r/NIPT

▲ 4 r/NIPT

High risk NIPT T18/ amniocentesis side effects

I'm not sure what I'm looking for here but I guess I want to vent and see if anyone has had similar experiences and had a positive outcome they could share. 

I'm currently 15+2 weeks pregnant. Both my husband and I are 42y/o and been trying for baby no 2 for the last 3 years. 2 miscarriages in that time and one termination for Trisomy 21, 2 years ago.

Had a scan at 13 weeks and baby looked perfect. No enlarged NT etc. I was offered an NIPT on the NHS at that scan due to my down syndrome diagnosis 2 years ago. 

A few days later my heart sank when my husband and I received the call we were hoping not to get again. Baby is high risk for Trisomy 18 this time. 

Fast forward 2 weeks and and excruciating wait for an amniocentesis. I had this done yesterday and all went smoothly, however 4 hours later I felt a gush and started leaking clear fluid which turned out to be amniotic fluid. I have been admitted to hospital and was scanned. The doctor could see that my amniotic fluid was reduced but said there is a chance the membrane that was broken could repair and the fluid will have a chance to regenerate over the next few days. However of course there's also a chance that it won't and then will be faced with the reality of another termination due to an environment which baby can't survive in. 

So I'm here now in hospital, waiting for my amniocentesis results as well as to check that my amniotic fluid starts to build up again. Also the hope that I don't get an infection that would affect baby and I. 

I'm so disappointed. I really thought this little baby was going to be the one I could bundle up and bring home to be part of our family. 

I'm trying to stay as positive as possible and tell myself there is still a chance this all works out. But if course in some moments this feels completely hopeless. Any words of wisdom or comfort welcome. 

Thanks for reading. I'll update to post as things progress. 

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u/Temporary_Rip_832 — 8 hours ago
▲ 1 r/NIPT

Amniocentesis timing and risks?

Folks here who have had an amniocentesis: how far along were you when you had it done? What were you told about what's safe, timing wise?

I'm debating when to have my amniocentesis done after having a high risk result for 22q deletion on my Natera NIPT. (Original post here: https://www.reddit.com/r/NIPT/s/DXZHLRJw7s)

I have seen 2 MFMs just to get a couple of perspectives. One refused to do it prior to 16 weeks due to risks and scheduled it for 16 weeks on the dot. The other said it could be done as early as 15 weeks if the membranes have fused (he would verify this before performing it) and I was able to book with him for 15 weeks 3 days. I have to decide which of these I want to go with and cancel the other. I am currently 14 weeks, so I will decide next week and also get some input from my OB.

For any of the professionals on the sub: is there any significant risk difference here? Would it be much safer to wait 4 days? In my mind, getting answers a little sooner is a huge draw of the earlier appointment, but I don't want to trade that off for way more risk of miscarriage. I'm really struggling with the unknown. Terrified, really. I just want answers so we can know what the facts are and decide what comes next. All the what ifs are killing me.

I'm also interested in any preparation tips for the process and/or recovery. I'm so nervous, though I know the risks are low. I just want to do all I can to have a safe procedure and recovery.

Thanks to all contributors in this sub. It has truly helped me through all of this, and will continue to be a source of comfort and solidarity in the weeks to come. I've read every 22q story multiple times trying to understand what we're facing.

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u/rhododendron_ — 18 hours ago
▲ 1 r/NIPT

Extrem auffällige NT - gesundes Kind?

Hallo zusammen,

wir sind gerade in der 18/19w schwanger und warten auf die letzten Ergebnisse der Fruchtwasserpunktion. NIPT, FISH, Chromosomenanalyse (Karyotyp) alles unauffällig. Das Herz ist bisher auch unauffällig sowie alle anderen Organe. Wachstum alles ok. Der einzige Marker ist eine extreme NT.

12w - 13,3mm
15w - 9,5mm
18w - 5,3mm

Ich lese oft NT von 3-4mm, wo man besorgt ist. Sehr selten so auffällige NT wie bei uns. Kennt ihr ähnliche Erfahrungen?

Wir warten nun auf das Noonan Panel (Trio Exom) und hoffen so sehr, dass dieser auch unauffällig wird.

Vielen Dank

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u/JumpingJack6669 — 12 hours ago
▲ 2 r/NIPT

Anyone here have clear genetic tests after abnormal results but then went on to have anatomy issues?

At 9 weeks I was told that my baby had skin edema and thickened NT which appeared to be CH. Measured around 2.2. Fast forward to 11 weeks both had resolved. Since then my CVS, microarray, and kareotype have all come back fine which has been a huge relief as I’ve been incredibly stressed. Early anatomy scan also came back fine. I’m now at 17 weeks and waiting for my anatomy scan and fetal echo around 20/21 weeks. Has anyone been in my situation where everything was cleared and then they still structural/heart issues?

Although I’ve been feeling relieved, I’ve been guarding my heart in case something shows up. We have kept this pregnancy private from our families but it’s getting harder to hide and I’m just ready to share but scared that something’s going to come back wrong - it would break them and me too 😔

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u/cocoadams — 1 day ago
▲ 6 r/NIPT+1 crossposts

NIPT high risk, waiting for amnio and results

I know there are about a million similar threads but wanted to share my journey, as I have taken solace in reading these. I hope it will end up happy, with a false positive and a healthy baby but time will tell.

My husband and I lost our first ever baby at 6 weeks. I didn't expect it to devastate me as much as it did. It took the joy out of pregnancy and when we got pregnant a second time, it was a big deal just to reach the 12-13 week threshold.

That was supposed to be the moment we would share our pregnancy with family and friends. Instead, I got the call for the NIPT results. 78% high risk for Monosomy X, which was the worst possible way to learn we were having a girl. Ultrasounds have looked normal so far. NIPT was with a 16% fetal fraction, which is higher than a lot of people get.

So we're pretty sure it's there. The question is whether it's in baby or just the placenta. We are hanging on to that 70-80% false positive rate and trying not to hang our hats on that 78%, because it's measuring the placenta and because Natera's numbers seem inflated compared to other studies.

This is a very hard place to be. Today I had to dry my eyelashes with my blow dryer so I could get ready for work. I cry pretty much every day but try my best to keep my stress levels low for baby.

We have our amnio soon. We went straight to that after learning the CVS is all but useless in terms of an accurate confirmation. There is risk of miscarriage with amnio but it's reportedly low, and we need an answer to move forward.

If baby is full Turners, we will TFMR. We are not optimistic about mosaic. The research around the percent of mosaic is spotty, it feels a lot like a dice roll on their quality of life.

I hope to update this post soon with a happy result. Please keep my husband and me in your thoughts, prayers or whatever energy you can spare.

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▲ 5 r/NIPT

5mm NT

Hi, looking to see if anyone has had any similar experiences, either positive or negative. I will warn, I don't have anyone to talk to about this, so this may become very long-winded, as I really need to get this experience off my chest.

So, I'm currently pregnant and did IVF to become so. For 12 weeks, I took estrogen and progesterone and was released from my clinic and went on to visit my OB. My husband and I met with her, and she suggested I do a NIPT and a nuchal translucency ultrasound. I didn't really know what either of those were. Coming from the clinic, we only focused on getting pregnant. I hadn't really looked into what pregnancy would be like because I didn't want to be disappointed if I never actually became pregnant.

Anyway, I went to schedule the ultrasound, and they had an appointment the next day! Great! My husband wasn't able to come with me because it was so last minute, but I went.

Everything seemed fine, and the ultrasound tech was very friendly. Towards the end, she got very weird, but I didn't really pay her much mind. She also asked me to use the bathroom multiple times and moved my positioning a lot. She said this was just because she was very picky about getting good measurements. I thought nothing of it. Immediately after that, I was left in the room for a while, then brought by the ultrasound tech into another office. The woman behind the desk says to me, I think you should call someone. I was very confused by this. She said again, I think you should call someone, your ultrasound was not normal. I immediately burst into tears! I didn't know what was going on, but I just knew I had finally gotten pregnant after so long and really only had one day of enjoying my pregnancy without injections or pills or stress, and that day was over.

I called my husband, and she let us know that we had a thickened nuchal fold. Now, my exact recollection of this is quite fuzzy. I believe she said, in some places, it was as thick as 5.6 mm. I totally was out of it; luckily, my husband spoke with her, and there was a detailed report afterwards. The report said, at 11w6d, NT 5 mm. Again, from what I remember, this was an average of all the readings, but I really was pretty hazy at that point. The MFM that I met with said she would make an appointment with the genetic counselor for us so that we could proceed with a CVS.

Our meeting with the genetic counselor was jarring. For one, she revealed not only did we have a thickened nuchal fold, but we had bilateral cystic hygromas. That was never mentioned previously. When I did go back and look at the report from the nuchal translucency ultrasound, it did say that, though. She basically said that we only had a 30% chance of a healthy baby. That was very upsetting. We did get that number from the MFM as well, but it didn't feel as damning until it came from the genetic counselor. The genetic counselor also kept saying that she was expecting that the baby had Noonans syndrome because of my husband's advanced paternal age. That was upsetting as well.

We left with a plan to do whole genome sequencing.

We went and did the CVS, and it was very painful. I wasnt expecting that. They went in abdominally to get it, and it felt like I had been stabbed and the knife twisted. I really can't believe how painful it was. Many people online have said that it really wasn't that bad, so I don't know if it was just me or what, but that was traumatizing.

Right before the CVS, I was given another ultrasound. This ultrasound tech, for whatever reason, was able to interact with us about what she was seeing and what she thought. I appreciated that. I don't know what kind of advanced training she had, but I do think it may be better if ultrasound techs were given some additional training so that they can comment on what's happening and you're not totally blindsided.

Anyway, she said that the NT was down to 4.2 mm. This was at 12w1d, but the baby was measuring at 13 weeks. I asked her if the cystic hygromas were still present, and she goes, oh, well, I guess I see it, yeah, just barely. She also said, I guess it was 6 mm last week, and sounded like she was very skeptical of that.

Since then, we've kind of been ghosted by our genetic counselor. This is concerning to me, especially since I've seen two people on Reddit say that they do not recommend that people see her. She said she would call as soon as any results came in. We got our NIPT over a week ago, and the lab said that they sent our FISH results Tuesday, and we haven't heard from her. I called today and tried to schedule an appointment, and the receptionist was like, oh, you've actually seen her before, I'm not scheduling an appointment, I'll just email her and tell her to call you. No, I want to make an appointment. I want to know that I'm going to speak to her. WTF.

The nipt did come back negative. I expected that because it was a euploid PGT-A tested

So overall, I have some questions, if anyone has any insight that they can offer:

It appears that the NT can be done between weeks 11 and 13. I had two measurements taken between those two weeks. Which one should I rely on? The first one was very upsetting and damning, but had I not scheduled my appointment so quickly, I may have only had the results from the second one.
Now that I've done research, I'm kind of appalled that the genetic counselor kept saying she expected the baby to have Noonan syndrome. It seems that even with advanced paternal age, the chances of that are very low. Was it out of line for her to suggest something so specific when we had literally no information at the time? Am I being sensitive?
Has anyone had the Variantyx Irisight comprehensive? Did you see the results? Was it easy to interpret? I'm just not confident that the genetic counselor is going to reach out to us as soon as she has the results, and I don't want to be left hanging and waiting for her to understand what's going on.
Should I take the fact that the cystic hygromas and the thickness are going down as positive signs?
Has anyone else who had intensive progesterone at the start of their pregnancy experienced this thickness? I found a study online that said that progesterone can cause thickness early on.

I just feel so alone in this. I was planning on telling my family that I was pregnant next weekend. I had a big Mother's Day brunch planned, and now it feels too late to cancel it, but I don't want them on this sad rollercoaster with me, so I won't be telling them anymore.

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u/SatisfactionOwn3469 — 2 days ago
▲ 1 r/NIPT

NIPT fetal fraction was only 3% at 12 weeks 2 daya and now I’m spiraling. Please help!

My NIPT results just came back low risk and I found out I’m having a girl, which should make me happy and relieved… but instead I’ve completely spiraled after seeing that my fetal fraction was only 3% at 12w2d.

I made the mistake of Googling it and now I’m terrified the results might not even be accurate because the fetal fraction was so low. Everywhere I look people are saying low fetal fraction can be linked to problems, inaccurate results, placental issues, misscarrage etc. and I honestly cannot calm myself down.

What makes me even more anxious is that I’m not overweight, so I don’t understand why it would be that low. I’m 5’2” and around 115 lbs (BMI 20.8), so now my brain keeps telling me something must be wrong.

I’ve honestly been anxious this entire pregnancy and this just pushed me over the edge mentally.

Did anyone else have a fetal fraction this low around 12 weeks and still end up with accurate NIPT results and a healthy baby?

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u/mijaumijauvauvau — 2 days ago
▲ 8 r/NIPT

20w Anatomy Scan: Early-onset FGR, Short Femur (-3SD), and Mild Ventriculomegaly. Seeking experiences.

Hi everyone,

My wife and I just had our 20w2d anatomy scan and we are spiraling. The MFM specialist found a combination of things that they say are concerning for a "unifying genetic diagnosis," and we’re looking to hear from anyone who has had similar findings or been through the diagnostic process.

The Key Findings:

Fetal Growth Restriction (FGR): Estimated Fetal Weight (EFW) is 238g, which is in the 4th percentile.

Short Femur: This was the biggest red flag. The femur is 3 Standard Deviations below the mean (roughly the 0.1th percentile). There is also a discrepancy between the femur (24.5mm) and foot (30mm).

Mild Ventriculomegaly: The right lateral ventricle measured 11.82mm (cutoff for normal is usually 10mm).

Suboptimal views: Because of the baby’s position, they couldn't clearly see the heart, CSP, or placental cord insert.

The Good News:

Placental function is good: UA Doppler showed positive end-diastolic flow.

Amniotic fluid is normal: (MVP: 4.7cm).

NIPT was Low Risk: Our early screening came back clear for common trisomies.

The Situation:

The doctor was very clinical and immediately brought up the option of termination, which was a huge shock to us since we’ve already decided we want to move forward regardless of the diagnosis. We have zero family history of genetic issues on either side, so we’re struggling to accept that this might be genetic.

We’ve been referred for Genetic Counseling and a follow-up scan in 3 weeks to measure the long bones again and finish the anatomy.

Has anyone here had a combination of short long bones and mild ventriculomegaly? If you did an amniocentesis or microarray, what were your results? We’re trying to understand the range of possibilities—from "constitutionally small" to skeletal dysplasias or rare genetic conditions.

Any advice on how to navigate the next few weeks of waiting would be greatly appreciated.

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u/Pure-Ad3158 — 2 days ago
▲ 0 r/NIPT

Would you or wouldn't you?

Hello all! I just want your opinions and what you've done in a situation like mine. I am 2 weeks pregnant currently, I went through IVF with a fresh transfer so no PGT-A testing. I am really contemplating NIPT testing but also just a blood test for the gender. My husband has a half uncle (different father) who has a child with a who has autism and my mother has a sister who is also a half sister with autism (different father). Other than that our family traits are really normal. Nothing crazy or abnormal that would raise an eyebrow.

I also have very, very, very bad anxiety I should be medicated but with Gastric Sleeve medications are extremely difficult. So it is worth the stress that I know it would put me through? My husband has made it known before we started IVF that he would prefer to move to termination if abnormal results, but I've heard stories like PGT-A testing that the results could possibly be wrong. I also grew up very religious, while I'm not really now the thoughts still run through my head and make the decision difficult.

Could you handle this? Would you handle this if you had similar situation to mine?

Btw, our insurance does cover it, so I am not worried about that part. Knowing the gender would be an extreme plus but I could just get a blood test possibly as well.

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u/Blond3bunny — 2 days ago
▲ 3 r/NIPT

Positive outcomes with ~ 3 mm NT?

I just need some positive affirmation. A week ago I got my combined test result, which came back as 1:184 for Down syndrome.

All my other results were good — only the NT was high (3.1 mm). The nasal bone is visible, the ductus venosus looks good, and my bloodwork was normal. Everyone keeps telling me that the chances are still much higher that everything is fine, but I still have to go for an amniocentesis on the 19th of May, just to be sure.

How can I keep myself from going crazy until then?

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u/Junior_Priority5475 — 2 days ago
▲ 0 r/NIPT

Two Insufficient Fetal DNA in a row

Hey everyone. I’m currently 14 weeks and one day pregnant with baby measuring at 15 weeks. My nipt test came back twice with not enough detal DNA. I was tested at 10 weeks and two days and that came back with 2.3 percent and then I was tested at 13 weeks and once again.. 2.3 percent. The nurse i spoke with said it is too early and there’s “probably” nothing wrong. They want me to test one more time at 17 weeks with the same exact test (Natera) I’m a bit worried and was not feeling very reassured.

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u/Valuable-Living-7387 — 2 days ago
▲ 2 r/NIPT

NT 4.6mm at 11 weeks

hi everyone. I’m really struggling. I had a scan a few days ago and my baby is beautiful kicking around and moving but the doctor measures NT at 4.3 or 4.6mm I actually can’t remember. the doctor said shea never seen a baby be ok with an NT that thick. on Monday we go to the pre natal diagnostics clinic for another scan and a CVS. I am terrified. some of the posts on Reddit and online sources are still giving me a bit of hope but am I in denial?

thanks in advance for your support.

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▲ 1 r/NIPT

Lifelabs phone call

Very sorry if this breaks sub rules, panicing a bit and don't know who to ask.

Got the nipt test done on the 24th. Got a phone call from lifelabs today but I missed it by 3 minutes, they left a non descript message and said to call their genetics center. I tried calling back but they work on eastern time so were already closed. I'm going to call back first thing in the morning but can't think about anything else.

Is it most likely they just need a redraw? Would they call me right away like this if it was bad news? Our doctor is on vacation until the 2nd, could it be because they couldn't get a hold of him? Any advice would be appreciated.

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u/crustychad — 2 days ago
▲ 1 r/NIPT

Baby has a NT measurement of 4.4 - anxious-need advice

i had my nt scan at 12 weeks. Everything was looking good, healthy heartbeat, we were so happy and excited until the ultrasound tech told us she was going to get the dr on the phone to explain things further. She explained that my baby had a 4.4 NT measurement and could have a 1 in 5 chance of having issues. I was so overwhelmed and confused since everything looked good and the tech said “looking good”. my body was so overwhelmed I got very hot And got sick as they were going over the options. I got the blood work currently waiting the results. my OB basically told me with my number something is definitely wrong so again I started to freak out. again no results back yet. she was going based on my NT measurement. I'm meeting with the MFM today. hoping to get more anwsers. idk if anyone can share some light or give some hope. the fact my dr basically asked if I wanted to terminate and say something will be wrong scares me.

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u/Acrobatic_Bear_9176 — 3 days ago
▲ 2 r/NIPT+1 crossposts

NIPT Natera time line

The lab got my sample on 4.23.26, still no results back, anyone else on this timeline get their results yet?

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u/MambaBearOf4 — 2 days ago
▲ 15 r/NIPT

High-Risk Trisomy 18 NIPT → Normal Baby - My Story

Hi everyone 🤍 I’ve been waiting to write this until I had final answers, because posts like this were what got me through some of the hardest months of my life.

If you’re here because you just got a high-risk NIPT — I see you. I was you.

I’m 37 and my NIPT came back as High risk for Trisomy 18

No prior concerns. No warning. Just that result. I just wanted to know the gender! With my first daughter, I never did the NIPT(I was younger and it wasn’t suggested since I wasn’t advanced maternal age). My OB called and pretty much said these tests are 99% accurate unfortunately. Gave us no hope.

It completely unraveled me.

I immediately went into research mode, but what I didn’t fully grasp at first (and what matters so much): • NIPT is a screening test, not diagnostic • It analyzes placental DNA, not directly fetal DNA • False positives can occur, most commonly due to confined placental mosaicism

Some things to note. My PPV was 52% after talking with genetics counselor about a week after getting the NIPT result. I held onto that 48% so much. My fetal faction was 3.5% but I was also on lovenox since I was 5 weeks pregnant (I have a blood clotting disorder). It was also noted later that I had a marginal cord insertion which can play into NIPT results based on my research.

She told us about confined placental mosaicism so we knew we didn’t want to do the CVS and decided to wait until I could do the amnio.

However, I struggled with the idea of doing the amnio as I was still nervous of miscarriage. I figured shoot, if we were the one in whatever thousands who had a high risk for T18 - with my odds on anything anymore - an amnio would cause a miscarriage! That was my thought at the time because I truly didn’t believe that we would be lucky in any way anymore - that was how low I was feeling.

Also, if we did do an amnio and it showed true T18 - I wouldn’t have terminated either - so we wanted to hold onto baby girl however long the Lord wanted me to carry her.

We chose not to pursue amniocentesis and instead followed closely with Maternal Fetal Medicine and over the course of my pregnancy - each ultrasound was with MFM. Those doctors were amazing and I started to have more hope with each normal ultrasound.

My scans were normal. Starting with NT scan.

•	NT scan → normal
•	Early anatomy at 16 weeks → normal
•	20-week anatomy → normal
•	Fetal echocardiogram (doctor suggested this for peace of mind even more so) → normal
•	Serial growth scans → appropriate growth (approx. 30–70th percentile) 

I also was having consistent, strong fetal movement - I think I even felt it earlier than my first since I had a posterior placenta.

Something that triggered my anxiety:

Late in pregnancy, head circumference percentiles trended lower. I would spiral and I put every report into chat GPT to get feedback on what we saw. Which in hindsight - I should have just trusted the docs when they didn’t have concerns but my anxiety was still spiraling a lot.

But clinically:

•	Ratios (HC/AC) remained normal
•	No structural abnormalities were ever identified
•	No soft markers for T18
•	MFM specialists were not concerned

The Psychological Reality

Even with normal imaging, I could not fully let go of: • “What if it’s mosaic trisomy 18?” • “What if ultrasounds are missing something?” • “What if we find out at birth?”

This is something I want to say clearly because I still struggled so so much with to this - Normal scans do not always calm anxiety after a high-risk NIPT

Your brain holds onto the initial threat. I felt like I was holding my breath every day and waiting for shoe to drop.

We were then scheduled for a repeat c section at 38 weeks 6 days. We decided we would do cord blood testing at birth.

Well, our little one decided to make an early entrance and my water broke at 38 weeks, 4 days.

On the way to hospital I was eager to meet her but also nervous as heck and worried that we would see some abnormalities at birth - that was still my fear.

We even met with NICU team before as they asked about what type of care we would like should she have Trisomy 18. It was hard to get it out and say out loud because we had faith it would all be ok - but we told them we would want palliative care and spend as much time with her as possible and have her be comfortable - but not in pain - we still held onto the good scans and had faith that she would be healthy.

My faith was tested during this whole period and I will say I did get closer to God during this time. I know that might not be the case for most people but I did rely heavily on my faith.

Delivery & Her Assessment

•	Apgars: 8 / 9 / 9
•	Normal tone, cry, and transition
•	Feeding, voiding, stooling appropriately
•	No dysmorphic features
•	Normal pediatric exam

The Pediatrician’s exact words:

“If I didn’t know about the NIPT, I would never suspect Trisomy 18.”

She was here and she looked and was acting normal!

Postnatal Genetic Testing (Definitive)

Given the NIPT, we pursued full diagnostic testing for her cord blood testing

Karyotype (Chromosome Analysis) • Result: 46,XX (NORMAL) • No trisomy 18 • No structural chromosomal abnormalities

Cytogenomic SNP Microarray • Result: NORMAL • No copy number variants (CNVs) • No clinically significant deletions or duplications • No regions of concern

These two tests together: • Evaluate both whole chromosomes and submicroscopic changes • Effectively rule out clinically meaningful trisomy 18, including mosaicism at relevant levels

Final Outcome

About 2 weeks after her birth, we got microarray back and we have a healthy baby girl with completely normal genetic testing.

This was a false positive NIPT for Trisomy 18

For anyone in this situation: • A high-risk NIPT for T18 is not a diagnosis

•	Confined placental mosaicism is a well-documented cause of false positives - we didn’t get my placenta tested but I do wonder if it was CPM. we will never know I guess 

I lived for months thinking:

“I will not be able to breathe until I have final proof.”

And even after birth, I needed the genetic reports to fully release the fear.

If that’s you: You’re not irrational You’re not overreacting You’re a parent trying to protect your child

There is an end to this process.

And sometimes — even after a devastating screening result — the ending is a healthy baby!

If you’re in the middle of this, I’m holding space for you 🩷 You are not alone.

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u/Nice-Bee-1463 — 4 days ago
▲ 2 r/NIPT

Need advice—high risk for trisomy 21, possible vanished twin

I’m 32, 12w5d pregnant, and received my NIPT results that came back as high risk for trisomy 21. I took drew blood for it at 10 weeks. I did the Unity test and it shows as 9 out of 10 as the risk. They don’t have a specific PPV listed and I’m pretty sure they give 9/10 for everyone. My fetal fraction was 9.5%. I also might have had a vanished twin (more on that later).

I’ve done what I think is all the research that I could possibly do and I keep getting completely contradicting information. I see the NIPT calculators that are specific for trisomy 21 and I get a PPV that’s at about 68%-84% depending on the calculator used, but I know that’s based on 16 week gestation.

And then some parts of the internet and research based articles state that there’s always a very very small percentage that NIPT for trisomy 21 is a false positive. Like less than 1%. I wish there was some kind of solid stat on how many women do further testing and establish it was a false positive.

I guess statistics aside, the only helpful information will be a solid yes or no from either CVS or amnio. My issue is that i MIGHT HAVE had a vanished twin. My doctor “wasn’t sure” if the empty sac was from a vanished twin or subchorionic hematoma. I never ended up bleeding at all though. No fetal pole was ever seen and it was spotted on a 7.5 week ultrasound. I also don’t really trust my doctor and will be changing providers asap.

So my questions are:

do I get a CVS so i don’t wait to be 17 weeks pregnant after amnio and go through a tough, surgical second trimester abortion?

Or is it worth it to do the amnio to rule out mosaicism or something related to this possible vanished twin issue?

If I see markers on the ultrasound I do should I just do the CVS and move forward based on those results?

Thank you!

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u/manelledridi — 3 days ago
▲ 2 r/NIPT

NIPT trisomy 18

I’m 12 weeks pregnant and just got the results back a few days ago. I’m trying really really hard to stay as positive as I can because my doctor put it this way to me “you’re not going to get to the end of this and think ‘I wish I had been less hopeful’” and that really stuck with me. So, I’m 26, husband is 25. We were flagged for a positive trisomy 18 result with a fetal fraction of 15% and a PPV of 13.7. I’ve been researching like crazy for the last 48 hours and the way this was put to me was that our result is a lower risk and because of my age it’s extremely rare. This is our first pregnancy and we did confirm gender and it’s a boy(!). I’m posting because I tried to find results similar to mine but struggled and just wanted to reach out to the community and see if anybody had similar results and maybe what your outcome was. I am prepared for the worst but hoping for the best. Maybe I am in denial a little bit because I love this baby so much already, but I do understand what this could all mean.

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u/Jaded_Tax_1996 — 3 days ago
▲ 4 r/NIPT

Edwards syndrome result

Had my NIPT result back today and it was positive for Edwards syndrome. My partner and I are absolutely heartbroken. We are 26, it took us 16 months to conceive and this was our first pregnancy. It feels like we may never be parents with the luck we are having. Devastated 💔

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u/evieloux — 4 days ago
▲ 1 r/NIPT

Low PAPP-A elevated B-HCG

Hi everyone!

I did my 13 week genetic testing, it came out 1:1368 towards Trisomy 21. The rest of the genetic disorders came back 1:20000

My b-hcg is 2,08. My PAPP-A is 0,53. NT is 1,70

Technically it is negative but my doctor wants me to do the NIPT test.

My ultrasound showed no soft markers-

Her nasal bone is present, nuchal translucency all fine.

All of this has freaked me out. (I need to stay off of the internet 🙈)

Has anyone got scores like this and everything worked out?

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u/Powerful-Lemon-1677 — 2 days ago