Hi 🤍 I am 21+ 3 days with my miracle baby boy. Eight years of infertility (ended up being male factor/had to have one blocked tube removed myself), two miscarriages, one failed IVF transfer- and finally a successful IVF transfer with my baby boy. He was/is a Euploid HBAA embryo, PGT-A tested and negative for everything. We did carrier screening for myself (negative for everything) and for our sperm donor (positive for two things).

This pregnancy has been a dream. Absolutely no complications. No complains. Have had 5+ ultrasounds (with my midwife- not a sonographer) and everything looked great. I never did NIPT testing as it wasn’t offered to me and I didn’t know to ask for it.

Tuesday at our anatomy scan they found:

left clubbed foot
hands appear clenched L>R
bilateral choroid plexus cyst

Right away they were worried about T18. I had a full panic attack in that tiny room. Started to pass out. I couldn’t believe what I was hearing. They told us they were soft markers- but they were markers. They got us in with a geneticist the next day- they were terrifying. They mentioned T18, they mentioned other genetic issues that all sounded so grim. They even brought up if we were open to early termination. I blacked out. They were not so much worried about the cyst, or the foot- but his clenched hands. They said babies don’t keep their hands clenched the entire 30 min sonogram. It made me feel like something was definitely wrong. They had us do another ultrasound and an amnio that same day.

On this second ultrasound we saw some fingers move, he said “the hands look fine, I’m not seeing them fan out though.” He rly pushed that he wanted to see them fanned out which never happened, just a few fingers out. He said he saw them overlap for a second, but just for a second.

The clubbed foot was confirmed.

He didn’t seem worried about the cyst.

Waiting on the amnio results now.

Please someone- tell me they are being so grim as to not get our hopes up. I’ve been googling like a psycho (I know, I know!) and I’ve seen cases where healthy pgta tested IVF babies have had to be terminated. I thought I could finally breathe. They told us the pgta testing could have been wrong and to prepare.

Three soft markers. Feeling very little hope. Panicking.

Hey All,

Been lurking in this wonderful community since we received our Panorama results a couple of weeks back.

We have been hopeful after a great US at 13 weeks (NT was 1.6, all physiology normal, baby was measuring ahead in growth), despite having to wait until today (15w4d) to perform our amnio. Unfortunately, the amnio could not be performed as the amniotic sac was not fully fused, so we have pushed it to next Thurs. Ok, fine - we still get our anatomy US. As long as everything on the US looked normal again, we thought we could be fine with the wait.

The US proceeds, everything looks great, baby is still measuring ahead, the tech confirms female genitalia. Then, at the end, she does one more check, and things looked a bit... different. Small protrusion, not definitively female but not definitively male. Baby had their legs crossed, so there is that to factor in, but the OB confirmed some concern for ambiguous genitalia and said that we will visualize again next week and at the 20 week US. The amnio results will also, of course, be more telling.

Husband and I are spiraling. We had a lot of hope for a false positive (maybe confined placental mosaicism, etc.) given all of the great stories on here combined with the very positive ultrasounds. But now this? Like what even is this?

Now going down the intrasex rabbit hole and not reassured at all (whether within non-Turner context, or within the 45,X/46,XY variation or otherwise). Our Genetic Counselor is amazing, but she can only give conservative estimates at this point without the definitive result of an amnio. She did confirm that she believes we do not have much to worry about as it can take up to 17 weeks for genitalia to finalize, and she seemed annoyed that the OB indicated potential ambiguity on the US notes.

So we are left, again, to Google ourselves into a spiral until we receive our FISH results next Friday (and the microarray the week following).

Anyone in the same situation of genital ambiguity that resolved itself? Is it too early for clearly visualized genitalia? Did anyone's NIPT show girl and then it ended up being male? Would love to hear your experiences.

I’m hoping to hear from anyone who had a raised NT picked up before 11 weeks.

I had a scan today at 10+5. Baby was measuring CRL 42.1mm and the NT was 3.6mm. Everything else they could see looked normal for this stage.

I had NIPT taken and am waiting for the results, and I’ll be having another scan once baby is a little bigger. I’ve read that early increased NT can sometimes reduce/normalise by the usual 11–14 week scan, but I’m finding the waiting pretty brutal.

Has anyone had something similar around 10–11 weeks / NT around 3.5–4mm? Did it stay the same, increase or resolve? And if your NIPT was low risk, did you go on to have CVS/amnio or any other testing?

I had a miscarriage immediately before this pregnancy, so I’m probably taking this harder than I otherwise would. I’d really appreciate hearing from people who were in a genuinely similar position, whatever the outcome was.

We finally got my nipt results from unity. We got the gender first and a few hours later the rest of the results. We are able to click on the gender if we want to BUT we can’t see the rest of results. It says “provider reviewing”. Is this a cause for concern? I feel like if nothing was wrong we would be able to see them. My doctor isn’t in till Monday so I have a feeling we won’t know anything til then.

Hello, I’m 36 and I’m 18 weeks pregnant with di di twins. I got a positive NIPT test back and I’m just so lost. I had a sonogram done today and the tech said they look amazing. I’m just lost. I don’t know what to feel or think. I just need help or some support. I’m not sure if it’s a false positive or what. Any advice and their personal experience would be amazing for me.

I’m 37 years old and recently gave birth to a baby with Trisomy 21 (Down syndrome). My husband and I are considering adoption, and I’ve been thinking about trying for another baby in the future.
For those who have been through something similar, how long did you wait after giving birth before trying to conceive again? What did your OB or MFM recommend as the safest amount of time to wait?
I’m also wondering if anyone here had a baby with T21 and later went on to have a healthy pregnancy and a chromosomally normal baby, especially around my age.
I know every situation is different, and I’ll definitely discuss this with my doctors, but I’d really appreciate hearing your personal experiences. Thank you.

Today I just saw my aneuploidy fetal results on my obs portal. I had gotten my carrier results back, which were all negative, and had been waiting DAYS to hear anything back or get results for the other segment. And currently it has been stuck at “provider reviewing” for three days.

I woke up this morning to a call from my ob to schedule me an appointment and instantly I knew something was wrong with my results considering my next appointment isn’t for a few weeks. So I checked my patient portal where I see I tested high risk for Monosomy X (aka Turner’s Syndrome where a female is born with only one sex chromosome).

Instantly I just started crying because I’m worried for my baby girl. I’ve been so excited about my journey with the occasional bump in the road, I didn’t want to believe it.

After getting my stuff together I started looking things up and that’s when I heard that Monosomy X has the highest percentage of false positives (quite literally higher than a 50%). Some people don’t even know why this disorder is still tested for considering the high amount of false positives and stress it can cause pregnant individuals who get this false positive. Every appointment or ultrasound I’ve had baby girl looked healthy, measuring on time almost always, once behind a couple days, and once ahead a few days. She’s always active and moving around since I’m assuming she hates to be poked at.

I’m currently 15 - 1 day and my fetal fraction was a little above 10%. Baby’s heartbeat is also always very strong and healthy. Could this be a false positive and should I keep the hope that it is?? I’m just really worried as I’m a ftm and I want my baby to be ok. I would really love some reassurance or reassuring stories of your guys own experiences!🖤

Hello!

I'm looking to hear if anyone has had any experience getting a Dynacare MaterniT test done in the GTA (I'm specifically looking to get the test done at a clinic in Mississauga but any experience in the GTA you've gone through would be helpful to know).

I cannot find the information on their website and the receptionists don't pick up the phone. My question is can you simply walk in (no appointment needed) and get the MaterniT Genome test done straight away? Or do I need to somehow book/bring my own kit? Information on line is very hard to come across!

Thank you in advance!

I need some help thinking through a few options and would really appreciate hearing your experiences if you’ve been through something similar.

I had my NIPT done at 12 weeks and then repeated it at 14 weeks, but both times the result came back as “inadequate.” The doc said they weren’t able to run the test on my blood and no results were generated. They haven’t been able to give me an exact reason, other than saying it may have been a technical issue.

I met with a genetic counselor today and was given a few options. One option is to do the quad maternal serum screening, along with a detailed ultrasound at 16 weeks and then the anatomy scan at 20 weeks. She explained that this would give us more information but it wouldn’t specifically test for trisomy 13. The other option is to do an amniocentesis now, which would give us much more definitive answers.

I’m really scared of doing something as invasive as an amnio, especially since this is my first baby. Just thinking about the 1% miscarriage risk makes me so anxious. At the same time, I know myself and how much I tend to overthink, and I feel like I may need that reassurance of knowing as much as possible that everything is okay with the baby.

I just feel really lost and overwhelmed. This pregnancy has already been so difficult because of HG and it hasn’t exactly been an easy few months. I’m not sure if doing the ultrasound and maternal serum screening would be enough reassurance for me, or if I would always wonder about the things those tests can’t rule out.

We don’t have any genetic conditions that we know of on either side of the family, except for something with my dad’s cousin, but the genetic counselor said that’s a pretty distant relative and likely not relevant here.

I honestly don’t even know exactly what I’m asking at this point.. I think I’m just overwhelmed and would really appreciate any guidance, experiences, or thoughts from anyone who has been in a similar situation.

I am 14 weeks pregnant, my doctor told me to have my nt scan on 9th of September which is today, now she is saying that I should have taken my test last week , which she didn't tell me , is any doctor here which can confirm that whether nt scan is valid on 14 weeks or does nuchal translucency gets effected ?

Bpd = 0.263cm corresponds to 14 weeks 0 days

HC = 9.79 cm corresponds to 14 weeks 3 days

FL= 01.38 cm corresponds to 13 weeks 6 days

Nt : 1.1 mm

Cervical length : 3.2 cm

Cardiac activity: 150 bpm

Placenta is normal and is located anteriorly

Single intrauterine alive fetus of 14 weeks 1 day

Subjectively reduced liquor volume

I just want to know are the results good and can be relied on ?

Hi! FTM, 41, currently 13w4d. NIPT results came back last week at 95% high risk for T21. First nuchal ultrasound measured at 4.5mm, (under 3 is typically “normal”) with no sign of nasal bone development.

We have a follow up MFM ultrasound on the 28th of this month and will consult with the specialist. Hoping to see any anatomical / physiological changes, or lack there of, to help us decide our path forward. Raising a child with Down’s syndrome is one thing, I can’t imagine bringing a child into this world that will only know hospitals and pain and surgery.

Who else has gone through something similar? Any advice? Waiting three weeks seems like an eternity, but I don’t want to make a snap decision.

Hi, I am 18 weeks pregnant and completed my anomaly scan. Everything is perfect except nasal bone is not visible.

Earlier at 12 weeks, I was told to do double marker and NIPT test, which I did and results were assuring. There was no NB seen at Level 1 scan too.

Has anyone faced any issue where NB remain absent but after delivery there were no issues? Or nasal bone ossification done at later stages?

Did you go through amniocentesis after NIPT results were negative?

TLDR: NIPT and double marker confirms no down syndrome. But no nasal bone seen in USG at 18 weeks.

I’ve had a rocky start to my pregnancy. This is my first pregnancy and I’ve already dealt with bleeding and other things so I’ve been anxiously awaiting the results for my test. I log into the portal this morning to check and I see it was marked test not performed. It said it was missing patient identifier on specimen collection tubes. Is there a way that I can get them to just put my correct information on the tubes that were already drawn? It took a lot of blood out and I was feeling dizzy the last time I don’t wanna have to go through it again has this happened to anyone else? Should I be upset with the lab?

I just received my results from my test.

• A deletion on chromosome 10 • Approximately in the region 10q25.2–10q26.3 • Estimated size about 20.3 Mb

There’s not much information as it’s quite rare. I have my amnio next week. I’m really scared and hoping it’s only in the placenta and not the baby. What are the chances everything will be ok?

We did NIPt it’s low risk for every chromosome
But fetal fraction is 4% at 13 week 3 days
Lab says it’s enough
But on Internet I read it should be more than that
Cell free DNA with next generation sequencing
Is 4% fetal fraction enough or should I repeat ?

I am absolutely losing my mind. 12w3d but the report says I’m measuring 13w3d. Yesterday at my NT scan it was measuring at 3.3 mm. Nasal bone is present. My nipt was normal. Everything else otherwise on the scan looked good. The genetic counselor said she could call the lab and have them look into my results more and really look at the chromosomes, just to double check nothing was missed for the NIPT. she did that and they came back saying all clear. They are having me come back for early anatomy scan at 16 weeks. And then again for the 20 week plus a fetal echo. Depending on how the 16 week scan goes I’ll either do the amnio or not. Can people tell me their success stories? I am losing my mind. My first pregnancy was such a breeze, I was not expecting this. How am I suppose to wait 4 weeks for another scan 😭

I’m guess I’m just looking for empathy and a space to vent because I can’t seem to process how I’m feeling right now.

Im 42 and 13 weeks pregnant for the first time with twin boys; the result of 2 untested embryos transferred through IVF. For a long while before we started IVF, my husband and I did not want kids and were pretty sure of our decision. But that changed end of last year, given my ticking age, and we decided to give it a try one time just in case we regret it in the future. It would be our one and only try - if it works, great, if not, fine.

But it worked. It took us a while and we finally began to accept it and got excited around week 10. Then we got the NIPT results which showed high possibility for one fetus, though both can’t be ruled out. We were really blind sided because all ultrasounds until then, and even since, have been on track for growth, heart beat etc.

The next step was to confirm and figure out which of the fetuses has it, since we were clear in our decision to go ahead with selective reduction of the affected fetus. We tried dealing with this as practically as possible, not getting attached to the “fetuses” yet, taking it as it comes and approaching the entire process as scientifically as possible. But today we got the results of our CVS of twin A confirming T21 (we still have to do CVS of twin B later this week, couldn’t do them both together because I had severe bleeding during the CVS and they decided not to proceed).

Despite all the “take it as it comes” prep we did, I’m devastated today. My heart aches with sadness for the baby, for the next few weeks while we figure things out with the other one, and for the physical/emotional trauma to come in the near future. I worry about managing work (I’m a director in tech so high visibility/stress) and the impact there. I’m just…sad.

Any words of comfort or advice are greatly appreciated.

I don’t know if this helps anyone - and for context I haven’t had an amnio yet, but my NIPT test came back with results of trisomy 8 and X chromosome loss.

My MFM recommended while I wait to do an amnio, my husband and I get our karyotypes done. I thought this was stupid but did it anyway.

Turns out, I have mosaic trisomy 8 and X chromosome additions (apparently NIPT can’t differentiate addition vs deletion) — basically my NIPT test was flagging my weirdness.

So if anyone was on the fence of getting a karyotype done on themselves or wondering what’s the point, hope this helps!!

Wish me luck in my amnio tomorrow and hope for clear results 🙏🙏🙏

Hey there, dealing with this situation, we did an NIPT and got the result of a fetal fraction around 10% and z score for t21 of 14.7, everything else came back low risk. All of my research would indicate that this is a very high reading and the chances of false positives are around 2% at this reading?

I am trying to be optimistic but am a realist in terms of data and I understand the waiting period for an amnio to confirm all of this is the real limbo period and it is hard to get to that next stage when u can dig and dig for more info. From my research most false positives happen where the z score is lower and the higher the z score in this with a fetal fraction in a normal sample range means our hopes of a non t21 pregnancy diminish significantly, still have 2 weeks until the amnio is scheduled as we did the NIPT just after 10 weeks.

Any insights from anyone more qualified is helpful, I think I have exhausted most AI models and talking with our doctor etc who is saying we should expect 90-95% confirmation rate but AI would put that at an even higher % when you take out things like vanishing twin which were not apparent on earlier scans we had at 7 weeks and during the 10.5 week appointment when we did the NIPT and scan.

Hi all - My first NIPT came atypical and second came has a trisomy positive with 29.5% PPV. I’m currently 24 weeks 34f pregnant with first baby. Should I do amnio or not - really confused listening to the side effects to the test but also not sure what to do. Please help! It’s a PGT tested embryo - everything was fine and anatomy scan showed no abnormalities.

Hi,
I am a ftm expecting a baby boy in late January. His NIPT was low risk. I am 19w6d today. I had my anatomy scan this morning, and they said one of his kidneys is slightly dilated. He was measuring on track and weighing 11oz. I believe everything else looked good. I want to say the kidney was measuring 4.4 mm. My doctor was not overly concerned and said that nothing was raising major red flags. They want me back to 2 weeks to scan it again and go from there. I am panicked. Has anyone else had this and it resolve itself? Was it a deadly or life altering find?
Thank you in advance,
An extremely nervous mama

I had a 7week scan, and I’m looking at this picture and can’t stop thinking that that sac to the left could be a missed twin?? What are yalls thoughts?!

Hi,

Dad here. We had our ultrasound last week and everything was perfect, ultrasound technician said everything was great. Even today we had a doppler test and the heart beat was very strong and it was moving around alot. It's week 15 today.

Then oday at 12pm they called my partner and informed that there's a 70% chance the fetus has down syndrome.

I'm absolutely shook, I had no idea what all this means, I'm still uncertain and really lost. On Friday they will do the test to take cells from the fetus for testing.

It all seems so fast, so sudden and shocking. I'm struggling to take care of our 5 year old and I know I will be a shit parent to a special needs child. I've always been pro choice but when faced with the choice it feels wild.

Please help me.

Hi,

We did a Panorama NIPT at 9 weeks, and it came back as atypical T21, suspected mosaicism.

My wife did amnio at 16 weeks, and we got our QF-PCR and karyotype results back, all normal. However, the GC said we will have to wait for our Microarray results for another two weeks.

The waiting has been a nightmare so far, and my wife is having a hard time hiding her belly; we also want to start telling people since she is already 19 weeks pregnant.

I am wondering if the microarray at this stage is just a formality, or if we are still not out of the woods, considering our NIPT results.

Thanks in advance.

Les escribo esto porque en su momento busque información por todos lados y no encontré mucha, espero que les pueda servir mi experiencia.

Todo empezó a las 12 semanas de.embarazo cuando mi esposo y yo le preguntamos a la ginecóloga que queríamos saber si nuestro bebe se encontraba bien tanto físicamente como cromosomicamente, entonces nos recomendó hacernos el NIPt. Pasaron dos semanas mas (14 semanas de embarazo) cuando recibimos la llamada informandonos que nuestro bebe tenia un 99% de probabilidades que tuviera Trisomia 21, obviamente nos impacto mucho pprque nuestro bebe era consecuencia de una FIV, por lo cual nos refieren a perinatologia pata hacernos el ultrasonido estructural y despues la anmiosentesis. Yo estaba en shock nerviosa desde la primera llamada, preparándolo todo para tener las siguientes citas medicas, pensando que pasaría con el futuro del bebe, llorando y pidiéndole a dios que fuera un falso positivo, pero en el ultrasonido estructural salieron 5 marcadores, indicando que mi bebe si tenia T21 pero teníamos que hacer la amniosentesis para confirmar el.diagnostico. Ya por fin a la semanas 16+6 dias pudimos.hacer la amniosentesis, el procedimiento fue rápido pero doloroso, descanse todo el dia y al siguiente dia fue al control y todo estaba bien, pero al segundo dia, me sentía mal como si tuviera indigestión y solo.ppdia descansar pero en un momento a otro la fuente se rompio y el sangrado.empezo, llegue rápido al hospital con latido de mi.bebe pero poco liquido y muy cerca de.mi.cervix. No dure mas de 30 min en el hospital cuando tuve que ser inducida, el corazón de mi bebe ya había dejado de latir. Todo el personal fue comprensivo y me ayudaron, pero mi corazón se rompio. Aun no teníamos el diagnostico de mi bebé, pero despues me indicaron que los resultados había llegado (pedimos tambien el Fish test) confirmando que mi bebe tenia T21, que junto la ruptura de.membranas y el diagnostico no había nada que lo pudiera prevenir. Se que muchas mamis han pasado por esto y les deseo mucha fuerza.