Got an amnio which confirmed full trisomy 18. My husband is also familiar with the other duplicated genes, and their roles, and it's just too scary to move forward with the pregnancy knowing everything that could go wrong. I have seen so many false posi, Hey lovely, it's really tough and it sounds like you've had abad time too so understandable. This is specifically for an actual high risk for ONE of those on the NIPT. We are in the same situation. If he has this as well, then it would be considered benign. So many people told me it would most likely be a false positive because I had normal scans. It's Just so hard to overcome when it happens to you. It's mainly used to screen for Down's Syndrome and two other chromosomal anomalies, Edwards Syndrome and Patau Syndrome. Unlike the NT test which has many shortcomings. Genetic counselling appointments are covered by OHIP for individuals who fulfill referral criteria (Ontario Health Insurance Plan). False negative results can occur when an insufficient amount of fetal cfDNA is present in the sample, resulting in masking on the fetal phenotype by the maternal cfDNA. I didn't want to know the gender but my husband did, so I thought, 'All right then. Like I said, this is our first pregnancy and we are so scared. I just did the nipt test and I am not concerned about having false negatives. hence false negative on nipt through materniT21. Claire Bell did not have an invasive test, because the more she read about the NIPT test as a method of screening for Turner Syndrome the more sceptical she became. 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. Has anyone had negative results on their NIPT test everything normal but had a bad anatomy ultrasound at 20 weeks I'm scared they say my babies hands are clutched and they can't see he's toes and 2 spots that are dilated on this brain! Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. Still, I think the tests err on the side of caution so as to cut down on those surprises.. It is a very accurate test from what I know. On Tuesday I had another scan done and I made them redo the NT measurements and guess what? For five years, Claire Bell's husband was treated for two types of cancer. It adds: "We will continue to work to professional standards while enabling men and women the right to choose. He has brought so much joy to our lives. But the information Claire was sent by the clinic painted a very grim picture of life for people with Turner Syndrome. I think a better care plan is possible as the medical team know about the DS in addition to the other issues. My doctor cud tell from US that my uterus had not contracted during the procedure, so I was allowed leave quite quickly-- I think if there was contraction they wud have kept me a whole to make sure it settled down. X, For my friends little one he came back high risk at 12 week, so they had NIPT which was low risk. Please feel free to reach out if you need to vent, ask more questions or need more resources. 2005-2023Everyday Health, Inc., a Ziff Davis company. Group Black's collective includes Essence, The Shade Room and Naturally Curly. HI! "I ran towards this phone and while I was standing there, shivering in a towel, the doctor told me that my baby had a chance of having Turner Syndrome.". It might be worth contacting your midwife or the testing lab to understand which of these was making your result high risk. Just over a week later, while Claire and her husband were on holiday in France, the phone rang. "We just felt we didn't have the emotional reserves, after dealing with five years of cancer treatment.". The advertise a very low false positive rating but don't mention the false negatives. Those first and second trimester screenings are evil in my opinion. But that isn't the case for rarer conditions like Turner Syndrome. I had a negative NIPT at 14 weeks but at the 20 week ultrasound they found an AVSD so I had an amnio and that is when they diagnosed my son with mosaic Down syndrome- pretty rare as it only accounts for 1-2% of all Down syndrome cases. Im sorry youre dealing with this! You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. My midwife really doesn't seem to think an amnio is warranted in my case with a soft marker (thick nuchal fold), because I had a negative Harmony. This occurs when there is a problem with the fertilized egg, most commonly a chromosomal disorder that makes the pregnancy non-viable. This educational content is not medical or diagnostic advice. Google nhs counselling self referral xx, NIPT as already said is highly accurate!! is anyone worried about false negatives with the harmony or panorama test. Medical professionals agree that for Down's Syndrome and some other conditions, the technical accuracy of the test is the right level to give helpful guidance. In a normal pregnancy OHIP pays the physician for a maximum of one complete and one limited ultrasound. By accepting all cookies, you agree to our use of cookies to deliver and maintain our services and site, improve the quality of Reddit, personalize Reddit content and advertising, and measure the effectiveness of advertising. I'll take 1 in 70,000 any day over 1 in 7 PLEASE READ THESE LINKS - this will explain everything. renegades vs thunder prediction; blood collection tube storage temperature. Any advice would help or if someone has had similar experiences. She also read about one woman whose doctor had told her the test was so unreliable you might as well flip a coin. PLEASE READ THESE LINKS - this will explain everything. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. Regardless of what we knew and when we knew it, ultimately we wud have just been in love wit the little guy as we are now. It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. Meaning, has anyone been told they're carring a baby with NO trisomies (based on Harmony, Verifi Maternit21) but given birth to one with T21?? I had my AFP blood test done last week and I am worried that the results may come back with positive results but I am going to choose to focus on the Panorama. I am a bot, and this action was performed automatically. My odds are 1:16 so even if Harmony comes back clear I feel like I will still want to do amnio. Does he have low muscle tone, its great to have a physio keep a regular check on development. Full karyotype came back. The #1 app for tracking pregnancy and baby growth. Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. cyclocross nationals 2021 location; best gloves for goalkeepers; fine line tattoo after 10 years I just had my nuchal translucence ultrasound at 13 1/2 weeks, and the doctor measured an increased thickness in nuchal translucency, which is an indicator of chromosomal abnormality or heart defect. I had a NIPT after a high risk screening result at 12 weeks. She signed up for the test at a private IVF clinic. If the screening test shows that the chance of having a baby with Downs syndrome, Edwards syndrome and Pataus syndrome is lower than 1 in 150, this is a lower-chance result. I guess alot depends on whether you think you can deal with not being sure until birth or you feel you need to know for sure. Slipping into journalist mode, Claire talked to the laboratory that tested her blood and asked how often they followed up to find out whether a baby given a test result indicating a high risk of Turner Syndrome actually turned out to have it. Ughyes, I'm very aware that the risk of a miscarriage, although slim, is one of the drawbacks. Can NIPT tests be wrong? Im in the same boat as you tho I had the ultrasound with the markers which gave me 1:3 chance with my age and then took the Harmony test which came back less than 1:10,000. Our son just turned 1 and hes doing fantastic!!! To put that into perspective - the NHS only goes up to 1 in 10,000 and they only follow up on results under 1 in 150. In your case, this is less likely since there were issues seen on ultrasound. It was the blood test and my maternal age of 36 years. In its statement, the clinic says it "supports best evidence-based practice for all patients, and believes that it continues to operate ethically, professionally and in the best interest of the patient". thats great, I was so worried until the karyotype confirmed my daughter has T21, as she was our first. We went ahead with the amnio and sadly our daughter did have a chromosome issue which wasnt in the top three and we have just gone through a TFMR at 23 weeks. If youre still worried, go for the amnio. I want to highlight again that this was a personal decision that my DH and I had to make together and we feel confident that we'll be able to move forward without worrying but that there is no correct formula/answer for everyone going through this. I wondered for 5 months and it was rotten. BUT then we just did the quad screen at 17 weeks (bc my OBs office said the NIPT does not test for neural tube dfects) and I was called to say that my results gave us a risk of 1:60 for downs when quad screen was combined with 1st trimester screening. I never even knew there were different types of Down syndrome. I did the Panorama NIPT at around 10 weeks and had a fetal fraction slightly over 15%. , Honestly the thoughts of the amnio wer worse than the actual experience. "There is an ideology in the private sector that the more the better," he says. We were in a daze at the time. And the only way to check for that is an amnio. The micro-array test will take 10-14 days and I assume it tests for everything, including mosaic disorders, but I will be sure to ask the genetic counselor about this to make sure! My NT measured 1.0-1.1 and at that point I was given a 1:565 "score" at 12 weeks. Yes, we had a false negative for Trisomy 18. My sister had a high risk combined test followed by a low NIPT and baby was born very healthy no conditions at all and is a thriving four year old now. But since I got reassurance first and then they confirmed this soft marker (but probably the most damning soft marker), now Im questioning if I should trust the test. I appreciate all of your responses and Ive really enjoyed learning about the Down syndrome community during this waiting period. Please specify a reason for deleting this reply from the community. We respect everyones right to express their thoughts and opinions as long as they remain respectful of other community members, and meet What to Expects Terms of Use. apparently they suck at looking for anything other than trisomies. My OB says she has not seen it but since this testing is so new the sample size is not huge. "You can't terminate a baby because she might be short, flat-chested and can't do maths," her aunt said. I had a 25% chance if trisomy 18 on my NIPT with normal NT scans and ultrasounds until 20 weeks when the only marker was an AVSD (hole in the heart). NIPT has been available privately in the UK since 2012 and is available to any woman or couple who want to pay the bill of up to 500. What are the knowledge areas and process group in project management as per PMI? There are always chances for the blood tests to be false and apparently even the amniocentesis would have a 300% increase in false positives if doctors allowed everyone to get them, so they screen through age and other characteristics first, then the blood test, and then the amniocentesis to increase the accuracy. The #1 app for tracking pregnancy and baby growth. She just said "I want to confirm but the baby won't cooperate but I'm confident in the one measurement". But later in the day, Claire spoke to a friend who encouraged her to find out more about the test. Did you end up doing an amino? I need to take control and stay positive! At 11 weeks we had a great NT +1st trimester screen, but additionally did Harmony (NIPT) and were told we had a 1:10,000 risk for the test trisomies. IF I had been told that a) its not reliable for edwards and b) knew about all of the other chromosome issues that could be possible we would NEVER have wasted 400 on a harmony and spent weeks bonding with a really poorly baby who would not have made full term. our test came back negative across the board. Find advice, support and good company (and some stuff just for fun). Of course now I'm worrying myself sick that it might be a false negative and I read somewhere that NIPT tests for women under 35 are not as accurate. Firstly thank you so much for your reply, I appreciate it so much! the measurement came back at 1.5.. Normal! NIPT is a simple blood test that analyzes the babys DNA in the mothers blood, looking for chromosomal abnormalities. First time pregnancy here.Im 32 years old living in Canada. Just waiting for results. 2023 BBC. My dr said I have a choice to have the harmony or do an amino. Hey there Im so sorry youre here. I would say with a negative test and no strong markers you should be fine getting a define test sounds like it will put your mind at ease and let you enjoy your pregnancy. I'm thinking of asking for a NT remeasure. Well I would be more confident if she would have spent a bit more time. Thank you so much x, For my friends little one he came back high risk at 12 week, so they h, Aww thank you so much for sharing this! thank you:) he is doing really well! I am a med scientist by profession and I guess all I can say is that a screening test is a screen not diagnostic. I got the FISH results from my CVS back already, and it is also negative. This is a thread about what to do while you pass time in limbo: https://www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/. The reason I ask is because I had it done at 10 weeks and everything came back low risk. so at this rate I'm just waiting for the results from the harmony test .. trying to be patient and we meet with the genetic counselor on Tuesday. It took a few minutes as the needle is extremely fine and they wanted to collect a decent sample, over 10ml drawn I think. After this head over to this post about the actual individual results: https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/ IF YOU HAVE A POSITIVE FOR TRISOMY 13, TRISOMY 18, TRIPLOIDY and NORMAL SONOS for NT scan and further normal sonos, PLEASE READ CAREFULLY about CVS vs AMNIO. I had the NIPT test done at 10 weeks and it came back negative for everything, with a 1 in 10,000 chance of Down's. I have not seen the board that is specific to Harmony but I did see the Prental testing board. I live in Canada, and did Panorama by LifeLabs. Not long afterwards, writes the BBC's Charlotte Hayward, she received what appeared to be terrible news. Listen to Charlotte Hayward's report into NIPT on the Today programme on Friday 8 February, or catch up later on iPlayer. - BabyCenter Canada Not to be judgemental but the tech that was measuring me seemed like he didn't really know what he was doing. It means, for example, that five out of every 100 healthy people tested will get a health scare: a false positive. Best of luck! 1997-2023 BabyCenter, LLC, a Ziff Davis company. But this was not the case and I dont like the false hope is helpful. ', "At that point I thought, 'Is the onus on me to ask more questions about that box?' Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. I know that wasnt a dont worry, your baby is fine, but I hope it was still a little helpful. 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Result high risk Hayward 's report into NIPT on the Today programme on Friday 8 February, or future. 1997-2023 BabyCenter, LLC, a Ziff Davis company Down on those surprises MFM. Ob says she has not seen it but since this testing is so new sample.