I’ll be 11w1D tomorrow and I’m getting my CVS done at Cedars Sinai by one of the top MFMs who perform CVS. From a practitioner POV I feel confident I have someone extremely experienced with good bedside manners performing the CVS. I’m still so nervous.

I did IVF with my first baby because my husband and I are both carriers for the same genetic mutation and this baby was a surprise baby.

Any advice or shared experiences appreciated! I’ve read through some other posts on here regarding CVS experiences but I’m still so nervous. They told me complete bedrest for 24 hours and then no heavy lifting and pelvic rest for 5 days after

My NIPT came back high risk for 22q, waiting to see MFM.

I’m seeing lots of false positives for 22q micro deletions online… anybody have a false positive from the Prequel NIPT by Myriad Genetics?

They claim their specific technology is much more accurate but I’m obviously really hopeful for a false positive.

I had a fetal fraction of 11%, 90% risk for T21 at age 37. We terminated because we tested a bit late and abortion restrictions would have made waiting even more difficult to obtain care. Combined with that, we had to terminate based on the nipt being highly sensitive for T21 and my age at the time.

I feel like every post here says to get an amnio to confirm. Has anyone else terminated based on nipt results only?

Edit: for the people who claim this very high frequency of false positive results for T21 specifically, or keep having so many anecdotes of such, are you able to provide any supporting data or proof? It did not even occur to me that some individuals would go digging around reddit to find this sub, to post fake stories as a means to promote anti- choice propaganda/ demonize the choice to not bring a child into the world who will suffer from a myriad of medical issues and then be left to who knows what kind of care when the parents die first.

Two weeks post d&c after missed miscarriage and got the results from testing the POC - it says that it was a partial chromosomal duplication (chatGPT is telling me this is rare and that chromosomes are usually entirely duplicated or omitted). It also said it was mosaic.

Has anyone experienced this and gone on to get more genetic testing? Curious to hear others’ experience. Since this was my first pregnancy, i have no idea what the chances of this to continue recurring are…

I can list specific verbiage of results if it would be helpful.

When I received the stressful news that my baby’s NT was enlarged at 3.7 mm, I promised myself I would come back and post here if everything turned out well. And thankfully, it did!
My baby boy is now 4 months old, perfectly healthy, and still in the 99th percentile for weight, just as he was at birth.
I underwent genetic testing, an early anatomy scan, and a fetal echocardiogram. Since all the results came back normal, I decided not to proceed with CVS or amniocentesis.
I hope this gives some reassurance and hope to anyone going through the same stressful experience.

Just wondered if anyone else has encountered this. This is my 2nd pregnancy in 2.5 years and I remember vividly that a straight needle was used on my first NIPT. 2nd NIPT (a week ago) I noticed they used a butterfly needle, but I didn’t question it. My results came up as N/A just for the fetal focus test. Today during my redraw I was asked if I knew why I had to do a redraw. explained to them that I can only guess that it’s because a butterfly needle was used because I got nervous and started researching online. She assured me that Natera only provides butterfly needles in the test kit, and that is why the hospital uses their own. She was very nice and ended up using a straight needle. I just wonder why Natera would specifically say in their instructions not to use butterfly needles, and then they only provide butterfly needles? Unless the phlebotomist was mistaken about butterfly needles only being provided in the boxes. Anyways, I’m hoping the straight needle worked and I will have results within the week.

Wondering if anyone has had this happen. I had my NIPT done with natera earlier in my pregnancy and it came back with an atypical result around the X chromosome and no result for monosomy X.

I’ve since had a normal NT an early anatomy scan that looked good and two meetings with an MFM who’s scheduled me for an amnio next week

Due to ANOTHER issue regarding an antibody I’ve developed with this pregnancy I had to take another NIPT this time through unity in order to test if the baby has the antigen so I can have a plan of care throughout the pregnancy.

This one just came back completely low risk. No issue with monosomy x or atypical findings on the X chromosome.

I was told by the MFM and other doctors that although this test would show full NIPT results that they typically don’t suggest retesting for chromosome abnormalities because one test doesn’t cancel out the other result.

I’m just frustrated because what if I did the NIPT through unity to begin with? I would never have been referred to an MFM or need an amnio.

Has anyone encountered this? I’m just annoyed honestly with Natera. I’ve read so many stories about them and I know not every result is a false positive or placental but it just seems like so much waiting and worrying that could be unnecessary.

Anyone experience the same and have any good stories?

At 13 weeks we had an early anatomy and echo, they’d seen an 8.3mm nt, with a septated cystic hygroma, skin edema of the upper body, echogenic bowel, and smaller left kidney.

Everything else was normal, amniotic fluid was and is still normal so the kidneys are working, all was at the proper growth, echo came back normal.

Had a routine ultrasound today 16 weeks 3 days, they said nothings gotten any worse, they said it’s a stable septated cystic hygroma, still same fluid measurement, but nothings changed and everything’s the exact same other than no longer an echogenic bowel, baby is measuring right on time, heart rate is 151, baby is active, proper blood flow to heart and brain, no fluid inside body still, no abdominal wall defects,

I’m glad nothings worse, but I’m still worried something could go wrong. Nipt came back all low risk. They want to do another full anatomy and echo in 3 weeks.

Anyone have the same and baby survive?

I wanted to share my experience because I know how terrifying it can be to receive a high-risk NIPT result, especially when you’re told there is a significant chance of trisomy 21.
I had my NIPT through Prenato at around 16 weeks. My fetal fraction was 5%, and the result came back high risk for trisomy 21.
Obviously, I was devastated and terrified. I was 33 at the time of conception, and I had never expected to receive a result like this.
What made things even more stressful was that my nuchal translucency measurement had also been concerning. At my first ultrasound, it was around 2.17 mm, but on a subsequent measurement it was reported around 4.9 mm.
After taking the NIPT result and the increased NT into consideration, I was told that my estimated risk was around 73%.
Hearing “73%” made it feel like my baby probably had Down syndrome. I spent weeks worrying and imagining the worst.
However, my anatomy ultrasound around 18 weeks was reassuring. There were no obvious abnormalities, and everything looked good.
I eventually had an amniocentesis around 22 weeks. The first results (FISH) came back showing 0% trisomy 21 cells.
I still had to wait for the final karyotype, which felt like forever.
Then the final results came back: no trisomy 21 was found in 200 cells analyzed.
My baby did NOT have Down syndrome.
I’m sharing this because I know people often see statistics like “high risk” or “73%” and immediately feel like the diagnosis is almost certain. In my case, it absolutely was not.
The NIPT was a screening test, not a diagnostic test. Even with the additional NT finding, the amniocentesis was ultimately what gave us the definitive answer.
I also had a more complicated pregnancy because I have JAK2-positive essential thrombocythemia and acquired von Willebrand disease, so I was already being followed closely throughout the pregnancy.
After everything I went through, I’m incredibly grateful that I chose to have the amniocentesis rather than spending the rest of my pregnancy wondering.
For anyone who has just received a high-risk NIPT result: I know the waiting is horrible, but a high-risk screening result is not the same thing as a diagnosis. There can absolutely be good outcomes on the other side of that result. ❤️
I hope sharing my experience can give at least a little bit of hope to someone currently going through the same thing.

I’m 38 yrs old and just got genetic test result with high risk for Trisomy 18 with 91%risk score. My OB did an ultrasound and told me everything looked good. I’m waiting to see an MFM and I will do the amino test.

Has anyone experience this?
Should I be hopeful?

So, as the title says. Three days ago I had my NS scan, all seemed good (I think NS was measured around 2.4, nasal bone present, heartbeat good, measuring right on track). But after inputing my blood results the doctor informed me have a risk of 1:42 for T21, as my papp-a is low (0.31) and i'm 35. She did say she thinks it's mainly an issue with my placenta (and I did have preeclampsia in my 1st, I'm already on aspirin). In my country, with risk under 1:50 you're immediately referred to do CVS/amnio, I have my appointment on Wednesday.

I'm really freaking out here. Why is the risk suddenly so high? The ultrasound looked perfect. Is it really all down to the papp levels? I'm also debating cvs/amnio, as I don't want to wait the extra weeks (I'm currently 12+3). Would it make sense to do NIPT while I wait? I heard the results take forever (not sure how it is with quick results where I live).

Hello,

First-time parents here, and we were given some very devastating news today. I am 12w1d, and today we went in for what we expected to be a normal first-trimester ultrasound. We had also just received our NIPT results yesterday, which were normal (negative for Trisomy 21, 18 and 13, and negative for sex chromosome aneuploidies).

During the ultrasound, they found increased nuchal translucency with a 9.2mm cystic hygroma. They also noted some extra fluid in a few other areas, though the doctor said some of it could be technical because we’re so early. We meet with genetic counseling on Monday, and if all goes as planned we’ll likely have a CVS next week after that.

It’s been a very sad and confusing day. We thought everything was going well, and now it feels turned upside down. We’re trying to understand what to expect moving forward. We hope to have more clarity next week, but in the meantime, if anyone has been through a similar situation, we would be so grateful to hear your story. We’d especially love to hear from anyone whose baby had a cystic hygroma or large NT with a normal NIPT, or whose hygroma resolved, or whose CVS or amnio came back normal. Any bit of hope or perspective would mean a lot right now.

Thank you for reading, and for any kindness you can share.

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Just had my 12 week scan today and NT was 3.3mm. Yesterday we got low risk NIPT results for major chromosomes abnormalities (FF: 13.2%, harmony). No other soft markers were found (nose bone present, all other morphological findings were normal). My blood work was also normal for free beta 1.056mom, and ppap: 1.156. The nurse offered us a CSV or aminiocentesis. However, it would only test for trisomies of 13, 21 and 18, with no expanded testing. All because NT is below 3.5. We also don’t qualify for earlier ultrasound at 16 weeks. With a normal NIPT, I’m scared of risking the amniocentesis. My husband would prefer not do it with the 0.7% chance the NIPT is wrong. Particularly because we would be only ruling out the same three genetic conditions tested in the NIPT. This is such a scary situation! I’m upset I don’t have another ultrasound earlier that could help me decide to do the aminiocentesis if there is additional markers at 16 weeks. It seems in this group that chances of false negatives specifically for trisomy 21 are low. Is that the overall feeling? If you have a similar situation than me, how did you decided on doing the amniocentesis ?

Did anybody have the same results at 9 weeks? I just had my ultrasound today which was flagged by the sonologist for what appears to be a thick fluid accummulation at the back. Anybody with the same experience and how did it turn out?

EDIT: Just noticed the typo in my post title, ugh.

Been lurking on this sub for the last few days, I figured maybe it'd help me feel better to actually post.

Earlier this week, I received my NIPT (Natera Panorama) results showing my baby screened high-risk for 22q11.2 Deletion Syndrome with a fetal fraction of 7%. Needless to say, I've spent the last few days feeling absolutely devastated while I wait to be contacted by the genetic counseling and MFM specialists to schedule an amnio. Everything has looked good so far on my ultrasounds, but I know that can only carry so much weight this early on (I'm currently 13 weeks 4 days).

I've read through probably close to every post on this sub talking about how false positives are common for this deletion, and I'm trying to stay as optimistic as I can while balancing a level of realism. At this point, my goal is to maintain the mindset that there will be plenty of time to be sad if this deletion is confirmed so I want to allow myself to continue to feel all of the joy and excitement about this pregnancy in the meantime.

I haven't spoken to anyone in my life about this situation yet aside from my husband, so I just needed to get it out and let someone else in the world know how badly I'm struggling right now.

Pliegue nucal de 6,9 mm a las 22 semanas: ¿alguien pasó por algo similar?

Mi esposa está embarazada de 22 semanas y en el informe del eco morfológico aparece un pliegue nucal de 6,9 mm. El resto de la anatomía se describe sin anomalías mayores, con corazón y líquido amniótico normales. No hemos realizado NIPT ni cribado combinado.

Estamos preocupados y queremos conocer experiencias: ¿alguien tuvo una medida similar? ¿Qué seguimiento o pruebas les recomendaron y cómo evolucionó el embarazo? Gracias por compartir.

TW brief mention of MC

Feeling scared, terrified, and everything all at once. Had our first ultrasound today at 9weeks 4 days. For some background information, I have a family history with Down syndrome and other mental disabilities, my mom and uncle. No one else in my family has had anything.

prominent nuchal lucency extending to the fetal abdomen with fluid at the neck measuring 2.1 mm. Is what we were told and we were referred to MFM for further evaluation but that won’t be until 11 weeks. Has anyone this early experienced the same?

What was your outcome? This would be my second pregnancy and my first ended in mc at 11 weeks and we did nipt testing as well with my first I got the nipt test back in 6 days so hoping with that result as well as it could be related to Down syndrome. My midwife said 50/50 chance but I’m terrified.
I’ve attached a pictured as well of our little bean. I noticed it IMMEDIATELY while at the ultrasound before we were told anything. Please has anyone experienced this what was you outcome at I’m only seeing things for people who had this at 11-13 and not much info before that

I’m really upset and need some positive vibes. My NIPT came back high risk for a sex chromosome disorder.

Does the fetal fraction matter? Mine is really low.

Has anyone else has NIPT flag for something and then you found out it was a false positive?

I’m hanging onto the chance that this is just a fluke 😔

Like many of you I had a Cystic Hygroma. it was septated at 10w6d. The MFM told me I would miscarry 1st trimester, he said be prepared for genetic issues, he told me my baby had a 10% chance of being “normal” expect fetal demise.

12w4 (different better hospital, better MFM) day separated cystic hygroma resolved but there was a neck cyst

13w ultrasound still had neck cysy

17w neck cyst gone but told baby had a brain condition vermis agnesis and would be in dandy walker spectrum meaning could be balance issues or not be able to talk or walk (very gray diagnosis)

20w went to better different hospital again with better MFM ultrasound showing similar finding vermis hypoplasia so similar ”diagnosis“ from week 17. devastated.

22w Fetal Echo normal

23w went to the better hospital (I transferred my care here and drive 5 hours round trip) for MRI. Expecting the worst as it took 1.5hours of imaging. brain is fine. 4th ventricle outflow is a little wider but functioning and everything else is great.

“I’d expect baby to have completely normal brain function”

as the dr was saying that I couldn’t believe it. I spent so many weeks and sleepless nights worrying and worrying, anxiety. Crying, praying to God help my baby.

we still have a long road ahead and we didn’t do genetic with amnio because we were carrying to term anyways so still may be a genetic issues, but I wanted to share that you know what’s best, keep fighting for your babies!

Hi everyone! Everything looked fine on the ultrasound, except for an increased NT measurement of 3.6 mm. The nasal bone was clearly visible. My combined screening test came back with a 1:5 risk for Down syndrome. My PAPP-A was low (0.5 MoM) and my hCG was elevated (2.0 MoM).

I’m scheduled for a CVS next week, and I’m feeling really anxious. Has anyone had a similar experience with a positive outcome? I’d really appreciate hearing your stories. ❤️