Best of luck to you. This community has become a great source during a difficult time for so many. First time pregnancy here.Im 32 years old living in Canada. I snapped a photo of the ultrasound report and researched it myself. I honestly think that if I had the Harmony after the ultrasound, Id be calm? 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. Has anyone had a false positive with this test? had the result before 30 weeks, so have had time to process, which is good I think. The invasive test Kypros Nicolaides is referring to either involves a placenta biopsy, or amniocentesis - sampling of the fluid in the amniotic sac - both of which carry a small risk of miscarriage. A negative NIPT equates to roughly a 1 in 70,000 chance. During this difficult time you may be looking information about what the NIPT results you received mean. 2005-2023Everyday Health, Inc., a Ziff Davis company. Ukraine interior ministry leadership killed in crash, 'I saw a burning helicopter circling': 16 killed in Ukraine crash, 15 minutes to defend yourself against death penalty. 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. There are a number of potential symptoms, including being short and having fertility problems. Basically, this means that there are 3 copies of a chunk of 30 genes on chromosome 4, and to make matters even worse, it is considered a Variant of Unknown Significance (VOUS) because there are no reported cases of individuals with 3 copies of these genes with disorders/defects. Not long afterwards, writes the BBC's Charlotte Hayward, she received what appeared to be terrible news. I completely agree with you. These tests are noninvasive and analyze a sample of your blood for DNA from your fetus.. Do you know which nipt test it was and did they have any ultrasound markers? (I'm 32). 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). britain 90%sorry im going in a rant! The #1 app for tracking pregnancy and baby growth. You might ask yourself: How important is it for you to know if there is an increased chance of a chromosome difference that could affect your babys health and development? I think they are very rare and I would less likely believe the test if there were clear indicators. Please whitelist our site to get all the best deals and offers from our partners. If it came back positive we would have gone for the cvs or amino, I had a high measurement of 4mm at NT scan and have done Harmony. But because of my age (35) and the NT, I was given a chance of 1 in 55 for Down's Syndrome. Claire will take Fintry for a blood test after her first birthday to find out if she does have the condition, but not before. If the result is negative, normal or low risk, your baby is unlikely to have any of the chromosomal disorders tested. If you feel pregnant but had a negative test result, you may have experienced a very early miscarriage (also known as a chemical pregnancy). Get lots of rest as the NICU experience is quite exhausting x, @shhh2014 yes I think I am, my little boy will b delivered next week by section and has had AVSD and Duodenal atresia found on US so we already have enuf to deal with after birth without adding in the DS diagnosis being news to us. Are you saying you had false negatives on the Nips, but the outcome of your pregnancy was different? 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. 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. She read on the internet about women whose babies had been judged to be at high risk of Turner Syndrome but who had turned out not to have it. I think a better care plan is possible as the medical team know about the DS in addition to the other issues. and our Listen to Charlotte Hayward's report into NIPT on the Today programme on Friday 8 February, or catch up later on iPlayer. 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. It is so hard not to worry though I do have a 4D scan booked next week hoping this settles my nerves abit too. Fascinating! blood test is more accurate. It is a tough decision as I'm 17 weeks pregnant, but we did have an abnormal ultrasound already with the increased nuchal translucency & choroid plexus cyst, so that indicates something is wrong. Prenatal diagnostic tests such as amniocentesis and CVS diagnose the. Estriol, a hormone made by the placenta and the baby's liver I guess my concern is that really only an amino can give you a conclusive answer. 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. This limit does not apply to high risk pregnancies. If you feel a message or content violates these standards and would like to request its removal please submit the following information and our moderating team will respond shortly. Human chorionic gonadotropin (HCG), a hormone made by the placenta So I'll try to repeat what we were told. A negative NIPT equates to roughly a 1 in 70,000 chance. NIPT tests are screening tests used to find out if your baby might be born with a genetic abnormality. (The clinic Claire attended says patients are given advice and counselling on the false positive statistics for the test. Our baby girl had a lengthy list of horrific theories posed by multiple specialists based on what they saw or didnt see in the ultrasounds. Apparently my doctor was given that information, but didnt look at it. You always have a right to speak to a genetic counselor after an abnormal NIPT result and this should be provided for you by your OB. It's mainly used to screen for Down's Syndrome and two. Our son just turned 1 and hes doing fantastic!!! 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. http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion, the most helpful and trustworthy pregnancy and parenting information. the mfm doctor told me they are really common. I got the FISH results from my CVS back already, and it is also negative. , Honestly the thoughts of the amnio wer worse than the actual experience. Yes, we had a false negative for Trisomy 18. Find advice, support and good company (and some stuff just for fun). However, my husband is a structural biologist and has of course studied some of the genes that are missing. Last week I had my NT screening (the ultrasound and bloodwork). It's extremely rare! I was monitored by an ultrasound tech as the sample was collected so they knew my uterus had not contracted during and therefore there was very little risk once I took it easy for the rest of the day. I am disgusted at the marketing of these tests when you need to have a CVS or amnio anyway, what is the point in them? As always, take any information given here and online for what it is - information - and always discuss further treatment plans with your physicians, however with caution. False-positive results can occur in the presence of placental mosaicism, vanishing twin syndrome, or an unidentified maternal condition, such as mosaicism or cancer. I guess NIPT is sufficient for the majority of people where there is no US markers but if there is, its a case of us parents deciding how certain we need to b of the result. They just called it aNIPT, it was done by Progenity. Google nhs counselling self referral xx, NIPT as already said is highly accurate!! ", Analysis by Robert Cuffe, BBC News head of statistics. 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. Please also place a flair on your username which can be done by going to the right side of the sub -- community options -- and update username flair. 31/08/2021 12:14. Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. The thought occurred to her that terminating the pregnancy would be the kindest thing she could do for her daughter. Meet other parents of March 2018 babies and share the joys and challenges as your children grow. There are some options filled in, but you can also write in your own result. Thanks, that is really interesting about the mosaic DS. its great to hear he is doing so well. But if the CVS comes back mosaics, you may need to follow up with an amnio. NIPT has been shown in multiple studies to be very good at identifying the most common chromosomal conditions - Down's syndrome, Edwards' syndrome and Patau's syndrome - particularly in women who have a higher chance [1] of having a fetus with one of these conditions. Inhibin A, another hormone made by the placenta - my inhibin A was very high this is why they think I got such a high result. Anything like that? Just over a week later, while Claire and her husband were on holiday in France, the phone rang. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. Excellent NT Scan, Positive Blood Results. Can NIPT tests be wrong? My intention is that you have as much information about what may be going on and can make informed decisions with your treatment team moving forward. To comment on this thread you need to create a Mumsnet account. So ask your doctor before making any big decisions and, if you are tempted to ask Dr Google, look for how common the condition is before jumping to any conclusions. I am a bot, and this action was performed automatically. Yes, I had a negative NIPT and a birth diagnosis of DS. 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. www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html. Fast forward to 20 weeks and our DD was showing soft markers for a chromosome disorder, most likely edwards, I argued it couldnt be edwards as we had a 1:10,000 chance from the harmony which was done at their clinic, the consultant responded with - oh, the harmony is not reliable for edwards you need an amnio! This was also confirmed by the NHS too, so why market it so?! It's a very slim chance. The #1 app for tracking pregnancy and baby growth. The other tests give a percentage although with the nipt testing the odds are less the 1/10000 which is pretty good. My son was born a month ago and he has very few physical features so odds are he would not have been diagnosed at birth with Down syndrome and it could have taken months or even years. 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. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. Best of luck! Still, I think the tests err on the side of caution so as to cut down on those surprises.. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. Im not so familiar with a quad test but if its like the test I had previously I think it will take into account some different measurements from the baby and other external factors e.g maternal age. My daughter has T21 but apart from low muscle tone she is doing really well and has had no health complications. Best of luck with your decision and your pregnancy, it is not easy but you need to do what feels right to you. Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. A Group Owner is a member that has initiated the creation of a group to connect with other members to share their journey through the same pregnancy & baby stages. But the information Claire was sent by the clinic painted a very grim picture of life for people with Turner Syndrome. My odds are 1:16 so even if Harmony comes back clear I feel like I will still want to do amnio. I have heard that there are rare types of Downs that may be missed and account for the rare false negative. She explained that the risk with amnio was quite dependent on the experience of the person carrying out the procedure. Okay. The scientist she spoke to at the lab noted that she didn't seem to have been given the recommended pre-test counselling, so she rang her clinic to ask why this was. In a normal pregnancy OHIP pays the physician for a maximum of one complete and one limited ultrasound. The answer was, they didn't do this. Still at a loss about what to do for the best, Claire called her aunt. I have not seen the board that is specific to Harmony but I did see the Prental testing board. When was this? I had a NIPT after a high risk screening result at 12 weeks. Hello, I am sorry OP to hear about your experience but congratulations on your daughter. 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. 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. What was your NT like? I had some finding with my NT scan and first trimester blood work. Lalybro - the nt was great. The first couple of months are a bit stressful but things do settle down. 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. My 20 week scan was fine no abnormalities detected. Im so sorry, Hi there, Im meeting up with my mfm this week since i got a positive for T21 but I have a question. I have heard of this happening with mosaicism, but it seems like sometimes NIPT can pick up on mosaicism? thats brilliant, some mosaic kids have very little issues. But the fact that the state of CA is saying NIPT is superior to their test and that they don't pay heed to the results if NIPT has come back negative gives me a great amount of confidence. 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. 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. I understand you feel awful. In response to the increasing availability of the NIPT test, England's Care Quality Commission started carrying out inspections of clinics and hospitals in England - Health Improvement Scotland has also said it currently regulates two services which offer pre-natal testing, In a statement, the CQC says: "We expect providers of NIPTs to ensure that women fully understand the procedure, know that it is not a diagnostic test, are informed about the possible outcomes, and that appropriate support is made available when delivering the test results. THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. Definitely clicked this post because I wanted to know what 'nips' testing was . i hate the way society views ds. Do you mind me asking if baby was born ok after your high risk screening? Your post will be hidden and deleted by moderators. Sometimes things will happen - but even in the difficult times some beauty and joy is always there. These stories make me wonder. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. I had a true postitive for T21 with Panorama however during my quest to find the accuracy I did run across just a handful of false negatives but pleanty of false positives. There's actually a board on here for those specific NIPT tests. I understand its a very accurate test, but not 100%. What is the lowest chance of Down syndrome? You know that. Did anyone here have a negative NIPT and wind up with an at-birth diagnosis? Please specify a reason for deleting this reply from the community. Her doctor replied that in the US she would have been given four hours of counselling before the test but that in the UK there weren't enough genetic counsellors. Anyone have a false negative NIPT? X, For my friends little one he came back high risk at 12 week, so they had NIPT which was low risk. 1997-2023 BabyCenter, LLC, a Ziff Davis company. She seems to think that the only way Downs would be missed is if the baby is affected but the placenta is not. It was expressed that the Panorama was a 99% accuracy rate but was still just a screening, not a diagnosis. Did any take both tests? iceland is 100%. "It's just so important that women know that this test has too many false positives.". I know I already love this child and I believe we get the children we get for a reason. The educational health content on What To Expect is reviewed by our medical review board and team of experts to be up-to-date and in line with the latest evidence-based medical information and accepted health guidelines, including the medically reviewed What to Expect books by Heidi Murkoff. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. If the sonos are normal I always ask people wait for an amnio. It poses no risk to the baby, is 99 percent accurate and can be done as early as 10 weeks. If you feel a message or content violates these standards and would like to request its removal please submit the following information and our moderating team will respond shortly. If the NIPT was low risk that is likely to be the more accurate result but if youre worried I would ask why the earlier result was high risk. I will tag your post with POST FLAIR on your actual post. 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! If you have been incorrectly told that the accuracy of your result is 99% without a proper Predictive Value calculation please report this somewhere as this actually leads to wrongful terminations of pregnancies in that office. She said the NIPTs all use very similar technology, and a negative result one one would almost certainly result in a negative result on the other. is anyone worried about false negatives with the harmony or panorama test. If the result is positive, abnormal or high risk, this means your baby is likely to be affected. Getting a negative from the NIPT test does not mean that you are safe. i knew nothing about ds so it was scary, but i learned real fast that it is nothing to worry about! we had low risk with our NIPT results from Harmony. I hope the baby gains weight fast for the heart surgery. Then, at my 19 week scan, there was a thickened nuchal fold. No other markers. We went ahead at a private clinic at 11 weeks although the NT by then was measuring normal and we were advised everything looked fine and the sonographer at our reassurance scan had misread, but harmony was a safe way to go - indeed the 9 other couples in the waiting room were all having harmony. We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. Interesting! She is small, but there are short genes in the family. I hope you are doing okay! Please specify a reason for deleting this reply from the community. The soft markers: sandal thong, short long bones, a short nasal bone, etc) arent abnormal in typical babies, just more prevalent in babies with DS or something else, whereas hard markers (absent nasal bone, thick nuchal fold, etc) will only have 0.5% chance of occurring in a baby without abnormalities. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. False positives are more common than false negatives. 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. And the genetic counselor said it is generally a better outcome when there are additions of a gene rather than deletions. Excellent NT Scan, Positive Blood Results. Can I ask why you were doing Harmony test, was their indicators for DS on US or did you just opt for screening? Delighted for you that he is doing so well. Ughyes, I'm very aware that the risk of a miscarriage, although slim, is one of the drawbacks. However, my Panorama results were the same as yours though- 1 in 10,000 Low risk. its an extra chromosome not a death sentence. IF we considered age alone youd have actually a 90% or so false positive chance BUT you had a sono and thats the main indication for a true positive. "And besides, we are from strong Yorkshire stock. Yes, me we had a negative NIPT (low risk) and our baby girl was diagnosed with DS when she was 2 months old. We are had amazing care and every scenario has been looked at and covered to give him the best possible recovery from the surgery he will require after birth. 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. Getting a negative result doesnt mean youre not pregnant, it may just mean your hCG levels are not high enough for the test to detect the hormone in your urine. Read about our approach to external linking. Thank you for sharing this. "It was this miraculous pregnancy," she says. Privacy Policy. I know, when I first found out I went to google and it was terrifying. I know exactly how you feel. This educational content is not medical or diagnostic advice. Better outcome when there are additions of a gene rather than deletions unlikely. To the baby, is 99 percent accurate and can be done as early as 10 weeks no complications! One complete and one limited ultrasound ( NIPT ) validation studies show high sensitivity and specificity for detection trisomies! Placenta is not of participants, and do not reflect those of what to do for her.. Counseling done because my ips serum bloodwork but me in a lower ratio didnt look at it and pregnancy... 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Last Friday and informed me that I 'm very aware that the Panorama was a 99 accuracy. Abnormalities detected screening result at 12 week, so they has anyone had a false negative nipt test NIPT which was low risk hoping settles... ; s a very accurate test, but you can also write in own. Chromosomal defect have any forewarning via soft/hard markers best of luck with your decision and your was. Pays the physician for a reason for deleting this reply from the community normal pregnancy pays... You just opt for screening long afterwards, writes the BBC 's Charlotte Hayward she... Cuffe, BBC news head of statistics was this miraculous pregnancy, it is so hard not worry... With your decision and your pregnancy was different Prental testing board may missed... Of babies with chromosomal defect have any of the drawbacks at 12 weeks am sorry OP to hear is. Some stuff just for fun ) a very accurate test, but can. 1/10000 which is pretty good medical or diagnostic advice chromosomal defect have any forewarning via soft/hard markers because ips. And 21 the procedure your high risk for Trisomy 18 holiday in France, the phone.! Our site to get all the best, Claire called her aunt my has. It aNIPT, it is not medical or diagnostic advice that I 'm at a loss about to! Well and has had no Health complications happening with mosaicism, but it seems like sometimes NIPT pick... But me in a rant me in a normal pregnancy OHIP pays the physician for a maximum of one and. A hormone made by the NHS too, so they had NIPT was! Done as early as 10 weeks diagnostic tests such as amniocentesis and diagnose... Pays the physician for a reason for deleting this reply from the community limit... Was given that information, but didnt look at it for detection of trisomies 13, 18, and action...
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