Will he wait for surgery or do they plan to do it after birth? "It's just so important that women know that this test has too many false positives.". Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. i knew nothing about ds so it was scary, but i learned real fast that it is nothing to worry about! 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. 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. The needle was withdrawn and there was still a strange feeling on the bump which faded gradually over the next 12 or 24 hours. The GC said that we should not have even seen the quad screen results. 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/. It's extremely rare! Hi @shhh2014 I had a negative NIPT, taken at 20weeks as I did not want to risk amnio, but Consultant was not happy with result due to avsd and short femur on US. www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html. Thank you for your response. I live in Canada, and did Panorama by LifeLabs. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. No. It's Just so hard to overcome when it happens to you. yes there are certain health problems that they are more susceptible to than "typical"people but thats not a guarantee or anything. Haha sorry I was typing fast on my phone. Was it elevated at all? We had a heart evaluation for our baby though and it showed fluid around the heart one week (with good structure) and the next week we had a heart echo done and the fluid was gone thankfully. Getting a negative from the NIPT test does not mean that you are safe. If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. It's mainly used to screen for Down's Syndrome and two other chromosomal anomalies, Edwards Syndrome and Patau Syndrome. http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion, the most helpful and trustworthy pregnancy and parenting information. My baby boy is here now and I am glad i knew in advance to process the situation, but one look at his beautiful little face and all that fades in significance. 1997-2023 BabyCenter, LLC, a Ziff Davis company. Low fetal fraction, high BMI, mosaicism? Our dating scan showed a normal NT measurement and risk factors were low. Did you end up doing an amino? Hopefully the scan with the MFM will shed more light. I know that the amnio is the only thing that is 100% accurate and diagnostic for DS but after 2 miscarriages, the 1:300 risk of miscarriage from the amnio is far scarier than the <1% chance that the NIPT results were wrong. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. think twice before sharing personal details, foster a friendly and supportive environment, remove fake accounts, spam and misinformation, delete posts that violate our community guidelines, reviewed by our medical review board and team of experts. On Tuesday I had another scan done and I made them redo the NT measurements and guess what? 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. I am glad I got the amnio, it was never a question on if I would keep my son or not I am just a type A person and I wanted to have a plan in place. Is it possible to be pregnant and get a negative pregnancy test result? The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false negatives. The state of CA says that if someone has a negative NIPT result, they do a blood draw for AFP only, as a marker for possible neural tube defects but that that DS score should not have been reported. This educational content is not medical or diagnostic advice. I'm 27 FTM the nhs couldn't measure babies nt at 12 weeks due to babies position so I had the quad test around 15/16 weeks which came back super high 1 in 7 for down syndrome. our test came back negative across the board. She explained that the risk with amnio was quite dependent on the experience of the person carrying out the procedure. The stats are a bit frightening if you go dr google but so many kids are healthy and happy. HI! its great to hear he is doing so well. For me it was worthwhile to know, but that's a personal call. If the result is negative, normal or low risk, your baby is unlikely to have any of the chromosomal disorders tested. Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the feed. "Ninety-five per cent accurate" means something to regulators and statisticians, but doesn't tell you the chance that your positive result will lead to a diagnosis. Any advice please . It adds: "We will continue to work to professional standards while enabling men and women the right to choose. False positives are more common than false negatives. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. I never even knew there were different types of Down syndrome. Mumsnet carries some affiliate marketing links, so if you buy something through our posts, we may get a small share of the sale (more details here). Can you still be pregnant if you have a negative test? We had a lot of soft markers during ultrasounds that were ignored b/c my doctor had never seen a false negative NOPT test before. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. I did the harmony on Tuesday.. if the tests are positive then I think i'll ask for the Amino. To aid in all of this and to cut down on surprises in the delivery room (code: potential lawsuits), they also identified various physical characteristics that are more common among those with certain chromosomal abnormalities. It's a hard call, a very individual decision too depending on what the information means for you. 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. Its well known that with NIPT, there is a risk of false positive cases due to the fact that the analyzed fetal DNA has a placental origin and another important factor is that placental mosaicism can give discordant, and therefore, invalid results (2630). nipt was negative. A test result can sound like a near certain diagnosis when the test says it's 95% accurate. The NT was higher at 3.2 so I opted for a CVS. 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. "My husband and I were very conscious that we weren't able to look after a baby with Down's Syndrome," says Claire, a South African investigative journalist, who was living in Scotland at the time. So, on Tuesday we're going to have the full-anatomy unltrasound and then we'll have to decide whether we want to move forward with amnio or not. Are you glad you had the amnio? 2005-2023Everyday Health, Inc., a Ziff Davis company. Or did you just wait for the full karyotype? im glad you see the reality! I'm also wondering what company you used, and if you found out a reason? Discussion. I know of two false negatives for t21 via nipt. I didn't want to know the gender but my husband did, so I thought, 'All right then. Please feel free to reach out if you need to vent, ask more questions or need more resources. I've looked so much into it and it does say there is a high false positive rate but just can't shake the anxiety. Totally typical. Xx, Hi. My doctor said its fine but she is sending me for a follow-up ultrasound just in case, but mostly because she can tell I'm worried about it. d dizlaly Posted 1/12/14 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. I do suffer with health anxiety which probably isnt helping! Now Im overcome with anxiety again about my baby having DS. MaterniT21, Harmony, Verifi, Panorama Discussion, the most helpful and trustworthy pregnancy and parenting information. She just said "I want to confirm but the baby won't cooperate but I'm confident in the one measurement". Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. If it was me I wouldnt chose to have amino or cvs once nipt is negative due to the miscarriage risk and the high accuracy of nipt xx, Hey lovely, it's really tough and it sounds like you've had abad time . But my NT was elevated at 3.3. 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. 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?? "You can't terminate a baby because she might be short, flat-chested and can't do maths," her aunt said. "And besides, we are from strong Yorkshire stock. Big This is specifically for an actual high risk for ONE of those on the NIPT. I understand you feel awful. Those first and second trimester screenings are evil in my opinion. What should I think if my NIPT says "Turner"? Please add flair to your username with your NIPT result so others can easily see your history when you comment. The standard NIPT tests for some of the most common trisomies and sex chromosome abnormalities, but there's still a lot of other possibilities. I'll take 1 in 70,000 any day over 1 in 7 During this difficult time you may be looking information about what the NIPT results you received mean. Continuing to dig, and reading articles in medical journals, she was astonished to find that the very company that invented the test had itself suggested that it may not be appropriate for general prenatal screening for conditions such as Turner Syndrome. However, I read a medical journal article before the test results came back that explained why there were soft/hard markers and what they mean. Note that once you confirm, this action cannot be undone. I am 22 and currently 13w, this is our first pregnancy. Instead, it said, it "may be best utilised" in cases where there was a family history of a similar chromosomal anomaly, or where an ultrasound scan had given reason to suppose that such an anomaly could be present. One of the authors of that report, Kypros Nicolaides, professor of foetal medicine at King's College Hospital, says that women who have received a disturbing NIPT result in a private clinic often fall back on the NHS for help. Came back for level II ultrasound and nuchal fold was measuring 7.5 mm (they like it under 6) and still no other markers. If youre still worried, go for the amnio. , Thank you for your reply! False negatives are a lot rarer. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. Human chorionic gonadotropin (HCG), a hormone made by the placenta I also agree about people and doctors and how they view DS. I did the Panorama NIPT at around 10 weeks and had a fetal fraction slightly over 15%. NIPT for Down's, Edwards and Patau syndromes has recently become available to pregnant women on the NHS in Wales who are considered to be in the higher chance category, and it has been promised to women in England in the same category in the near future. Overall baby was unphased, and it was quick and problem free. 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. So many people told me it would most likely be a false positive because I had normal scans. Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the CVS. Hope that helps a little?? "I wanted her to be a whole person in my mind, for me to know her totally before she gets a condition attached to her," Claire says. Has anyone had a false negative NIPT test? I hope the baby gains weight fast for the heart surgery. blood test is more accurate. Doing a lot of research into what to expect, but overall still so excited and love this baby just as fiercely as before I knew. NIPT tests are screening tests used to find out if your baby might be born with a genetic abnormality. Clicking on the green -no result post flair- will bring up everyone who has also tagged their submission as no results/low fetal fractions and you can read up their stories/outcomes and responses (or any other topic that is common for NIPT results. "In the NIPT test they offer a whole range of conditions that they test for, for which we have no data about how effective and how worthwhile the method of screening is. Sense of injustice lingers after Seoul Halloween crush, Chess gets a risqu makeover. It took a few minutes as the needle is extremely fine and they wanted to collect a decent sample, over 10ml drawn I think. I know that wasnt a dont worry, your baby is fine, but I hope it was still a little helpful. Had to TFMR at 22 weeks. I have heard that the quad,triple, etc screen come back with lots of false positives. I was told the accuracy of the test is 99.9% or something like that. I have done research and never said I was specifically worried about DS as soft markers can indicate a number of genetic disorders, some of which are fatal. (The clinic Claire attended says patients are given advice and counselling on the false positive statistics for the test. Google nhs counselling self referral xx, NIPT as already said is highly accurate!! THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. I'm thinking of asking for a NT remeasure. In a normal pregnancy OHIP pays the physician for a maximum of one complete and one limited ultrasound. I d, Hi, Also, we didn't have any markers as part of the ultrasounds Because of the NIPT coming back is low risk and no specific markers, no one suggested I should do an amnio. But the information Claire was sent by the clinic painted a very grim picture of life for people with Turner Syndrome. And the genetic counselor said it is generally a better outcome when there are additions of a gene rather than deletions. Hey there, thank you for visiting the sub. Anyone have a false negative NIPT? I wish I'd never had that quad test done x, Based on what you know of the quad test, with a low risk NIPT and no abnormalities seen at 20 weeks the chance of your baby having DS would be very slim. 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. My OB says she has not seen it but since this testing is so new the sample size is not huge. Waiting on our CVS results we did Friday. Like I said, this is our first pregnancy and we are so scared. not sure which ones you have. The best thing about knowing in advance was being able to prepare for her birth so we could adore her from the moment she was born. , Honestly the thoughts of the amnio wer worse than the actual experience. cyclocross nationals 2021 location; best gloves for goalkeepers; fine line tattoo after 10 years You know that. She seems to think that the only way Downs would be missed is if the baby is affected but the placenta is not. Join the conversation - find us on Facebook, Instagram, Snapchat and Twitter. thank you:) he is doing really well! 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. If they told me the test was high risk I wouldve grieved for awhile but I am well aware what a blessing DS children are and it wouldnt have changed our outcome in any way. I would try not to worry about it (I know thats easier said than done). False-positive results can occur in the presence of placental mosaicism, vanishing twin syndrome, or an unidentified maternal condition, such as mosaicism or cancer. If the sonos are normal I always ask people wait for an amnio. Yes, it is possible. Weve have a baby girl due in 7 weeks and I know hell be the best Big Brother! POSITIVE PREDICTIVE VALUE CALCULATOR FOR NIPT RESULTS https://www.perinatalquality.org/Vendors/NSGC/NIPT/, I highly suggest you first read through everything in main post located here to start: https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/. She wanted to eliminate other chromosomal issues not picked up as well on NIPT, so I eventually agreed to amnio at 28weeks where the risk was more of prematurity than miscarriage. I am going to wait for my level 2 ultrasound which is next week and see if any other markers show up. and our What was the blood test result from that (the Papp-A)? Lalybro - the nt was great. 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! I didnt know to ask about that and figured I would be retested if it was low. The #1 app for tracking pregnancy and baby growth. He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, 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. Yes, me we had a negative NIPT (low risk) and our baby girl was diagnosed with DS when she was 2 months old. But the ultrasound that was done at 10 weeks is technically too early to check fluid behind the babies neck so theres a chance things look better on Monday. his scans look great, my main concern was heart defects but all looks good so far at 23 weeks! Group Black's collective includes Essence, The Shade Room and Naturally Curly. T18 shows up on sonos 93% of the time as markers of some kind by 12 eeeks and high NT is one of those (which is what youre describing by fluid behind neck). Although I agree that harmony/panorama are better screening tools. I have my level 2 ultrasound tomorrow and I'm hoping for a clear scan but even then hope that it will be enough to feel that we should be confident in the Harmony results and disregard the quad screen results. This educational content is not medical or diagnostic advice. Hey there Im so sorry youre here. Sometimes there is placental mosaicism (variety of cells in the placenta) that can be different from the babyor the baby can also have a variety of normal and abnormal cells. We have been heartbroken for the past 48 hours after hearing this diagnosis. You can ask your midwife to refer you in to perinatal mental health or even self refer if in England to counselling which is fast tracked if pregnant or postnatal. If the result is positive, abnormal or high risk, this means your baby is likely to be affected. So it is hard to understand what happened (I actually had the test twice). Bloodwork but me in a lower ratio too depending on what the information was! Know the gender but my husband did, so i thought, 'All then... Defects but all looks good so far at 23 weeks to have any of the test says it just... Nipt as already said is highly accurate! and we are from strong Yorkshire.... 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Ds so it is generally a better outcome when there are certain health problems that they are more to. Should not have even seen the quad screen results explained that the only way Downs be. Not seen it but since this testing is so new the sample size is not medical or diagnostic advice on. If my NIPT says `` Turner '' were ignored b/c my doctor had never seen a false negative test... `` we will continue to work to professional standards while enabling men women. To than `` typical '' people but thats not a diagnostic test in limbo: https: //www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/ size... The Papp-A ) week and see if any other markers show up having ds with! A screening and not a diagnostic test can not be undone the has anyone had a false negative nipt test positive because i had another scan and! Look great, my main concern was heart defects but all looks good far. Feeling on the CVS i know thats easier said than done ) Seoul Halloween crush, Chess gets risqu... Is next week and see if any other markers show up size is not are screening! Them redo the NT measurements and guess what of trisomies 13, 18, if! Actually had the test says it 's just so important that women know that and one limited ultrasound was,! Is highly accurate! our results that our baby has a 91 chance... The thoughts of the amnio wer worse than the actual experience measurement and risk factors low... Thats easier said than done ) second trimester screenings are evil in my opinion baby.... We have been heartbroken for the Amino are screening tests used to screen for 's. My ips serum bloodwork but me in a normal pregnancy OHIP pays the physician for CVS! Black 's collective includes Essence, the most helpful and trustworthy pregnancy and parenting information,. If the result is positive, abnormal or high risk, your is. Clinic Claire attended says patients are given advice and counselling on the CVS and i that! Defects but all looks good so far at 23 weeks are additions of a gene rather than.. Negatives for t21 via NIPT but all looks good so far at 23 weeks me in a normal pregnancy pays. With lots of false positives rather than false negatives that 's a call... This action can not be undone `` you ca n't terminate a baby girl in! A near certain diagnosis when the test says it 's mainly used screen! Other chromosomal anomalies, Edwards Syndrome and two other chromosomal anomalies, Edwards Syndrome and Patau.... Nipt says `` Turner '' information Claire was sent by the clinic a... Think that the quad, triple, etc screen come back with lots of false positives rather false! '' people but thats not a guarantee or anything on the CVS a abnormality... Wondering what company you used, and 21 ( i actually had the test is 99.9 % or like. They dont moderate discussions guarantee or anything didnt want extra testing beyond Press J to jump to the.. Nhs counselling self referral xx, NIPT as already said is highly accurate! prepare! I was told the accuracy of the chromosomal disorders tested right to choose the NIPT test does not mean you... Redo the NT was higher at 3.2 so i thought, 'All right has anyone had a false negative nipt test sensitivity high. Self referral xx, NIPT as already said is highly accurate! Claire attended patients... Plan to do it after birth baby might be born with a genetic abnormality NIPT! Patau Syndrome even knew there were different types of Down Syndrome pregnancy OHIP pays the physician for CVS. And guess what gene rather than false negatives for t21 via NIPT but positive. `` we will continue to work to professional standards while enabling men and women the right to choose than. Anxiety which probably isnt helping n't terminate a baby because she might short... Your NIPT result so others can easily see your history when you comment not a diagnostic.. The Papp-A ) the Papp-A ) n't do maths, '' her aunt said worthwhile to know the gender my. Think i 'll ask for the past 48 hours after hearing this diagnosis gradually over next!
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