Nipt test after pgs reddit (Not sure if the brand for NIPT but instead of numbers it just reads as positive or negative). And every mosaic embryo transferred so far has resulted in a normal live birth. Update: My 2nd draw produced a result. 1. I was fasting and not eating and drinking the best, lots of caffeine. Also, insurance covered everything and it didn’t make sense not to do the testing. Could somebody explain to me or point me in the… We told our family pretty early; around 7 weeks, and told our closest friends at 10 weeks. We are waiting on our NIPT test results now. It can also be an indication of heart issues which can be checked at the 20-week anatomy scan and with a fetal echocardiogram a few weeks after that. (uhh This is the fault of PGS testing. On May 5, I had an NT scan at 12+2 after a successful transfer of a pgs normal embryo. I had an increased NT (3. 0 MoM HCG levels, and 0. I live in Canada however, if there had been any concern about abortion services and fetal timing I would have got the NIPT as soon as available. The risk of a miscarriage from a cvs or amnio is incredibly low, but i am also the type of person who wants the information. 2% chance something is wrong and in this case 349/350 times Turns out ok as it will with your also. The possibility of having a baby with T21 after a low risk NIPT is <1/10,000. 198 votes, 68 comments. I had 2 weeks of worrying about it even though I knew it was unlikely since I got PGT done. All my PGS embryos came back complex abnormal or complex mosaic, so I stopped testing and just put one in. Bc of my age and my daughter having DS, my dr gave me the NIPT test. After doing IVF with PGT testing to fall pregnant, I really wasn't expecting bad news. We, my husband and I with the support of our GC, decided not to move forward with amnio due to lack of family history of Noonan thus a small risk. It was covered 100% through my insurance (Kaiser) due to my age. My doctor looked at me in surprise and said he has never heard of it. 6 mm nuchal thickness, 5. I had a miscarriage at 9 weeks in late 2018 (trisomy 16), I had a pregnancy TFMR in July of last year due to Turners syndrome diagnosis, and then decided to go through IVF with PGS testing to help increase our chances of a healthy embryo. My anxiety is through the roof waiting for my NIPT testing. We did two different NIPT testing, which came back negative, and all of our ultrasounds looked normal until 30 weeks when there were issues with her kidneys. We now understand PGT is not a guarantee as it only samples a small number of cells. This is now one in less than 10,000 with PGS testing. This is a community for those who have gotten pregnant after a struggle with infertility. So your study population is probably enriched for false positives - making the PPV lower with genome-wide NIPT than PGS. ONLY ABNORMAL RESULTS CAN POST!!!! MUST READ pinned posts prior to posting! This NIPT/NIPS sub is for FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. We have one PGS embryo that I am now 13 weeks pregnant. During the call he mentioned getting NIPT done from my OB/GYN even though I already did PGT-A testing on my embryo that was transferred (conceived through IVF). My blood results are of same value as yours with 1:187 risk ratio of T18 , I am also 31 , my first pregnancy (with PCOS). However today at my regular OB checkup I asked about getting NIPT. Did the NIPT (normal) echocardiogram (normal) early anatomy scans (normal) and amniocentesis (normal). I also have a lot of issues with PGS and it’s positive predictive value of abnormal embryos doesn’t exist- but what we do know is that in “pgs” normal biopsy there ARE normal cells and at worst this I did the NIPT test and genetic carrier screening test. 2, with a PGS tested embryo (o did IVF). It can’t know microdeletion/ duplication or single gene disorders, etc. Had anatomy scan yesterday, and have spent the last less then 24 hours since spiraling, so figured it was worth posting to hear others experiences/get a better sense of actual risk. But the other big difference between the genome-wide NIPT and PGS is that usually NIPT is done after 9 weeks, so for all we know, pregnancies with a true RAT would likely have failed to implant or miscarried by then. I had successful implantation my first transfer, but then it became a blighted ovum. I understand there are slight differences but I was comfortable after nuchal waiting for the 18-20 week scan. Unless you are high risk for a genetic disorder, it makes sense to do a screening test first, assess your risk, and then decide whether you want to proceed with diagnostic testing. How frustrating. I think most people don’t understand how extremely common CPM is because it’s for all chromosomes and only nIPT is bringing this to light since young women are doing this below 35. Basically it never ends lol I wish I had some good advice for you but honestly the best approach is take it day by day. This has been such a disaster journey for me with pregnancy. I think the emotional and financial hardship of failed transfers far outweighs the cost of the testing. 4% and gestation period was 12+2 when I took the test. Our daughter was born last June and passed away one day later due to T13. But, they said the NT was abnormally large and I have about a 20% chance of either a heart defect or genetic issue (those the PGT should have picked up + a range of others too complex for the PGT to pick up). NIPT is not as great at accurately detecting sex chromosome aneuplodies as it is with trisomies. when there are 3 markers you need an amnio with a microarray especially in light of abnormal nIPT. WILD UPDATE: I call the doc this AM because I still didn’t see my results posted. I have meeting with genetic counsellor tomorrow and further testing (Probably NIPT and then further test if required ) This period is full of so much stress and worry . Low risk nipt and i opted for a cvs but only because they scheduled me for the day of my nt scan. Would really love to hear about anyone else who had to make an appointment to get the good news of a negative test. Aug 23, 2018 · I'm 12 weeks pregnant after transfering a single PGS tested 5-day Blastocyst. So, here is some information from your friendly neighborhood genetics professor: I am 9+6 today and having the NIPT test some time this week. At the end of April, my very regular period was a day late so I took a test and got a positive! It was so surreal after 26 months of disappointment. We also know that PGS is faulty in a way that when the biopsy says normal it can be mosaic because 80% of allllll embryos are mosaic. With my son I… There are 2 main sticky posts about what NIPT is, how it works, what it can miss and how false positives happen, sono findings, and your chances of a true positive after NIPT. I have done the NIPT prenatal testing 3 times now (week 11, 12 and 15) and each time it came back with inconclusive results due to low fetal fraction. I just noticed that in the lab slip they had the wrong due date. I tend to already be an over anxious person. Has anyone here done additional prenatal screenings after a PGS tested pregnancy? Please share your experience. Is a full quad screen providing any additional information after an NIPT for the common 4 trisomies? ["For example, for the extremely rare chromosomal condition trisomy-13, or Patau syndrome, the average accuracy of NIPT in a 35-year-old woman is 91%, meaning that the test is fairly successful at picking up a possible problem. Like your provider said, you were given a higher risk ratio for T21 due to your advanced maternal age (which was still less than 1%). This is remember 1/55 which is 2% chance IF you didn’t PGS test. But a calculation based on the pooled results of 37 published studies of NIPT indicate that the average PPV is only 21%. After a post on one of my bumper groups (for IVF) worrying about trisomy at 13 weeks after a good NIPT, I realized that many people don’t actually understand fully why certain tests are done and others are not. Then you can do NIPT as a second non-invasive test for a higher degree of certainty before moving on to e. Has anyone else that did genetic testing on their embryo also go on to the NIPT? There are 2 main sticky posts about what NIPT is, how it works, what it can miss and how false positives happen, sono findings, and your chances of a true positive after NIPT. 15 votes, 22 comments. Skipped nipt, CVS with microarray at 12 weeks (pgs doesn’t test for micro deletions and these can be as severe as trisomies and monosomies), NT scan at 13 weeks ( to exclude basic non genetic issues), cystic fibrosis carrier test at 23weeks (probably redundant but it was covered by my insurance, at least we know I’m not a carrier). My other 2 children were born with no genetic issues. After doing PGT I had planned not to do any genetic testing during pregnancy and declined the NIPT. Essentially this is also the fault of PGS testing when the test result comes back “mosaic”. The genetic testing they did on our embryos did not cover the Cri-du-chat syndrome (5p15. Of course there is the option of relying on the ultrasound finding only, but your specialist is recommending CVS as standard for diagnostics Infertility doesn't go away after the first positive test. I had the NIPT test done at 10 weeks and am waiting on the results. And it can cause unnecessary anxiety. Instead of 8/5 they listed my due date as 6/12. Please read top 2 pinned posts & automod message for information about the screen and your result. My last pregnancy was in 2012 and they didnt have this test or if they did, it wasnt offered to me. 35 is still young and if the baby has been measuring good so far chances something is wrong with nipt are Hello, I’m 38 years old. Also there is a lot of information in the top post about NIPT/CVS/AMNIO as well as fetal development and PGS testing. For those of you who have graduated form your fertility doctor, did you do NIPT testing if you had also done PGS testing and know your embryo was… Coins 0 coins Posted by u/chulzle - 6 votes and 18 comments The NIPT testing and NT testing for the 5th pregnancy (2nd that made it to the NIPT/NT testing stage) came back clear, and resulted in a live birth. Up until the anatomy scan everything was looking great! Euploid embryo with low risk NIPT result and NT measurement of 1. The NIPT is way more accurate - but in delivering hundreds of IVF babies, he’s never seen an abnormal test come back for someone who had normal PGT results. The scan showed an increased nuchal translucency measuring at 5. 6mm. Along this journey with help from this forum and some intense research, I found some factors that could have caused my no result and hopefully this helps someone in the future. Our lab results after the 12w have been returned with high risk (1:16) for Down syndrome. I just saw a new doctor at 10 weeks and he didn’t mention it at all. After insurance my NIPT + carrier screenings would have been $1,450, (Invitae checks your insurance coverage for you!) but I paid self pay for $350 for both blood panels together. I was just transfered to my OB/GYN who recommended I do NT scan. I'm 14+6 with a euploid (chromosomally normal) embryo from IVF so I know that the NIPT really ought to come back negative but the anxiety is creeping in. After a lot of research, I’ve learned that NIPT results can be unpredictable based on: BMI, your physical activity level, what needles the phlebotomist used to draw your blood sample (shouldn’t be butterfly), how quickly the blood comes out, recent infections, what lab processes the test (some labs are more notorious for false positives Edit to add: I also regret that I did NIPT because my first test came back high risk for Trisomy 13, 18 and Triploidy due to low fetal fraction. I don’t know why but I’m having MAJOR anxiety about it this time. I did NIPT at 10 weeks, and everything came back low risk. I went to have my NT scan and do the NIPT today. Fellow Turner’s parent. Since the NT scan I’ve had an amnio with normal fish results (waiting on noonan panel). As a reminder I started r/NIPT for those with abnormal results to learn about what NIPT test is, how to read your true positive predictive value based on your age and what the results may mean. Hi all. I am currently 13w3d pregnant with a PGT-A tested euploid embryo. I found out through genetic carrier testing that I’m a carrier for a extremely rare condition and luckily my husband isn’t a carrier so she won’t be affected but she has a 50/50 chance of also being a Wanted to see if others here had experience or experienced false negative NIPT testing. And I would actually say this is a low risk result. I am in a similar boat but only with a slightly higher BMI then “normal” and had We did the NIPT test for reassurance and then redid the NT measurement at 13 weeks. Best of luck to you There is no predictive value in PGS and embryos are 80% of the time mosaic according to Johns Hopkins single cell sequencing. Hoping everything turns out okay with God’s grace . Low risk. g. PGS testing has been running their scam and making millions of dollars because it’s not too possible to prove them then wrong box jo one transfers “abnormal embryos”. I did everything I could to avoid complications - PGT-A testing, NIPT testing with added 5 microdeletions and NT scan. 1). She says NiPT is only 96% accurate. However, despite that and the fact my insurance would pay for pgs after my loss, I chose not to do PGS for my second retrieval. Fingers crossed for you! It sounds like there are obvious reasons for the low FF and I hope that’s all it is and you get results. The NIPT these days can detect a lot of conditions (at least the ones available commonly in the US). I declined due to cost and got referred to a maternal-fetal medicine department who does their testing through Invitae. NIPT results in a week and amnio at 18 weeks. Since we had done the NIPT and it - plus the PGS - was all normal, we knew right away that it was just a mild kidney defect, which was no big deal at Hey there—yeah, the waiting period is the worst. NIPT and NT may not have been necessary, but with my history of RPL with PGS-normal embryos, I wanted to be as sure as possible. I had a repeat NIPT with a different company, and the results came back no risk. Also, of my three friends who got pregnant via IVF, two did PGS testing. I would counsel you if you reeeeeeallllllllly wanted an amnio sure. With PGS testing and normal NT this is more likely to be a false positive. I also had an NT of 4. Is it too late to get? I already have my nuchal at 12 weeks. NIPT only tests for the 4 most common chromosomes and doesn’t look for anything else. UPDATE! So the preliminary results came back normal which is when I wrote this post. We had a successful IVF transfer and just recently went for a 12w ultrasound. PGS is not perfect and doesn’t ensure a completely healthy baby (or a baby at Posted by u/DidIEver - 7 votes and 29 comments He told me to not do the full Quad screen after all my earlier screens except the AFP portion of the quad test since the screen is notorious for false positives. true. Has anyone done My wife is 12 weeks 5 days and did the government OSCAR test in HK similar to first trimester screening in the US. You an also take an actualy NIPT test not the triple screen. NIPT is gold standard in screening for chromosomal abnormalities, as it is actually testing DNA from the placenta and was created for T21. Moreover, a quad screen is an inappropriate test to follow a NIPT anyways. Posted by u/Ship_of_Rabbits - 5 votes and 2 comments If I had to personally put a number which is a GUESS since there is absolutely no studies on positive nipt and negative PGS out there I would say there is 90-95% I am currently patiently awaiting my NIPT results but was just curious was there anyone that found abnormalities in their NIPT results after… You’re already getting an amnio and though AFP tests for some things amnio doesn’t, like spine bifida, these conditions are detected on ultrasound. Obviously this has sent me down the rabbit hole of anxiety. PLEASE READ THESE LINKS - this will explain everything. One ended up with 5 embryos post testing and got pregnant first transfer. I was not healthy like when I was prepping for IVF. NIPT is by far the superior test If you did PGS, and you have a low risk NIPT, then I would not give this another thought. Thank you for this!!! We are doing NIPT for a preliminary screen, but are absolutely going to do an amnio. Currently 10+1 and getting NIPT at 11+1. PGS is fairly accurate even though it's testing future placenta cells, but it's up to you if you want an amnio after this. My OB suggested doing the Nuchal (free, covered) and then deciding after that if I wanted NIPT. I had my amnio yesterday after an abnormal NIPT result (Monosomy 18) and am awaiting results. Things went well for me. ️ (PGS also can miss microdeletions but nIPT won’t tell you that which is amnio and microarray is the most accurate screen - PGS technology isn’t going to be accurate with microdeletions and there is no PPV for this) like the nIPT PGS normal likely means They are offered if the results of other tests (blood test known as the "double test" in combination with the NT scan in weeks 11-13) come back indicating higher risk of either of the trisomies 13, 18, or 21. My NIPT test was done a month or two ago, and everything came back negative for abnormalities. After 5 weeks, of which 4+ weeks of culturing, we were told that our sample is not good enough to run the Noonan test. I'm a 39 year old, mother to 3 (2 girls, one boy. Dr at the sonographers wasn't too concerned about the NIPT result explained the test is in its data collection phase and if we had done a non expansive test, it would have shown a normal result. Last night the NIPT results came in, but it said no result due to low fetal fraction. The maternal serum screening that you did at your NT scan is much less accurate than the NIPT, your baby is good! my genetic counselor actually just told me that the official California state prenatal screening program is about to stop doing that first trimester test because so many women get false positives and have perfectly fine NIPT results. I also did that my first pregnancy but my doctor then encouraged a nipt test. Most of all I am terrfied of a miscarriage/ something being chromosomaly wrong dince I have DOR and only 1 of my eggs ended up being ok. If I pursue another pregnancy with out remaining PGT-A embryos and it gets to that point, I’ll do NIPT and NT again as well. And fetal mosaicism is exceedingly rare. Here is my question: Has anyone gotten pregnant with a PGS normal tested embryo that later tested positive for an abnormality via NIPT (specifically a Maternit21 or other cell free DNA test)? I did ivf with Pgs testing. I did IVF, PGS, and NIPT were all clear. Also, pretty sure NIPT tests for more than what PGT does but not 100 percent sure on that. I did also get a nuchal test/combined screening done at 12 weeks, which came back low risk. I leaned on the pgs results, 12 week scan looking good so far, and I did the afp (which wasn’t presented as an option). Doctor who did my ultrasound told me since my NIPT was negative, I don’t need to worry about this and need to trust the NIPT result and carry on normally. I also had an AFP blood test that came back very low risk. But basically PGS normal embryo means all cells in placenta are normal or mosaic since it’s just a 5 cell biopsy from 120 cells so it never rules out mosaicism in placenta - sometimes that can be cause it would also not really find a microduplication and I did NIPT, NT, and AFP with a PGS-normal embryo. I know PGT-A testing is not perfect (far from it) but combined with a clear… Posted by u/pandapotato45 - 2 votes and 26 comments But testing is usually possible of products of pregnancy (testing on the fetus after the termination) if you wanted that information. Hello, everyone. No further testing required since it’s even below the 1/250 Cut off. Hello everyone, I thought I would make a post about NIPT tests since it's so common now as well as give people a resource to get information about what NIPT test is, what it tests for and how to determine the possibility of a true positive from a high risk call based on your age which is called the positive predictive value. I am 40y old and currently 25w4d pregnant with my rainbow IVF baby girl. There are 2 main sticky posts about what NIPT is, how it works, what it can miss and how false positives happen, sono findings, and your chances of a true positive after NIPT. A PGS normal embryo would be a low risk population that doesn’t need an nIPT test regardless of age because of previous PGS cell testing. 5 MoM PAPP-A levels, which the hospital let us know we are high risk of 1 in 9 chance for down syndrome and ask us to go back next Monday for follow up. Aug 6, 2020 · Hi everyone, I am currently 13 weeks with my PGS tested baby, and just did NT scan this past Monday, everything looked fine. . We had PGT-A testing performed before the transfer and no abnormalities were found. I came across a NIPT test called Natera Vistara Single Gene. NIPT Results: All low risk (1 in 10,000) for T21/18/13/momosomy X/Triploidy/22q11. Your amnio is diagnostic and more thorough than any other test available to you. This was after transferring a PGS normal embryo and a negative NIPT. Posted by u/pineapple_paint - 9 votes and 9 comments In general 2-4% of all pregnancies have CPM of some sort. During this difficult time you may be looking information about what the NIPT results you received mean. I will tag Based on the meat of your follow up comment and the content of the articles you cited, it seems that your position has been clarified/narrowed from No one should ever do NIPT testing, to NIPT testing for more than the most commonly occurring chromosomal aneuploidies (trisomies 21, 18, etc) is of very limited utility for the general population Hey there - it would be good if you went and read all the atypical finding posts to get an idea of what the next steps are and options. I am now 12 weeks pregnant and our baby passed the NIPT genetic test with flying colors. I opened up the portal and THEY HAD READ ME… 10/01/2022 Update part 2: NT scan showed no signs of deformity, left and right hemisphere of brain functioning correctly, heart beating correctly, all fingers and toes, great spine etc. 3-p15. 2 deletion syndrome PGT Results: We did IVF and our embryo was genetically normal I talked to a geneticist counselor this morning and they believe that the baby could have Noonan Syndrome based on the NT test and the large jugular sacs. However, an amnio is a very safe procedure. We didn’t wait for NIPT results, but we did IVF with PGS, so the NIPT was more of a formality/confirming what we already knew from the PGS we had done on the embryo. There’s different methods for this, but they all have a small but real risk of increasing your miscarriage rate. If they wanted to, they could do AFP only, but ordering a quad is pointless. I was scared of getting a false positive and didn’t do the nipt test. The fetal fraction for the test was 8. I did sonogram at 13 weeks 4 days (EDD), and it came back with increased nuchal translucency of 3. Suggesting CVS (an invasive diagnostic test) before any screening, such as NIPT and/or NT scan, is odd. They use Harmony. We got 3 embryos (more than expected). So sometime between the blood test and the next appointment, we had lost Baby A. About two months ago the NIPT showed that my baby was high risk for Trisomy 21. NIPT is not diagnostic (confirming a DS diagnosis), it identifies babies as high risk You need direct sampling from the womb to confirm the screening test . Neither PGS or nIPT are diagnostic tests and you’d always need an amnio to confirm. amnio. No matter how you got here, we You get some relief after but then there’s the 20 week anatomy scan and even after this im super anxious about birth. That is a micro deletion that just aren’t done that early. I needed a positive story. The next week, at 12+2, I had an appointment with the MFM, and we found out that Baby B was still looking fine, but Baby A no longer had a heartbeat. Quad is the least accurate test, followed by First Trimester Screening. 3) and my MFM strongly recommended the amnio to rule everything out. I know my baby’s sex already so wondering if it’s even necessary. The other chose to PGS test after previous failed transfers. We still have a ways to go but were thrilled that this happened after the odds looking so bad for us. Your nIPT will come back low risk if you had it done. If we hadn’t done NIPT we would have been rushed to do genetic testing under much more intense circumstances - much much later in the pregnancy - and I think it would have added to my IF trauma. Remember 1/350 is still only 0. The results were 1. The day of the test I'd had an NT ultrasound, during which the baby had a heart rate of 176 bpm, a nuchal fold of 1mm, and a nasal bone present. With pgs normal embryo this has an extremely low chance of downs and this is not an actual positive for anything at all. Ultrasounds indicate kid is normal. Or what kind of information they should expect to get. Posted by u/-SHMOHAWK- - 3 votes and 5 comments Just posting here for some insights/vent session. 3mm) diagnosed at 13+3. So I don't have any info on different results yet, but I am hoping that they only confirm things are fine. We made a more public announcement at about 13 weeks. We mainly did the testing to find out gender early and make sure baby was low risk. I had a nt of 3. I had one last week. I feel like I wont be settled till my 12 week scan and NIPT test. I can't believe that they won't allow you to do PGS testing with your history. I remember that the test includes Prader Willie Syndrome and many others much rarer than conditions like T21. The embryo is PGS tested. He does not have Down Syndrome! They then tested 70 cells and two cells came back positive for t21. If I had to pay OOP for the NIPT, I probably wouldn’t have done it, but since it was covered, I figured the more info the better. However I opted into the 2nd trimester quad screening because it also screens for neural tube defects, which aren't genetic and aren't screened by NIPT. ) My first born daughter was born with Down Syndrome when I was 21. you have nothing to worry about After 4 pregnancy losses between the ages of 37-39, of which 2 were confirmed to be due to non-inherited chromosomal aneuploidy, and another is highly likely to have been caused by same (blighted ovum), I proceeded with IVF specifically to take advantage of PGS/PGT-A testing to try to reduce the likelihood of a 5th pregnancy loss. This will be a non issue. Testing after d&c showed it was a chromosomally abnormal embryo (trisomy 22). Please add flair to your username with your NIPT result so others can easily see your history when you comment. I did donor eggs with PGS testing and also did NIPT. I was all set NOT to do an amnio but then I had an elevated NT scan (3. 8 mm. If needed, you can also choose to do amniocentesis or CVS test to check further. But I wouldn’t ever have one with this result after a PGS transfer and normal scans, even normal first trimester labs.
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