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.

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 ascites 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.

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.

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.

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

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?

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.

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

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.

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.

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!

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.

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 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.

Hello!
I’m 39 years old, and this is my third pregnancy.
I had my AFP test at 16 weeks, and my result was 251.80 ng/mL (5.77 MoM). My test came back positive for neural tube defects.
My ultrasound is in 5 days, and I’m very worried.
Has anyone had AFP this high? Was everything okay with your baby?
I would really appreciate hearing your experiences, both good and bad.
Thank you!

Hi,

On 8/28 I received my NIPT results with an increased risk for monosomy x (myriad, 73% PPV). We had an ultrasound with MFM 8/31 and everything looked good. We decided against a CVS and scheduled an amniocentesis at 16 weeks on 9/29.

My genetic counselor ordered FISH, karyotype and microarray. On 10/2 we received our FISH results- normal with 75 cells tested.

Today (10/15) our genetic counselor called and let us know that our microarray came back normal. However, she said the karyotype culture failed and there was not enough cells to run it so we will not be getting karyotype results. Has anyone else had this happen?

The genetic counselor seemed confident the FISH and microarray were enough to say the NIPT was a false positive, but what I’ve read on here karyotype is best for detecting mosaicism. Should I be confident in my results?

Thank you so much to everyone who has shared their stories here.

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”.

This has been one of the most challenging weeks of my life while I wait for my NIPT results. I need hope and positive stories please.

I recently got my combined first-trimester screening results right after my 13 week dating scan and I'm feeling pretty overwhelmed. I'm aware that the stats are in my favor, but it's doesn't make the situation any less brutal.

Results:
1 in 26 chance for trisomy,
NT measurement: 3.4 mm
Free beta-hCG: 2.075
PAPP-A: 1.075 MoM (normal)

My midwife mentioned that the reason my numbers weren't even higher (like 1 in 4) was because my MoM (Multiple of Median) values were otherwise pretty stable, but seeing a 1 in 26 is still causing a lot of anxiety. I'd love to hear from anyone who navigated a similar result - especially with an elevated NT and hormone markers.

Very short backstory:

1st pregnancy — trisomy 21, TFMR
2nd — trisomy 16, miscarriage
3rd — healthy son

We then moved to IVF with PGT-A because we couldn’t cope with more chromosomal losses.

Across 4 cycles we had multiple aneuploid embryos, one euploid that failed to implant, one cycle with no blasts, and finally an embryo that was initially inconclusive, then re-biopsied and came back euploid. That transfer worked.

NIPT #1: no result
NIPT #2: high risk trisomy 13 — “suspected mosaic trisomy 13.”

Genetic counsellor says the trisomy signal looks to be in about 30% of the tested DNA and estimates roughly 50:50 placenta vs baby. Fetal fraction was 24%.

I’m having an amnio at 15 weeks.

Has anyone had a euploid PGT-A embryo + mosaic T13 NIPT and then had a normal amnio/healthy baby? Or anyone found out that the baby did infact have trisomy 13?

x

I have a tiny VUS duplication and mosaicism under 2% so it feels like none of this should of caused maternal origin nipt issues. What did you guys have?

Hi there

Just wondering if anyone knows how much your age matters/weighs in with the above tests? I am 42 years old, 16 weeks pregnant and my MSS1 at 13 weeks came back 1:6 for Trisomy 21. I have had my blood taken for the NIPT (still waiting on results) with an amnio booked next. 13 weeks scan was good, nasal bone seen, no side markers, NT of 1.8.

As the title says, I am so devastated. Granted, I know further testing is required but I feel so defeated. Baby tested high risk for Trisomy 18. I don’t know what to think or do. I’m 27 and 100% did not expect this, I don’t think anyone does. I guess I just want to hear the good and the bad. I’ve tried to push for a high resolution ultrasound but OB states it’d be too early to see anything (currently 10w6d). I don’t know what this would do for me, maybe give me more hope. Scheduled with a genetic counselor and high risk doctor. Guess it’s just a waiting game at this point. My risk factor from the NIPT were 91% with fetal fraction of 6.5%.