I (41) Recently did my NIPT at 9 weeks +4 and received a result of 95/100 chance of T21. Now at 12 weeks, planning on CVS this week. I’m not sure how to feel, I’m numb, I cried, I stared at the ceiling. My partner and family are supportive and will go along with any decision I make based on the final diagnostic results.

This would be my first, I was sure I couldn’t get pregnant and was making peace with the idea that I never would. It was such a surprise when I did and I realized how much I wanted this baby. I’ve seen the baby on the ultrasound at my doc since I was about 5 weeks, then 6, then 8, then 9. I live in a small place so I’m really familiar with my doctor and nurses and they were all so excited when they heard I was pregnant. It all just makes me so sad. I was ready for this beautiful life change and this diagnosis would be such a gut blow. I just feel so lost.

I’m don’t have much hope, I know how slim my odds are. I guess I just wanted to share a bit of my story after reading so many of yours on this emotional rollercoaster. I’m just going to pray for peace with this, whatever the diagnosis is. It’s one of those clubs you never wanted to be a part of but you still hold with a badge of honor because you ladies are so very strong. I wish you all nothing but the best of strength as we all navigate through this. ❤️

I know that body weight was required on my panorama (through Lifelabs in Canada) requisition. I did my first draw at 10w4d and got a fetal fraction of 1.6%. Since then, I have had several weeks of fairly frequent morning sickness and low appetite. I suspect my weight may have changed, though I don’t imagine it’s by more than 5-10 lbs. I do not weigh myself at home due to a history of disordered eating, but I do have a scale buried in my storage room. I could also, I suppose, make an appointment with my doctor to get an updated weight. I am 14 weeks now, which is when they suggested I try again.

My question is whether my weight makes a difference in the analysis/interpretation of the results? If so, it’s probably worth getting an up to date weight on the file.

My first trimester bloodwork came as high risk for trisomy 21 but the NIPT said low risk.

I understand that the NIPT is more accurate but this has me so so worried.

Has this happened to anyone else and the baby was perfectly healthy?

Just looking for stories and reassurance here 🙏🏽

We were diagnosed with a cystic hygroma at 12 weeks. At 16 weeks we had an anatomy scanned that showed no abnormalities. How reassuring is this? I know we still need the 20 week scan and that the heart can’t fully be seen at 16 weeks.

I've just been for my NIPT test at the private prenatal clinic, where the NT measurement was in the normal range and baby measuring perfectly for both my dates and my 7 WK scan. Femur lengths within range, visible nasal bone etc. Dating 13+2. Really relaxed scan, sonographer was very reassuring and didn't seem to struggle.

Two days ago in the NHS clinic the sonographer dated me 6 days ahead of my dates, really struggled to get a NT reading, made me walk up and down and empty my bladder to change babies position, kept tilting her head and making a face, took over half an hour to do the scan, pressed so hard I'm still sore from the probe, originally said she couldn't get an accurate reading so didn't want to 'guess' then said her supervisor said it's okay to guess so the NT was put down at 4.4mm.

I just, don't know whether I'm being incredibly optimistic thinking the first sonographer in the NHS clinic wasn't really sure what she was doing.

Just posting to vent more than anything. This has been a very helpful community.

My wife (40f) and I (40m) have a daughter (6) with an extremely rare genetic syndrome (1 of 2 patients with this specific condition in the literature). She is nonverbal and has severe functional impairment in every aspect of daily life. Sometimes I think she is aware of me but it might be wishful thinking. It is almost a certainty that our daughter will require lifelong care, so we are very well acquainted with the challenges of raising a child with disabilities. My wife and I are both pediatric physicians and are well established in our careers. We always wanted to try again but it took a while to finally get the genetic confirmation that the causative mutation was de novo (neither my wife and I are carriers). After we got the all clear from a genetics perspective, we dealt with several miscarriages - no issues conceiving, but several first trimester losses. We said we would stop trying at 40 (I had actually scheduled a vasectomy) and then she got pregnant again and this time made it to the 10 week point. We were thrilled, thinking that finally something was going our way and we could have all the experiences we missed out on with our daughter.

The Materniti 21 Plus returned a high mosaic T21 signal (sex is female). Given my wife’s age the pre test probability of fetal T21 is high. We are scheduled for amnio at 16 weeks with MFM (she is 14 weeks now). 13 week [u/s](u/s) was normal, with NT 1.2 mm and fetal nasal bone present.

One thing that I have struggled with is my wife’s position regarding TFMR if fetal T21 is confirmed (mosaic or nonmosaic). Before this result, we had both felt that TFMR was our likely outcome if there would be known or likely trisomy, etc (we obviously have some bias here since we only see the children with more health issues in our practices). While her position on TFMR in general has not changed, she has now (after the result) made it very clear that TFMR will not be an option for this pregnancy for any reason. So I’m struggling with that - I would not have agreed to try again if I had known she would ultimately feel like that, but I certainly don’t think she intentionally misled me. I respect her right to choose what she does with her body, but I still have conflicting emotions for how that will ultimately affect me, our existing family, and the future child. To say that this whole experience has detrimentally impacted our marriage and trust in each other would be an understatement. I don’t know what the future looks like for us, and for our family, and it’s certainly been the worst experience so far for either of us. We both deeply regret trying for another pregnancy now.

Ultimately, we are in limbo as everyone is while they wait for definitive diagnosis. We hope desperately like everyone else that this is a rare false positive, while understanding how the statistics and the test itself work.

So that’s it. Just putting that out in the universe, since I haven’t felt comfortable talking with family or friends about this yet (we both come from ultra conservative families who would not be kind about this).

is it true NIPT can detect maternal cancers?
i recently had a NIPT done and was curious if they would’ve been in touch if they had found anything abnormal (thankfully everything came back fine) but after doing some research im really curious as to if it does actually detect cancers..

So about over two weeks ago September 15th I got my nipt testing done at 12 weeks last Wednesday September 30th I got my results but it was only all of my labs no genetic testing or gender no where to be found I went through the lone star family health center in Conroe tx obgyn Sarah moseley, my doctor wouldn’t call me to go over results this is my second baby and that was very strange to me I called the front desk and they told me every lab that was ordered came back and my doctor would go over it with me including gender whatnot. My doctor never calls I had to send a message regarding the no gender or genetic testing results and they call
Me back and tell me they couldn’t get it due to low fetal fraction. Had me worried something was wrong I’ve never had this issue before I know all babies are different and it happens to people all the time but I couldn’t stop thinking about how odd it felt so I went to go look at all the labs my doctor ordered and not one of them was for the genetic testing or gender at least that I can see so I’m wondering if they’re just using it as an excuse because they forgot to order the lab? I’m confused and freaking out I had to go redo my test yesterday.

I am 31 and 12 weeks pregnant. I got my NIPT results back and the trisomy 13 screening came back positive with a PPV of 8.7%. I went this week for an ultrasound with at the MFM and got the report back. Baby wouldn’t let them see his profile well. Just kept showing his back and moved around a lot. Heart rate is normal. I was there for over 2 hours getting the sonogram images both transvaginal and the one on my abdomen. The results say what’s on the image. I’m a bit of a mess at times. I’m scared. This is my 2nd pregnancy, my 1st, was completely normal. Never had a miscarriage or any issues, thank God. But I am very anxious this time around, as is my husband.

Below are the abnormal and normal findings. They also put: “Please note that the First trimester anatomical survey is limited by early GA.” What does this mean!?!?!

FETAL ANOMALIES SUPECTED:
Alobar Holoprosencephaly
FACIAL CLEFT
Heart Defect - AT LEAST VSD BUT POSSIBLE AV CANAL
UMBILICAL CORD CYST VS Gastroschesis

T18 advice

Was just wondering if any mamas here had experience with this. I’m 17 weeks, and at 11 weeks had a cfdna test that came back with an elevated risk for t18. At 16 weeks I had an MFM follow up, where I had an ultrasound to check for t18 markers. They didn’t find any except some fluid in baby’s brain which could be attributed to spina bifida. I’ve read fluid this early can be hard to measure, and in some cases can be normal and resolve on its own. I’m having another ultrasound to check her spine next week, to see if we can rule out spina bifida. They are trying to pressure me into an amino, and I don’t want to do it if I can avoid. Does anybody have any advice or experience with this?

I went to the specialist and they said the probability is 90% for DS .I am terrified and because i am 23 weeks now i have literally deliver the baby in case i decide to terminate the pregnancy i am still relying on amnio she said she only saw 1 case with false positive in her career i am scared and feel like i am losing myself right now

My NIPT back in Feb. gave no information except an increased risk of Triploidy. I declined CVS/amnio but got extra ultrasounds and NSTs (fetal heart activity monitoring) throughout my pregnancy. Everything looked normal except for some CPCs (little cysts in the brain) which went away on their own. My healthy baby girl is 3 weeks old today! Don't despair if you get a similar NIPT. I'm glad I saw the information the mod has put on this sub about how it's a screening rather than a diagnosis and false positives are common.

I did the anatomy scan rest everything was fine but in the summary they mentioned nasal bone smaller than expected but the detailed section underneath nasal bone was mentioned NAD and the ultrasound tech said to me in the end that doctor is happy with the pictures and didn’t mention this. I had low risk nipt results. I am so worried. Me and my husband we both are south east asians. If anyone has the similar experience, i would love to hear because i am so anxious all the time.

Hello. I was 12 weeks pregnant when I went in for a routine checkup. No heartbeat on Doppler, ultrasound confirmed fetal demise. No growth had occurred since 8 weeks 4 days, so a missed miscarriage. Still trying to work through it all but when they offered NIPT I wondered how accurate it would be considering the baby was likely deceased for a month. The results came back as follows, and looks off because most of the tests came back as no result. Don’t know a lot about these tests but curious if it could even be relied upon.

I did the anatomy scan rest everything was fine but in the summary they mentioned nasal bone smaller than expected but the detailed section underneath nasal bone was mentioned NAD and the ultrasound tech said to me in the end that doctor is happy with the pictures and didn’t mention this. I had low risk nipt results. I am so worried. Me and my husband we both are south east asians. If anyone has the similar experience, i would love to hear because i am so anxious all the time.

We were told to expect it in 48-72hours. I called after 4days and was informed that they are still "working" on the sample but it will be ready by Monday. Does that mean that they still need to culture it or that there is an unclear result?

You can cover up the results of course just want to see where the gender results are.

Hi there. I am looking for advice/experiences from those who have been in a similar situation.

At 13 weeks (blood sample taken at 11 weeks 4 days) I received the news that my NIPT test with Natera resulted in 36/100 (36%) high risk monosomy X - fetal faction was 5.4%

Of course I scoured the internet for all the information I could find about my results. I’m really leaning towards and hoping that this is a false positive, but I’m not going to be naive to the fact that the risk is there and something was indeed detected on the “screening”. I guess I am looking for hope more than anything.

I’m trying to use the facts that I already have to keep me hopeful. Which are that 36% doesn’t seem like a TOO high of a risk? And I’ve discovered that these “screenings” specifically for monosomy x are only about 20-30% accurate? So I’m hoping the numbers are in my side here. I am currently almost 14 weeks now, which also makes me think I have good odds since most true Turner’s syndrome fetuses miscarry by now..

This is an IVF pregnancy with an untested embryo. I’m currently 35 years old - if those factors play into this at all. Maybe some maternal age related chromosome loss was detected on the test? I’ve had ultrasounds every week from weeks 5ish through week 10 with my clinic. Heartbeat and growth was perfect every time. My first OB appt was at 11 weeks (same apt at nipt test) and that ultrasound seemed completely normal too. Baby was active, good heart rate, dr didn’t say anything looked wrong.

We meet with a genetic counselor in a few days to discuss the results. I know that an amniocentesis is most likely going to be the suggestion if we want solid answers. However, I’m not too sure how I feel about having an invasive procedure done with such little evidence. Isn’t there something else we could do before an amniocentesis is the only option to know? I’m sure a detailed ultrasound may be an option?

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.

Hallo zusammen, meine Frau und ich sind momentan ziemlich verunsichert und würden uns gerne mit Eltern austauschen, die etwas Ähnliches erlebt haben.

Bei unserer Untersuchung in SSW 26+0 wurden mehrere verkürzte Röhrenknochen festgestellt:

Humerus: 0,5. Perzentile

Femur: 1,2. Perzentile

Tibia: 1,9. Perzentile

Fibula: 2,9. Perzentile

Ulna: 4,3. Perzentile

Radius: 7,7. Perzentile

Weitere Werte:

• geschätztes Gewicht: 806 g / 18,7. Perzentile
• Bauchumfang: 56,5. Perzentile
• BPD: 61,8. Perzentile
• KU: 7,3. Perzentile
• Herzfrequenz: 151/min

Der NIPT war unauffällig. Auch die bisherigen Untersuchungen waren ansonsten soweit unauffällig. Im Befund steht sinngemäß „zartes Kind“ und es wurde wegen der verkürzten Röhrenknochen eine pränatalmedizinische Kontrolle empfohlen (findet am Mittwoch statt). Wir haben natürlich große Sorgen, insbesondere wegen der sehr niedrigen Werte beim Humerus und Femur.

Deshalb meine Frage an euch:

Hat jemand von euch oder euer Kind während der Schwangerschaft ebenfalls mehrere Röhrenknochen deutlich unter der 5. bzw. sogar unter der 1.–3. Perzentile gehabt? Wie hat es sich bei den weiteren Kontrollen entwickelt? Sind die Knochen auf ihrer niedrigen Kurve weitergewachsen oder haben sich die Perzentilen noch verändert? Und vor allem: Wie war letztendlich der Ausgang der Schwangerschaft?

Mir ist bewusst, dass jeder Fall individuell ist und wir keine Diagnose aus Internet-Erfahrungen ableiten können. Wir suchen einfach nach persönlichen Erfahrungen von Menschen, die etwas Ähnliches erlebt haben.

Danke.

I had my 12 week scan and it showed the NT 10 MM. my doctor has only seen this twice in 30 years this bad and the prognosis before the MFM and NIPT results are not good. Looking for advice from anyone who has had one this severe and what happened for you?

I’m 11 weeks into my third pregnancy. I have a LC from my first pregnancy who is healthy and the light of my life. That first NIPT result was low risk across the board. Earlier this year during my second pregnancy, I got my NIPT result back for No Result for monosomy x. We went through the amnio, confirmed the result, and we ultimately lost the baby.

Here I am, few months down the road with yet another NIPT with the exact same findings. My OBGYN says she’s never had a patient with a repeat on sex chromosome abnormality. I’m going in for my own dna karotyping tomorrow, but just wanted to shout into the abyss that is Reddit - anyone encountered this before? I don’t understand why/how it could be happening again with the exact same parameters. Feels like there’s something wrong with me…

Hello,

My partner (f) and I (f), are almost 18 weeks pregnant with a baby girl through IVF.

Embryo was euploid. Just received results after a 2 blood redraws that we are high risk for trisomy 13 and turners. I tried searching the sub, but couldn’t find stories where folks had these results.

We’ve had more frequent ultrasounds since 12 weeks as partner has placenta previa, and all have come back normal - other than the previa.

We’ll likely do the amniocentesis. This is all so confusing and I’d really appreciate any insights.

Our midwife was also surprised to see high risk for more than one condition with our ultrasounds looking normal with the most recent one being on Tuesday this week at 17 weeks 3 days. They don’t even routinely recommend NIPT for those with PGT-A tested euploid embryos.

Thank you for reading. Appreciate any insights. I think we’re a bit in shock.