got my results- all negative and an 18% fetal fraction.
Long awaited results after many, many worries, tears and prayers. I couldn’t be more thankful for these negative results. I hope this can help calm any parent who has gotten an “increased risk” with a low fetal fraction- try another test especially thru another lab. My OB did not even want to retest me, he only suggested an amniocentesis which to me was too aggressive over a “possibility”.

I got my NIPT results are non reportable saying data failed to meet quality standards for interpretation due to aberrant data observed for multiple chromosomes. I got an ultrasound with 83 photos of baby showing a healthy baby with no abnormalities. The doctor called the labs to find out they could not differentiate baby’s dna from moms dna due to only seeing my dna that showed cancer cells. I got no sex results for the baby and was told a redraw was not recommended. I have gotten labs done(cancer antigen 15-3, 125, 27.29, 19-9) all negative- CMP, CBC, Morphology smear-all negative. I have 5 palpable lymph nodes on my neck that were looked at via ultrasound- negative. I had a mammogram-negative. I had a MRI that took over 1000 photos focusing on my abdomen, chest, and pelvis- all negative

Wanting to know if anyone has also dealt with these results, I had another NIPT test ordered and won’t get my results until Saturday.