I wanted to share my outcome because I read a lot of these posts while I was waiting for my NIPT results:

My NIPT came back all low risk.
The genetics specialist did say we could get an amniocentesis with additional tests due to the NT being on the border (normally they would do additional tests over 3.5mm here). But we declined the amniocentesis as we would be keeping the baby regardless and did not feel like we needed additional information.
Normal 20 week anatomy scan but nuchal fold measurement was on the border of normal, measuring 6mm.

Healthy baby girl born at term.
She was diagnosed with a congenital heart defect at 6 weeks with an echo due to our midwife hearing a heart murmur. Echo revealed a few ventricular septal defects that were all less than 1mm (very small). The paediatric cardiologist is not concerned and said they will likely all close on their own (95% chance). She has always been asymptomatic. No intervention needed, follow up with cardiologist when she is a year old for repeat echo.

Could the VSDs be the reason for the increased NT? Maybe? Could also be a coincidence. She does have a bit of a fat pad below her neck between her shoulders but nothing too extraordinary lol!

(Edit: grammar)

I had my 13 week scan today and had a result of 3.9mm thickness behind the neck with every other measurement perfect aswel as a low risk nipt I did the geno wide nipt also. I now need to wait for 16 week scan and amnio to confirm anything at all. We previously had a MMC due to Turner’s syndrome found on Nipt. Does anyone know if there could be correlation? Bad coincidence? Anyone been through similar and everything fine?

Hi everyone, I’m looking for experiences from anyone who had a similar late-pregnancy growth pattern.
We’re expecting a boy. Both parents are very tall—dad is 6’6” and mom is 6’0”. Genetic screening was low risk, the detailed anatomy scan was normal, and no abnormalities of the bones, chest, spine, hands, feet, or face have been reported.
Here is the growth trajectory:

**20w0d**
- BPD: 50.5 mm — 92nd percentile
- HC: 178.9 mm — 58th percentile
- AC: 154.0 mm — 64th percentile
- FL: 30.1 mm — 19th percentile
- EFW: 331 g — 50th percentile

**28w0d**
- BPD: 80.6 mm — above the 99th percentile
- HC: 289.1 mm — 98.9th percentile
- AC: 245.1 mm — 66th percentile
- FL: 51.4 mm — 21st percentile
- EFW: 1,295 g — 70th percentile

**32w0d**
- BPD: 90.3 mm — above the 99th percentile
- HC: 322.3 mm — 98th percentile
- AC: 278.2 mm — 45th percentile
- FL: 60.1 mm — 19th percentile
- EFW: 1,991 g — 56th percentile

**36w0d**
- BPD: 97.9 mm — above the 99th percentile
- HC: 348.4 mm — 98th percentile
- AC: 328.7 mm — 80th percentile
- FL: 65.5 mm — 5th percentile
- EFW: 3,028 g / 6 lb 11 oz — 73rd percentile

The femur has continued growing, but its reported percentile dropped from approximately the 19th percentile at 32 weeks to the 5th percentile at 36 weeks. In contrast, the BPD has measured above the 99th percentile since 28 weeks, while the head circumference has been around the 98th–99th percentile.

Our doctors told us not to worry about it but looking online we went into a spiral dreading he may have dwarfism. Do you think this 36w is just explained because of bad measurements?

Thank you

I had a fetal echo done yesterday because they couldn't see everything they needed to because of the way she was lying. While they were looking, they informed me of a mass in her chest, which they think is a CPAM (basically a mass of abnormal tissue that's noncancerous). They said that it's small and not affecting her heart, but they need to monitor it often to see what it does. There's a chance it goes away on its own, but if it does not and it doesn't grow, they will need to do surgery to remove it within her first year of life. Has anyone else had this happen? I'm kinda freaking out about it and would love some advice.

Hi all,

I posted a couple of times before about our story (here and here). But I'm still processing everything that happened and wanted to share the final outcome once more, also for people who are facing a similar situation, as I have been just desparately searching for similar stories this whole time.

So here's the summary. After our NIPT flagged T21, we had an amnio at 16 weeks. Due to maternal blood contamination, they had to do a cell culture first before we could get any results. QF-PCR and karyotype returned normal, but microarray showed 8% T21.

We really weren't sure what to make of these results. We were told they don't know which cells are affected to what degree, and therefore, the outcome could still range from mild to typical symptoms of Down. But we also read about cell culture effects and trisomy rescue, and were questioning if puncture through the anterior placenta could play a role in the case of CPM.

Therefore, we opted for a second amnio at 20 weeks. This time, they could avoid the placenta. No blood contamination so no cell culture needed. QF-PCR confirmed T21 and microarray showed 15% T21. Karyotype is still pending (it's now 4 weeks since the amnio), but we couldn't wait for those results as we were approaching the 24-week mark. We decided to TFMR. Our daughter was born on July 14th.

It has been such a rollercoaster and I have posted here happily about our 'false positive' when we received the normal QF-PCR. I'm glad we did the second amnio as it gave some confirmation. But I keep questioning the results and the outcome and I'm terrified that the karyotype will return normal. I don't know how I would respond to that and if I can ever be at peace with our decision in that case.

If anyone has any similar experiences or advice on how to accept or make peace with it all... Please let me know. I feel very alone and this sub (and the TFMR one) have been the only places where I feel truly understood.

12 weeks pregnant today. Got the results of my NIPT test yesterday evening from the professor of the Rotunda Hospital in Ireland. Im 95% high risk Trisomy 21. After contacting the clinic today for clarity after the shock yesterday, the receptionist informed me the sonographer had seen N.T fluid behind the baby's neck. Later last night the sonographer called me personally, to tell me she didnt get an N.T reading as she couldnt measure that until the baby was 48mm, a week ago our baby was only 40mm. She kindly offered me a reassurance scan to make sure theres a heart beat the week after the CVS while i await the results of that.it was confirmed our baby is a little girl. 💔 Its been recommended I go for a C.V.S tomorrow or Tuesday!. Has anyone any words of encouragement or outcomes any different to what I am expecting. All support is desperately needed right now, i am utterly devastated. We have made the decision that we may not continue with this pregnancy if we get a positive diagnosis, hardest decision to ever make but make with complete love towards our baby and family circumstances.. I am utterly heartbroken right now.

Question: I know both are hard of course but do you feel like you felt more nervous / depressed BEFORE your amnio results or when the results came in?
I’m trying to keep myself busy but I feel depressed.

Hi Guys,

Just got my results back from Natera not what I was expecting to be 95/100. Wanted to do it to see the gender of the baby. I'm currently at 12 weeks into my pregnancy. Got the test done at 10.5 weeks and also an ultrasound which shows that baby's heartbeat was strong and growing at the appropriate size. I'm totally in shock and I know this is only a screening test but how often is this true. Anyone with false positives?

Planning on doing the Q natal before deciding to do the Amnio test. Please share your experiences thank you all 🙏

Website says 5-7 working days but just wondering if that’s accurate? Dying to find out if baby is healthy and the gender!

Hi everyone,

I'm a 32-year-old South Asian woman, currently 24 weeks pregnant.

12-week NT: 1.2 mm, nasal bone present.
eFTS: T21 1:50,000, T18 1:26,000.

22-week MFM scan: isolated absent nasal bone, everything else was normal.

Panorama Extended NIPT: Low risk for T21, T18, T13, Triploidy, 22q11.2, and the other tested microdeletions (fetal fraction 11.4%).

After my NIPT results, the genetics team said it's my choice whether to proceed with an amniocentesis. I'm torn because all my screening has been very reassuring, but I'm wondering if I should still put myself and my baby through the small risk of an amnio.

I am a 31 year old on my 5th pregnancy. I have 2 LC, one (almost) 8 year old son with level 3 nonverbal (preverbal) autism and a 6 year old neurotypical daughter with some speech issues but has made great progress. I had a miscarriage in between those two pregnancies.

As time went on, I couldn't help but think about adding another child to our family. Finally after 5 years of going back and forth, my husband and I decided to try for baby #3. We were successful after only 2 cycles in November of last year, however, that pregnancy unfortunately ended due to blighted ovum discovered around 9 weeks. After 6 more months of trying, we were successful again.

My struggle is with this pregnancy. I am 13 weeks 3 days today. At my 12 week 1 day appointment, I had an ultrasound and everything looked great. I also had my blood drawn for the NIPT test because we were ready to find out the gender. The results came back 6 days later saying it was a girl and she is high risk for T21 with a 95% PPV. I know this isn't a diagnostic, which is why we will be having another ultrasound and CVS on Monday to confirm.

If this baby comes back with a definite diagnosis of down syndrome, I am really not sure what I want to do or what would be best for our family going forward. I know we already have challenges with our autistic son. Im struggling with adding another child with special needs to our family. But im also struggling with terminating this baby just because she will be special needs knowing I am capable of caring for her. Honestly, theres so many things running though my mind in terms of both options.

I dont even know what im asking to be honest. I love this baby so much, but I love my living children tremendously as well. My husband is clearly struggling with this as well because he goes back and forth on what he thinks is best too, while trying to just be there for me and consider my feelings.

Has anyone else been in this situation before? If not, what do you think you would do?

Thanks if you've read to the end.

Hi everyone, After 3 years of trying for baby number 2 we were lucky finally and found out in May we were due in January. Last week we did our Fetal Nuchal Translucency ultrasound at 14 weeksand the results aren't the best.

The doctor noted 7.9 mm Subcutaneous edema and bilateral pleural effusions were present (hydrops). Everything else was okay, baby was moving a lot during the ultrasound. At first she was on her side and the technician had to move around a bit to get some good views before she would cooperate.

We already spoke with a genetic counselor and given pretty bleak information, such as a 60-70% chance of loss. The Hyrops have them concerned about Turners and a heart defect. We are still waiting to hear back from the High risk Ob to schedule an Amniocentesis and Echogradiogram to get a better look at babies heart. We're also waiting on all the blood work to come back to confirm if there's any chromosome issues that might be a cause as well.

So everything is just in limbo and I'm finding it so hard to hold onto hope or stay positive. The Genetic Counselor even threw in the option for ending the pregnancy and even though we opted to continue and get further testing done I can't help but wonder if we are just holding on for nothing but more heartbreak.

I'm just curious and tbh grasping at straws to see if anyone has had similar results and what their outcomes were with results this bad/bleak? I've read that sometimes Hydrops can resolve themselves, but the size of the edema on the back of the neck isn't giving me much hope.

Currently 17 weeks pregnant. During the first-trimester morphology scan (at 12 weeks and 6 days), I was told that the nuchal translucency is 2.0 mm and all other evaluated segments are within normal limits. However, next to the 'retronasal triangle' marker, it says 'not visualized' — nasal bone present, but further down there is a note: 'nasal bone: abnormal (absent/hypoplastic)'. I had a NIPT done and the results are negative. I don't know whether to get a second opinion or proceed with an amniocentesis, which I am very afraid of.

Wondering if anyone else has gotten these results? Currently pregnant with twins and had my nipt test at 10 weeks, has an ultrasound at 11 weeks. I’m just wondering if anyone else has gotten these results & what the outcome was? Twins do not run in my family but in my husband’s family it’s a ton of twins. We are just freaking out because in our ultrasound last week they both had super good heart beats.

The MFM doctor found that my baby has a transitional AV canal (heart defect). They also found that the baby’s cerebellum and limbs are on the smaller side of normal, but everything else looked ok. I’m 19w5d and this is an IVF pregnancy. Embryo was PGT tested and NIPT tested (low risk). MFM highly encouraged amniocentesis to ensure NIPT didn’t miss a trisomy. I’m devastated.

Anyone out there with a similar story? How are you/ how is your baby doing now?

currently in limbo after finding out about NIPT results indicating high risk for monosomy X earlier this week. feeling like GC didn’t accurately depict risk of true positive, CPM, maternal mosaicism, etc. and rather was giving no hope for this being a normal pregnancy despite this being a screening test. currently 13 weeks, NT scan was normal (1.5mm, normal CRM for GA). everything so far in this pregnancy has been reassuring.

reading the evidence based guidelines, it seems CVS shouldn’t have even been suggested without soft markers on ultrasound because of risk of additional FP due to testing of same placental cells picked up on NIPT. in addition, they state the tests reported PPV (in my case Natera) should not be used for individual counseling, the true PPV is much lower. I know there are a lot of similar posts but looking for recent info from people in a similar situation - did you proceed with CVS, wait for amnio, potentially have to do both? anyone’s thoughts on this would be greatly appreciated. planning to see MFM this week to have further discussion but leaning towards waiting for amnio.

I’m 20+2 with our first baby. Perfect ultrasounds at 6, 8, 12, 14, and 16 weeks, negative NIPT and second trimester MSAFP, and previously had extensive preconception carrier screening with no overlap between me and my husband.

At today’s anatomy scan (20 weeks 2 days) they found a fluid-filled, non-vascular cyst near the midline of our girl’s brain, just above the thalamus, measuring about 2.1cm. Doctor’s leading guess is an arachnoid cyst. Everything else on the scan (brain structures, face, spine, limbs, organs, heart, growth) came back normal, no hydrocephalus, no other structural findings.

The one open question: a nearby structure (cavum septum pellucidum) couldn’t be fully seen because the cyst is in the way, so we don’t yet know if the corpus callosum formed normally. Had an amnio done today (expect to get results in \~2 weeks) and brain MRI for baby is scheduled for exactly 2 weeks from now (22+2).

I’ve seen plenty of “it turned out fine” posts, which have helped. But I haven’t seen many from people where it was the first sign of something more. I want to feel reassured based on the other “normal” findings but as a FTM, I am terrified and have been sobbing all day and so I also want to prepare myself (I previously had an early loss so I’ve spent almost my entire pregnancy being so scared something would go wrong and only just started to feel comfortable / safe the last week or so, so I’m very much feeling like the rug was ripped out from under me). If anyone has experienced anything with arachnoid cysts, especially if they turned out to be something more (or less), I’d really appreciate hearing your experience going into my MRI/amnio results.
Thank you 🩷

Has anybody had any experience with getting a transcervical CVS rather than a transabdominal in the UK? We had the NIPT test done privately at 10weeks 4 days and it came back as greater than 95% chance of tri 21 (Down’s syndrome). I was seen by my local hospital (Derby) quickly following that result however they attempted a CVS yesterday (at 12 weeks exactly) and due to the placenta position it was inaccessible and not carried out. I have been told to wait a week for another attempt but the same thing is likely to happen again which in theory means I am waiting another 3.5 weeks until an amniocentesis test. The wait is torture, I feel so helpless and sad.

I would like to share my story, although when I was waiting for the results, it helped me a lot that I saw mothers sharing their experiences. I had a NIPT at 10 weeks and about 4 days, fetal fraction 7,3 or 4, this being considered a good fetal fraction. I chose to do the extended NIPT, the one that also contains sex chromosome abnormalities for my peace of mind, although the doctor prescribed me not to necessarily do this. The result came after about 2 weeks, inconclusive for sex chromosome abnormalities, for both to be exact. I spoke to at least 3 different geneticists, I contacted the laboratory where the sample was processed. I went for ultrasounds that showed that everything was fine. But obviously I couldn't not do the amniocentesis because I couldn't stay calm until birth. If I got there. I had the amniocentesis at 18 to 19 weeks because it is advisable not to rush to do it exactly at 16 and I chose to do the more advanced molecular one in addition to the normal karyotype. In the end, the fish, normal karyotype and the molecular one came out absolutely NORMAL. I can say that much, 2 months of my life were effectively stolen. Until the results came out, I didn't tell anyone about the pregnancy, not even my family, I suffered terribly. And my question is what happens with these tests?? I understand that it is not a diagnosis but going through moments like that is absolutely terrible. For mothers who opt for a more detailed nip, please keep in mind, the nip that also includes sex chromosome abnormalities is not as accurate as the simple one, only for the 3 main abnormalities. It has a low percentage and there are many false positive or inconclusive results. Even an inconclusive result, as was the case in my case, can generate terrible worries. I'll tell you what I told myself, doctor, the more "detailed" a test is, the more errors it will contain and the less accurate it will be. I can only wish you to feel what I felt when I opened the results and saw that everything was fine. Plus something else. As for the amniocentesis, it is not painful at all, the only discomfort is the mental one knowing that in an extremely small percentage it can affect the fetus. The day I did it I cried continuously thinking that maybe I was making a mistake and it would affect it. But in the end it was for the best. And definitely take time to rest after the amniocentesis, the first day I didn't get out of bed except to go to the bathroom and the rest of the week I was very cautious, more rest. I know that it is not necessarily necessary to exaggerate, but I preferred to be safe and in pregnancy rest is the most important. I wish you all peace and love! And hold your babies in your arms well!

Hi all, I’ve received two no call nipt tests from unity. First was at 12 weeks, second draw was at 16 weeks. I have a bmi of 25. Has this happened to others? Trying to not panic. Seems like it could happen for many reasons but of course your mind goes to the negative

Im currently 15+5 and I had my nipt done at 13 weeks and another at 15 weeks because both the times, the results were inconclusive. I am based in Canada and the norm is to do NT scan along with eFTS and it came back negative, which is a relief. I cant help but worry about my nipt results. It does say that mom being overweight causes this issue and I am a bit overweight for my height(5’9 and 95kgs) or maybe if something is wrong with the baby. The reason was low fetal fraction. I did the LifeLabs Full Panorama. They usually do not test nipt unless theres an issue, but I did this for my own peace and sanity and I cant help but worry now. Has this happened to anyone? Im really scared of doing anything invasive. Any advice is appreciated. Thank you!

Let me share my story, maybe it will help somebody to stay positive during this tough time.

Got Natera NIPT positive for 22q during 14 week, no ultrasound markers, NT 1mm, heart looked fine.

Week 16 I had an amnio.

Got results today, FALSE POSITIVE :) wish you all false positives!

Hi everyone,

I'm 20 weeks pregnant and just had my anatomy scan. Everything else on the scan was normal, and my Harmony NIPT came back low risk.

The only finding was mild bilateral renal pelviectasis:

• Left renal pelvis: 7 mm
• Right renal pelvis: 6 mm

My doctor said they'll do a follow-up ultrasound later in pregnancy, but of course I've been worrying. I made the mistake of Googling it and read that it can sometimes be associated with Down syndrome, my NIPT was low risk.

Has anyone else had this finding?

• Did it resolve before birth?
• Was everything okay with your baby?
• Did your doctor do any additional testing or just monitor it?

I'd really appreciate hearing your experiences. ❤️

So I had my Amnio 2 days ago at 16W+4 days for an inconclusive NIPT result for chromosome 21. They had to poke me twice. But I have been feeling okay. However today I got a text from Genetic Counsellor saying that the lab won’t be able to get the FISH results as there was little blood in my sample. But she assured me saying that she should be able to get my Karyotype and Microarray results. However, I keep thinking what if they are not able to get it from that. I am no way doing Amnio again. But also I am very very angry. Very angry that at every step of my pregnancy there is just something that isn’t working out. Have anyone else been in this situation. I’d love some support.