Trisomy Puns

Hi all,

My wife and I just learned from my wife's OB/GYN yesterday that there is a 95% chance that our 15 week old baby girl has Down Syndrome. We talked about it and feel pretty similar - not deeply, deeply torn up and shaken, strangely, but definitely there has been some crying, a lot of anxiety about future medical costs and so forth.

I barely slept last night worrying. I've been crying every once in a while yesterday and today, but seems to be getting better. My wife cries occasionally when we bring it up.

We are both Catholic and do not believe in aborting our baby, so will keep her. We still have the official major tests (forgot name, one of them amniosthesis or something??) to go, so it's not 100% confirmed. However, I am mentally prepared that our sweet baby will have it.

I guess I wanted to get your take on what we should do, and how you felt when you learned about your own baby with DS. Are you okay? How is your life? Are we doomed to a life of heavy pain and suffering? Is our sweet baby doomed? I can't believe it fully, but there is a very heavy weight on us. I have a good job - money is not too tight, but how are your medical expenses?

Do you have any tips about what to expect and really, how to prepare emotionally, mentally, and financially for a baby with Down Syndrome???? I really appreciate any input at all. Thank you.

I got two positive nipt for trisomy 21 at weeks 10 and 13. One was Panorama and the other one Qnatal. The ultrasound at 12 weeks didn't show any abnormalities and the NT was 2.4. I did the CVS at 13 weeks and I got the FISH results today. The genetic counselor said 100% of the cells tested positive for down syndrome but I needed to wait for the microarray results even though she said almost 100% it will be positive too. The waiting is killing me and I don't know if I should do amniocentesis too to confirm these results or not wait to the microarray results and set up the termination. This is my first pregnancy and I'm 39, will be 40 in 3 months. I'm currently 15 weeks. Has anyone had a similar situation?

Just received the call from the midwife that we are high risk for trisomy 18 Feeling devastated. This is our first pregnancy. Both my husband and I are under 30 so we weren’t expecting any abnormalities from the NIPT.

We have a amniocentesis scheduled for early February but i feel like I’ve accepted this pregnancy will end with heartbreak.

My NIPT test at 11-week pregnancy picked up a 31% chance of trisomy-13 right before thanksgiving. We had to wait five painful weeks to have the amniocentesis test done at week 16. I had my amnio scheduled right after Christmas. Right before the amnio, our doctor did some measurements on the ultrasound. With Trisomy 13 one of the common findings is less growth, and smaller size babies, it usually does not match the gestational age. All our baby's measurements were on point, bladder, kidneys, brain, stomach, size of the femur... We thought I was 16 weeks and 2 days, the measurements showed 16 weeks and 4 days, so for a few minutes my husband and I both thought that NIPT was definitely false positive. I asked the doctor to look for the nasal bone, even though it might be a little early to look for all those details and we had our anatomy scan scheduled at week 20 to check everything. She focused on the nasal area and two little pits were detected, the doctor suspected bilateral cleft lip and it was that moment that I felt crushed. One of the common characteristics of babies with Trisomy 13 are cleft lip and palate. After the talk about the bilateral cleft lip, I was not mentally present in the room anymore, she performed a quick and 100% painless amnio and we left. I am very grateful that the doctor detected the bilateral cleft lip, because if not, I would have been sitting at home extremely hopeful for the amnio fish to report a healthy baby right before new year. Unfortunately, we have decided to terminate the pregnancy. It was mentally a painful pregnancy, gush of bleeding at week 9 and after that 6 weeks of spotting and bleeding on and off with sub-chorionic hemorrhage and after all of that the NIPT results and the amnio Fish confirmation for Trisomy 13….. BUT I am very optimistic that some day soon I will share a happy pregnancy and a happy baby story with you all. And for those of you who are going through similar situations, I hope your story has a happy ending, and if not, hang in there, in the midst of turbulence, we hang on to hope.❤️

Hi all. Long time lurcher on Reddit, first time poster (literally had to google how to post on Reddit). I so wish this wasn’t the reason I was posting for the first time but I am sooo happy to have found this little piece of the internet.

We are expecting our second (12 w 5 days today) and received word yesterday our NIPS came back high risk for trisomy 21 (ClariTest from Genpath). I literally have no other information, we only had a dating ultrasound at 8 weeks and everywhere is closed for the holidays so I can’t even get scheduled with MFM/genetics yet. I just feel so drift right now and have so many questions (many which were answered already by this amazing subreddit). So I guess now I’m just really looking for solidarity and support for individuals that are going through a similar hard time, especially during the holidays. And if it was a fast process for you? Like were you able to get in quick for your genetics counseling? Obviously, we are pretty devastated right now so any advice would be so welcomed. Thanks in advance.

Edit to add I will be 34 at delivery.

Hi everyone, I recently lost my first ever baby through TFMR (D&C) due to high risk trisomy 18. It was probably the worst week of my life and am trying to stay hopeful. The genetic counsellor and doctors all told me it was sporadic and just pure bad luck that it happened, but I can’t help but feel broken and anxious about the future. I am desperately wanting to fall pregnant again though and will TTC as soon as possible.

I just wanted to please hear some positive stories after their experiences with T18, and gone on to have healthy babies afterwards, how long you took before TTC again and how soon you fell pregnant ❤️ thank you

The story of Lailah so far... What a roller-coaster this has been, I found out I was pregnant the same day I found out my 3 youngest kids had covid, so that was a bit scary, had to isolate for 3 weeks, so not able to really see a doctor or anything like that. When I had my 12 week scan + serum screening the results came back at 1:120 for trisomy 21 and referred to a genetic counsellor for further testing, due to covid + christmas it took 3 weeks for a genetic counsellor to even triage my case, she sent me off for NIPT at 16 +2. I was confident that everything would come back normal, but on NYE I got the dreaded phone call, 98% chance of down syndrome. The earliest could get in for amnio was last Tuesday. I held on to that 2% chance of a false positive with everything I had, the amount of reading and research I did over those 5 days was insane, I didn't sleep, I cried a lot, and begged the universe for a healthy baby. The doctor that performed the amnio did a very in depth ultrasound first, searching for any indication of a problem but couldn't find anything, but also said that 50% of T21 babies appear normal on ultrasound. I have an anterior placenta, so she had to go right through it do do the amnio, not gonna lie, it hurt, but only for a minute. The next day my genetic counsellor called, I was dreading the call and cried as soon as I answered the phone, but she had some unexpected news, the FISH results for my amnio showed no chromosomal abnormality, my baby girl looks perfect, but as nothing is 100% I still had to wait for the full analysis. Just this morning my genetic counsellor called with the results from the G-banding karyotyping, baby girl looks perfect! No sign of chromosomal abnormality. So although it is rare, especially for a 40 year old woman like me, hold on to that hope that someone's got to be that 2% false positive. It could be you

We had a successful IVF transfer and just recently went for a 12w ultrasound. We had PGT-A testing performed before the transfer and no abnormalities were found. Our lab results after the 12w have been returned with high risk (1:16) for Down syndrome.

We now understand PGT is not a guarantee as it only samples a small number of cells. Based on other reading it sounds like the doctors will recommend NIPT next and we’ll speak with them tomorrow.

Here were the results from the blood test:

Age: 12w3d Marker Measurement MoM PAPP-A 676.3 ng/mL 0.80 hCG 261239 IU/L 3.16 NT 2.30 mm 1.45

The hCG being obviously higher than the others. I don’t fully understand the risk calculation so I’m not sure if one of the markers would skew it towards a higher risk even if the others were normal?

I am very thankful for this group as I scrambled to find information after I received a high risk for Trisomy 21 right before Christmas.

This news was absolutely devastating for my husband and I. I took my NIPT test at a little over 12 weeks and it came back with a fetal fraction of 3.9, all low risk except Trisomy 21.

I was able to get into a genetic counselor the next day which I’m very thankful for because my OB basically said here’s the results, someone will contact you and hung up on me. The genetic counselor gave me a 14-91% chance of having a positive T21. What a wide range! We decided to move forward with an amnio and did three tests that could help us determine if our baby was at risk.

My doctor was amazing and the amnio was a breeze. I barely felt anything during and after. I actually thought getting my blood drawn hurt more.

All three results came back NORMAL! His ultrasounds have looked great. The added stress has been horrible for my husband and I as well as our families who provided their support during this time.

Things I’d like to add: natera was a nightmare to work with. If I have future children, I would not use Natera! I do have a higher BMI, which I think I’ve read multiple times throughout this group can cause false positives with natera specifically.

I don’t usually share on social media, but I think it’s important to share my story and hopefully provide some hope and a light for those who are going through the same thing as those previous posts before me did for me. You all got this momma’s and papas ❤️

Doctor called and said they received my NIPT results. She said low risk for all but they did not get a result for the sex chromosomes. They are referring to a genetic counselor for further testing.

She said possible that FF was low in the sample for sca but not the other trisomies. Is that possible?

Has anyone experienced this? Does this mean there is an increased risk of a sex chromosome aneuploidy? I don’t know how I should be feeling right now.

Previous posts here.

Our healthy baby boy was born via elective c-section on 12/2. We were released from the care of the MFM at 30 weeks after continuous monitoring showed no signs of placental issue stemming from possible CPM.

The procedure was smooth and nothing abnormal was noted about the placenta at delivery. I forgot to ask to have it tested so I guess we’ll never have a definitive answer.

The original MFM asked for a follow-up blood draw to run a second full karotype on the baby for “academic purposes”, but they were unable to find a vein at his 2-wk checkup. We may pursue it at 2 months, but the geneticist indicated that the results wouldn’t change from the amnio and that the MFM only wanted to pursue further testing for their own edification. The geneticist also floated the idea that the initial NIPT results could have possibly been due to a maternal genetic abnormality, but my mom had a full amnio with me in the 90s so if I’m a mutant it’s something super mild.

The only thing “wrong” with the baby is a slight fusion of the skin on his second and third toes on each foot. The ped has indicated that it’s a very common birth defect and that it appears to only be cosmetic. I may get it corrected when he’s a little older just so he doesn’t have to deal with bullying/potential insecurity.

Thanks all! I hope this journey has been helpful to anyone who finds themselves in the position I was over the summer. I hope not to see y’all for baby number two in a couple years.

Hi all. My Natera (Panorama) results should be in next week, and I'm meeting with a genetic counselor on Wednesday, but in the meantime my NT/1st trimester scan results came back and i'm feeling impatient (and panicked) so figure I'd post here to see if anyone can help.

My first trimester screen came back with an increased risk of Down Syndrome. I am older (40), and according to my copy of the test results, my risk went from 1/80 pre-test to 1/18 post-test. So, that's alarming (to put it mildly).

The page for the test manufacturer (https://www.ntd-eurofins.com/healthcare-providers/screening-options-overview/prenatal-screening/first-trimester-screen-fs/) talks about detection rates and false positives for Down Syndrome. According to their page, their "false positive" rate on this test for Down's is 5%. On my copy of the results, there's no mention of a result being positive or negative - only the probabilities, and whether they are considered high or low risk.

I'm struggling to figure out what my actual risk is here. Is it 1/18 - 5.5% - of the baby having down's and 17/18 - 94.4% - of the baby not having down's? Or does a risk jumping from 1/80 to 1/18 count as a "positive test", and then I'm dealing with only a 5% chance of a false positive/ the baby not having down's?

Thanks for any help anyone can give me.

Just curious if anyone knows, I haven't had much luck researching myself.

Edit: I forgot to add I am asking about complete trisomy not partial

I received results from my panorama NIPT through Natera last Wednesday high risk for Trisomy 21. I am 34 years old and this is my 4th pregnancy, i have three other children. I went and had an NT scan this morning that was negative for any markers NT measurement was 1.7 and I am 13 weeks. I am scheduled for an amnio on Jan 12th and should have initial fish results by Jan 14th. Am I wrong to have a sense of hope that this is a false positive given the fact that the NT scan looked great. Just trying to wait the two weeks is excruciating.

Hello looking for hope. I tested positive for trisomy 21 on Natera NIPT testing. Ultrasound showed healthy baby with normal Michael translucency and nasal bone. Did CVS and awaiting results. Anyone else have this experience? Dr said I have a 20% chance of false positive:/

Update 12/27: I had my amniocentesis this morning and for anyone curious, it was one of the hardest things I’ve had to do… idk if I’m just being dramatic because my anxiety was literally strangling me but it was extremely hard to go through. It didn’t really hurt but it was EXTREMELY uncomfortable… my uterus kept contracting making it hard for them to get any fluid and in the end the doctor still ended up picking up some of my placenta on accident because my daughter kept moving close to the needle…(they did take a blood sample from me to decipher my DNA from hers)…… On the ultra sound the doctor said her limbs and brain looked good , how ever she has a two vessel umbilical cord which basically means she has one vein & one artery when she’s supposed to have 2 veins and one Artery… the doctor said it’s usually related to Trisomy 13 or a heart defect but it’s too early to tell. If you believe in prayers , please pray for my family. We could really use it.🙏🏼

Hi guys… 12/8 (13+2 weeks)i had a diagnostic scan to check for NT levels behind my daughters neck… the results came back at 4mm. This news absolutely devastated me because i went in there with 100% expectations that nothing was going to be wrong as my first pregnancy with my son went completely smoothly. The Doctor at the time had told me that elevated NT levels meant my baby had a 20% chance for either a heart condition that would most likely need surgery right out of the womb , or a chromosomal problem like Down’s syndrome. She explained that i could take a blood test and if it came back positive then those chances would rise to 99%…

I got the absolutely gut wrenching call in the middle of a work day about a week later saying my NIPT came back positive for traces of Trisomy 13. I left work early that day and have not been back since..

On 12/20 i had an appointment with my genetics counselor and she explained that based off of my age (27) , my PPV would have been 7%, how ever, since my ultrasound showed elevated NT levels she said it was enough for her to say it’s definitive..

I made an appointment to have an amniocentesis done on the 27th because i want to know for sure what my baby girl has… here in Hawaii it doesn’t seem like we have the option to do a detailed ultrasound , so it would be a typical one the day of the amniocentesis & my genetics counselor said she may still be too young for us to be able to see if there are physical deformities already. I’ll be 16 weeks at the time of the

A couple weeks ago we received low fetal fraction results from Natera. Wife was only 13 weeks at time so doctor recommended CVS. Both results came back positive for Trisomy 13. We are currently waiting on amnio to be 100%. We are not holding on to hope at this point. I did want to thank this sub for all the support and information provided I received way more knowledge here than any other resource that we had.

2 soft markers for trisomy 21

I had my anatomy scan yesterday and it came back with two soft markers for Trisomy 21. Pyelectasis and an echoghenic intrachardiac focus. We were not offered any early testing so I don’t have anything to go off of and I’m kind of panicking. The notes said that generally if there is only one soft marker it’s usually fine but since there are two that increases the risk. Has anyone else experienced this?

About a month ago I posted on one of the pregnancy subreddits explaining my NIPT results and asking if anyone had ever had a Trisomy 16 pregnancy. I never got a response from anyone saying they had, but I was kindly directed to this sub. The results completely blindsided me, and there's not a lot of information out there about T16 pregnancy other than miscarriage rates. So I thought I'd make a post here in case any other poor woman got the same result and had to do the same desperate googling that I've done in the past month so she wouldn't come up completely empty handed.

Fetal fraction on the Matern 21+ test was 5%. I still have no idea what that means, but y'all probably do.

I had my amnio this past Wednesday when I was 16 weeks along. All of my ultrasounds look normal. The baby is very active, seems to be developing well, and the umbilical cord has three blood vessels which is a good sign. I'm waiting on a callback from the specialist I was referred to, as the hospital is about an hour and a half away and that drive is just brutal at 5am. I'll update once that comes in, again just in case someone else ever needs to see it.

This is my fourth child. I took the NIPT because the doctors recommended it since I'm 33. I was sold on it when they told me I'd know the gender early. Selfish reason, but I have three sons (aged 12-6) and I've always wanted a daughter. Knowing early just meant I knew whether or not I needed to start buying new baby clothes. My mother has 18 grandchildren, all of them are boys, so she wanted to know early too.

The results came back. It screened positive for T16 and she's a girl. We've decided to name her Estel. It means "hope" in Tolkien's Elvish. (For super Tolkien nerds, its what Aragorn was called as a child) it seems like a fitting name.

I wish I'd never taken this test. I can't be happy that I've gotten something I always wanted. I can't bring myself to buy maternity clothes despite none of my old clothes fitting right. I refuse to buy anything baby related when normally I'd be shopping for a nursery by now, and I'm sticking to this regardless of the amnio results. I don't think I'll be ok with getting even the basics until a doctor puts my daughter in my arms and clears me to leave the hospital. I quit my job because either I'm going to have to terminate the pregnancy and really won't be on the right headspace to keep teaching or it automatically becomes a high risk pregnancy because of contained placental mosaicism (

Background: I’m 36F, my partner is 35M. This is our second pregnancy, both planned. My first was completely normal and uneventful. I’m obese, which may have skewed results? I’ll be 37 at the EDD.

12 weeks + 0 days Submitted blood work for the Natera NIPT. During this visit, they have trouble finding the fetal heart rate and I undergo a quick ultrasound. Baby is measuring on track. Tech doesn’t note any obvious abnormalities, but I don't thinks she was looking for them either.

14 weeks + 0 days Finally received a phone call from my OB with the Natera results after a long holiday delay. I don’t have the actual report despite a million attempts to register the kit on the Natera website, but I’m told my individual post test risk ratio is now 15/100 for Trisomy 18. No idea about FF or any other metrics. It’s a boy. The online calculators I found in this forum suggest the real risk is 50-50.

14 weeks + 1 day The next day, I have an ultrasound with a MFM. Due to a couple factors (c-section scarring, anterior placenta, my weight, etc.) the tech has trouble getting clear images of the fetus. The MFM says the scan is “less than ideal” in terms of image quality but doesn’t see any structural abnormalities. I have not seen the full report yet or heard from my regular OB but during the scan she specifically notes that the brain, spine, face, abdominal cavity and limbs look good. I’m measuring two days ahead. The MFM says it is a tentative false positive. However I know they did not get imaging of the cord, and I’m uncertain of hands and feet

Edit: I received the ultrasound report via the portal. It states, "Impression: Limited anatomic survey due to gestational age. Face, nose/lip, spine, lateral ventricles/thalamus/choroid, anterior abdominal wall, lower extremities appear normal. Heart, kidneys, posterior fossa remain suboptimal. No obvious abnormalities identified. Normal fluid."

TBD 16 weeks + 1 day I am scheduled for a 16 week ultrasound and an amniocentesis with the high risk OB.

I know there are lots of cases where an anatomy scan with no abnormalities is followed by a positive amnio, so I’m obviously not celebrating yet, especially with a poor quality scan… but holy hell, I feel so relieved and emotionally drained. Just incredibly wrung out and empty.

I have read the sticky posts and statistics that a clear ultrasound means you have a 95% chance of a false positive, but I don’t know if that exactly applies to us yet. We have a clea

New to Reddit, and glad to have found a space for those walking through similar circumstances. It’s hard to be worried and especially to do it alone.

15+5 today, and this past week received news that we are high risk (1/17) for T13 and T18. I haven’t seen the testing results myself, as my doctor is being a bit slow to release those to m. We live in a small town with limited healthcare options, so will need to wait on a referral and then travel for any kind of sufficiently detailed ultrasound.

Any suggestions on how to handle the waiting greatly appreciated.

I'm 12 w 4 d pregnant and just found out from my local nipt test that they found trisomy 20. Now I'm waiting for my amniotic testing that will be done in January. Just wanted to hare is someone has been in the same situation and what my odds are for a healthy baby. The waiting is killing me and there is so little information aut there. Unfortunately my genetic counselor didn't want to say much either before the test come back.

I think I just need somewhere to let it out for a minute, you know? Has anyone been through this and have some positivity to share? We know the chances are still really small that our baby actually has trisomy 18, but it sure came as a shock to get that phone call from the doctor, as I’m not really in the age range to be considered high risk. I just got the follow up bloodwork done today so hopefully should get a result in about 7 business days. I’m sure it’s going to be okay, but tell me it’s going to be okay 🙏🏼

Hi lovely people,

I just received the news that my NT scan & blood draw came back with a high-risk for Trisomy 13 (1:16 chance) and moderately high for Trisomy 18.

The Dr has recommended to do an amnio as a next step rather than do a NIPT and wait for those results, which would likely also say I would need an amnio (based on the levels of my results).

I have an appointment with a specialist tomorrow to chat through the risks & meaning of everything, and I do want to definitively know. However I am also nervous about the potential risk of miscarriage from an amnio.

I've seen some women posting here that they have had one done and I would love to hear others' experiences - if there were any side effects/pain/regrets or if it was all well and good. TIA xx

Last night we received a call from my doctor saying my blood work came back with an increased risk (1:130) for Trisomy 21. This was a shock, as she’d sent a message earlier in the week saying the ultrasound looked fine (NT of 2.5mm, visible nasal bone) and I’m only 30 years old. Apparently all of my levels were mildly off. I’m not that familiar with what they should be, but they were:

Free B - hCG: 1.39 MoM PPAP - A: 0.36 MoM PIGF: 0.74 MoM MS-AFP: 0.6 MoM

Logically, I know 1 in 130 is less than 1% chance, but it’s been so hard not to worry or to think of anything else.

I had my NIPT Panorama this morning - things moved rather quickly. It’s all been a bit of a blur.

Just looking to share my experience so far, and see if anyone has advice. (I posted this in r/BabyBumps earlier today, and they suggested here as well.)

I posted here about two weeks ago explaining my NIPT results of a female fetus with Trisomy 16 indicated. I'm updating again for the reason that I never found a ton of information about T16, and don't want someone else to find nothing but academic papers when they start googling like I did.

I got a call from the genetic counselor at my MFM specialist this past week. She scared the crap out of me at first by asking me to sit down, and I had been mentally preparing for the worst. She told me that they didn't see any indicators for T16 in the amniotic fluid. They're counting it as a false positive. She said that we could do a test to confirm contained placental mosaicism, but they don't think it's necessary. They just want to do frequent ultrasounds and monitoring to risks associated with CPM.

I cannot explain how relieved I am, but I'm fairly certain that those of you who've had false positives already know.

I'm so frustrated with these tests though. My regular obstetrician didn't even know what T16 was. She literally googled it on my phone and clicked a pubmed article to try and explain it to me on the office visit when she first gave me my NIPT results. How on earth are they able to suggest these tests when they don't have the ability to explain the results to patients? It just doesn't make sense.

With the new “heartbeat” law, I am not sure how it works. Maybe only if woman’s life is at risk, she can legally terminate? or if baby has severe genetic defect?

I had my blood drawn 2 weeks ago while I was 16 weeks and 5 days pregnant. Up until this point, there have been no red flags in my pregnancy and I’ve had several ultrasounds. My NT scan came back at 2mm at 11 weeks.

I took the myriad test, and from what I’ve read, that seems to be the most accurate test on the market. My fetal fraction was 13.3% and my results came back with a 51% chance of trisomy 13. Everything else was low risk.

Any chance this could be a false positive? I’ve been so anxious since getting the results. I wish the MFM office would escalate this, since at this point I’m almost 19 weeks. They’re making me meet with a genetic counselor first. From there, they said they would schedule an amnio. I’m just scared that if it is a true positive, I’ll be at least 23 weeks around the time I TFMR, between getting scheduled and waiting for amnio results.

I also have high BMI and am on blood thinners. Could this effect results?

Also, I’m 35 and this is an IVF pregnancy that I did not do pgs testing on.

I just got the call from my Genetic Counselor and my FISH results are normal!!! I feel like I can finally breathe, and I am so so relieved. Given my normal ultrasound, and the FISH results she is confident that this was a false positive. She said that the chances of anything abnormal coming back from the microarray is slim. I should have the microarray back next week.

Please keep praying for me that these come back normal too, this has been so hard!

Hello everyone,

I am deep in google trying to find information on this because I am facing a very difficult decision. Not much is out there and also I probably don't have the technicality to comprehend now.

I have done blood testing and CVS and have the trisomy 18 screening. All my cells from the placenta were developed and all came back with trisomy 18 too. Yesterday I went for a 15-week ultrasound and it all looks normal. 4 heart chambers, no clenched hands. I am leaning towards interrupting because it horrible as it sounds I don't want to risk having a special needs child, or facing the complications later, or finding out in the ultrasound way too late that they are trisomy 18 markers. I also think if something happens to me or my husband I don't want to leave my healthy daughter with that responsibility.

I am 35, I can still get pregnant in the future (hopefully) so I'm wondering 1. Have any of you experienced this? Normal ultrasound but CVS and blood come back with trisomy 18? 2. What would you do? How did you deal with D&E? 3. If fetus is normal, what complications exist from placenta with trisomy?

I think I might make the call today to schedule it. Thanks again for reading this.

Was planning on telling our family the gender at Thanksgiving. Instead, trying to keep it together when we just found out we're high risk for Trisomy 18 and are getting a CVS tomorrow. Fuck. My last 2 holiday seasons have been ruined by MMCs, why would this be any different?

I (30F) had my blood screening at 16 weeks which resulted in the baby being at risk of trisomy 21 at 1:45 chance. Family history of husband and I have absolutely no genetic of health issues. Today I had my amnio at 19 weeks and will have results in 2 days. I have my fingers crossed that this was a false positive and that the amnio will reveal a healthy baby. Anyone else had this low ratio for genetic issues and amnio revealed good news?

UPDATE: just got my amnio results and i’m NEGATIVE for any genetic/chromosomal issues! Such a relief knowing this even though my risk was high.

They squeezed me in today for an NT scan at 13wks3days

MaterniT21 PPV 63% with 3% FF

Baby was wiggling all over the place today but they were able to come up with an NT measurement of 4mm and said above 3mm is abnormal. Moving forward with amnio.

I’m moving more into the acceptance phase that I most likely have a true positive now. The genetic counselor was very kind but she had no positive outcomes to tell me, only that more than likely the results are accurate.

I scheduled and amnio for November 17th at 16wks3days & it seems an eternity away.

Just got my NIPT back and I'm high risk for Trisomy 18, they said 90% likelihood. This was to be my rainbow baby after 2 MMCs. The last 2 years of my life have been so traumatic and I really thought this was going to be it. Have ultrasound and CVS testing on Friday. Don't really have any words to say.

From what I understand, these threw trisomies are the only non-lethal trisomies in utero. But their prevalence rates are so different.

Prevalence rates for Trisomy 21 are around 1/850, whereas Trisomy 13 (1/12,000-20,000) and Trisomy 18 (1/6000-8000) are so much more uncommon. Why is that?

Hi All, I received a positive Trisomy 18 blood test result last week (which seems like a lifetime ago). I got the blood work done at my 10 week visit. I don't go for my nuchal scan until next Tuesday. These have been the longest days of my life. I can't imagine having to wait 3 more weeks for an Amnio to confirm.

I am a T1 diabetic and up until this point have been so focused on maintaining healthy blood sugars to ensure the little one is ok. And then I'm hit with this. I have no clue what the future holds but just wanted to vent I guess. I am single parenting at this point and this is so tough to go through alone. Any words of encouragement are greatly appreciated!

I am currently 16 weeks pregnant and I received my NIPT results around 14 weeks. My OB told me that a majority of these come back as false positives and that my PPV was 7% based off of my age, I am 25. However, we met with the genetic counselor last week and she was not very hopeful. Based off of my Harmony results alone she informed me that there’s actually a 98-99% chance that the baby DOES have Trisomy 13, which has broke our hearts. I am scheduled for an amnio this week and I am terrified of the results. Before this pregnancy, we had two back to back losses and before that we had a our daughter who is almost two, I had a loss before her too. I’ve had karyotyping done on myself and I don’t have any translocations but my husband still needs to get tested. I’ve been mourning the loss of my baby, who is a girl, even though she’s still alive and has a heartbeat. I am praying for a miracle and looking to hear similar experiences. I am really nervous for the amnio and the doctor will be going in through my abdomen, how painful will this be?

At our 20 week ultrasound, a potential cyst was noticed on our baby’s brain. My wife went to get blood drawn for a Quad test, and the results returned with an increase risk of Down Syndrome using age and biochemical markers at 1:223. (>= 1:270 is considered adjusted risk). Obviously this news has us a bit worried when we see “increased risk” in the paperwork. My wife has an appointment with a Genetic Consultant tomorrow, and one of the next options is amniocentesis.

Has anyone dealt with a similar situation? Would the NIPT be a better option to give clarity/a more accurate prediction of Trisomy 21? Any words of advice to help calm my wife and I nerves? I realize there is still so many factors to be determined over the coming weeks…but you could imagine how our minds went racing as we read the reports. Thanks in advance for any advice and suggestions.

Hello all. I need help. I don't know what to do. My husband is wanting to terminate the pregnancy. He feels like waiting is delaying grief and healing and will be even more confusing for our young kids. He is worried about me mentally and physically. He is worried about the baby surviving long enough to come home and die. When I first got the NIPT I thought that I would probably terminate as well, but I watched her wiggle around on the last scan and all I could think is that I want to hold her and I want foot prints. I thought about how surprised I was at being pregnant and how much I was excited to have a baby. I am also petrified of continuing my pregnancy. I have had some traumatic medical experiences including two other miscarriages. One was required hospital time and was very shocking and sudden. I was already crying after every doctor visit before this fresh news.

The clock is ticking on terminating. I have to do it before 20 weeks where I am or I have to travel back to my home country and do it alone. All of this will be out of pocket. It actually may be cheaper to go home, but I have other kids to juggle as well. My current location also will not do a labor and delivery type of termination so I will not be allowed to see anything of my baby. It will have to be the D and C. I am actually unsure of what I can and can't do for termination based on gestational age in the US. So... If anyone has insight into that.

If I keep baby and go past 20 weeks I could get money to cremate or bury baby through insurance as long as I didn't do anything to terminate. Termination is not covered in any way except for maybe incest or rape. If I miscarry or carry to term all expenses are paid. I hate that money is a factor in the (curse word)ing equation, but it is. My husband is fine with the expense, but I feel bad about that. It feels so so so bad. I have to pay loads of money to end my pregnancy with a child I deeply wanted because I think that may be the humane option for everyone. Maybe. Or I keep suffering. Keep letting them grow. Keep walking around pregnant. Waiting for impending doom. And it's free. Except for the emotional/physical load. Pregnancy is HARD.

Why are health choices like this?

None of this is fair. This isn't compassionate for any of us. Please share stories and possibilities if you have any insights. I'm sorry if I sound like a horrible person. I haven't slept much and I am in and out of crying. I can't handle anymore Google searches.

Edi

A week ago we got our NIPT results with a positive risk for T13. Baby had a heartbeat at 14 week checkup and measured 15 weeks at the ultrasound.

From the very beginning of this pregnancy I had a vague feeling that something was not right, but I chalked it up to having a toddler this time around and just being extra exhausted.

I’ve been lurking on this sub for the past week and it helped to read everyone’s stories.

I am currently 13 weeks pregnant and this past Friday I received the results of the genetic blood testing they did to screen for chromosomal anomalies. It says that the baby (apparently a girl, my first girl after three sons) has Trisomy 16.

I can't find a whole lot of information on this abnormality. Any searches I do on this explain that it almost always ends in a miscarriage during the first trimester, but I'm already past that and she seems to be growing and moving fine based on all the ultrasounds they've done. The little bit I can find about children that make it to birth is that there's a wide range from minor to quality of life damaging deformities and medical conditions that exist in T16 mosaic children. The ones that survive are almost always born early and it poses greater health risks to the mothers during pregnancy.

I've found a sort of foundation for it, but I'm only seeing something like 30 examples of living children with this issue. Has anyone here dealt with this or had a child that survived t16?

http://mybook.to/OliviaAndBun-Bun

Hi everyone, I recently lost my first ever baby through TFMR (D&C) due to high risk trisomy 18. It was probably the worst week of my life and am trying to stay hopeful. The genetic counsellor and doctors all told me it was sporadic and just pure bad luck that it happened, but I can’t help but feel broken and anxious about the future. I am desperately wanting to fall pregnant again though and will TTC as soon as possible.

I just wanted to please hear some positive stories after their experiences with T18, and gone on to have healthy babies afterwards, how long you took before TTC again and how soon you fell pregnant ❤️ thank you

Original post:

https://www.reddit.com/r/NIPT/comments/qylu1a/positive_t13_niptperfect_ultrasoundsconfused/?utm_source=share&utm_medium=ios_app&utm_name=iossmf

My doctor called to tell me that my NIPT results have come back positive for trisomy 18. Other than an elevated NT measurement, can anyone tell me how soon they were able to see other structural anomalies on ultrasound? Can I reasonably expect to be able to tell this might be a true positive before my amnio scheduled for 16 weeks?