And the genetic counselor said it is generally a better outcome when there are additions of a gene rather than deletions. Thats wonderful! The thought occurred to her that terminating the pregnancy would be the kindest thing she could do for her daughter. Im sure your little girl will be delighted to be a big sister! I feel like it doesn't help that I suffered really bad last year with health anxiety after a scare. 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. I have wondered the same thing! All prenatal screening is optional. Hope that helps a little?? 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. 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). ", Want help? 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. that being said, if your baby did have DS, there wouldn't be anything "wrong" with him. If youre still worried, go for the amnio. What can cause a false negative Down syndrome test? Then the plan ideally is to do the cardiac surgery when baby is approx 5kg so maybe 4 or 5 months old. The clinic told Claire that she'd get an email if everything was OK, but they'd ring if there was something to discuss. About eight or nine out of 10 cases of Down syndrome are detected (classified as screen positive). But with an abnormal sono and increased NT this time is very likely that this is true positive unfortunately. In June 2018 Claire's daughter, Fintry, was born. Wishing you good results. I feel like it's creeping up on me again. 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. Im sorry youre dealing with this! It means, for example, that five out of every 100 healthy people tested will get a health scare: a false positive. In a normal pregnancy OHIP pays the physician for a maximum of one complete and one limited ultrasound. I will tag your post with POST FLAIR on which you can click and find similar posts about your result. Please add flair to your username with your NIPT result so others can easily see your history when you comment. Did you get FISH results that confirmed your doctors suspicion? Thank you so much for sharing your experience. 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 am 24 weeks today, so I do feel like its late to do the amnio. The Papp-A came back normal. 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 just had my nuchal translucence 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. 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). But if it's a rare condition - say less than one-in-100 - then most of the positive test results will be health scares. But your so right, life is full of ups and downs and unknown situations. I appreciate those who chime in as we all remember how difficult to be in this situation. I felt a little sore on the spot for a few hours, nothing much, and once about 24 hours had passed I was relieved it was done and we would know for sure. Read about our approach to external linking. It's a hard call, a very individual decision too depending on what the information means for you. Genetic counselling appointments are covered by OHIP for individuals who fulfill referral criteria (Ontario Health Insurance Plan). I do suffer with health anxiety which probably isnt helping! Sending prayers and good vibes. You got this mama x, Hi. Hello, I am sorry OP to hear about your experience but congratulations on your daughter. 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. If there are any problems they can be found in the 20 week ultrasound or if you're really worried theRe is always amniocentesis (which carries it's own risks) As far as I know the 12 week scan can cause a lot of false positives but not the NIPT. Ughyes, I'm very aware that the risk of a miscarriage, although slim, is one of the drawbacks. Or did you just wait for the full karyotype? Has anyone had a false negative NIPT test? Trying to take each day as it comes and be positive. Now I stick with some support groups on Facebook because while there is sick kids you also see a lot of happy and healthy kids too. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. The standard NIPT tests for some of the most common trisomies and sex chromosome abnormalities, but there's still a lot of other possibilities. Listen to Charlotte Hayward's report into NIPT on the Today programme on Friday 8 February, or catch up later on iPlayer. What would be considered a normal NT and a high NT? My big question: Does anyone have 1st hand experience with a false negative from an NIPT?? 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. 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. 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. These tests are noninvasive and analyze a sample of your blood for DNA from your fetus.. Has anyone had a false negative NIPT test? I understand you feel awful. 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 really thought I was in the clear from the blood test & was even thinking this extra ultrasound was a waste of time. "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. If youre accepted, your provincial health plan should cover the cost. If he has this as well, then it would be considered benign. I no longer see that doctor. Now Im overcome with anxiety again about my baby having DS. I was simply just asking about the accuracy of the test. It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. "It was this miraculous pregnancy," she says. These stories make me wonder. However, my Panorama results were the same as yours though- 1 in 10,000 Low risk. It isn t common practice in regular pregnancy care to have one this early, but you may have one ordered if there are any concerns. Can NIPT tests be wrong? I know I already love this child and I believe we get the children we get for a reason. "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. Your genetic counsellor will tell you if you are eligible for a genetic test. If we there are any markers during the ultrasound, we'll opt for the amnio (gulp). Consultant had not seem this b4 so presumably rare, referral centre for cardiac care had seen it but only where NIPT done at its earlier limit eg 10wks. It is a very accurate test from what I know. This is helpful to know! 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. Privacy Policy. 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. Is that true? Is it possible to be pregnant and get a negative pregnancy test result? Yep 2020, blood sample collected approx 13 weeks ago. My ultra sound tech spent a lot of time trying get the measurement and the. Check it out. Do you mind me asking if baby was born ok after your high risk screening? I honestly would not spend any time worrying about it being wrong. Congratulations on the birth of your beautiful baby boy. Hopefully the scan with the MFM will shed more light. 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. False positives are more common than false negatives. Press question mark to learn the rest of the keyboard shortcuts, MOD obgyn PA False Positive +T18 girl 2020, https://www.perinatalquality.org/Vendors/NSGC/NIPT/, https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/, https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/, https://www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/. 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. If you have any questions, I'm happy to help! I was told the accuracy of the test is 99.9% or something like that. I am a bot, and this action was performed automatically. False negatives with nipt testing: is anyone worried about false negatives with the harmony or panorama test. Yes, we had a false negative for Trisomy 18. I hope this is a false positive (its possible) but what they see on ultrasound on Monday will probably give you the most information. 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. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. Anything like that? Discussion. I'll take 1 in 70,000 any day over 1 in 7 , Honestly the thoughts of the amnio wer worse than the actual experience. He has brought so much joy to our lives. I completely agree with you. Can you share what your third trimester amniocentesis was like? Baby has mosaic DS. We just wouldve made sure we were prepared and possibly switch where we deliver. Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. We are very similar. Are you saying you had false negatives on the Nips, but the outcome of your pregnancy was different? This occurs when there is a problem with the fertilized egg, most commonly a chromosomal disorder that makes the pregnancy non-viable. 1997-2023 BabyCenter, LLC, a Ziff Davis company. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. 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. It was Harmony, no issue with fetal fraction/BMI etc. 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. Its a very slim chance. 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. (Harmony) They still can't figure out why. Genetic testing is also covered by OHIP, but is only available under very specific defined conditions. FISH results after she was born sleeping in the second trimester came back monosomy 18 and Turner Syndrome so, basically they were failsauce at detecting monosomies. Its so hard to stress about everything when it comes to our babies but youve got all the numbers on your side. 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. 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. Can I be 2 months pregnant and have a negative test? But this was not the case and I dont like the false hope is helpful. First time pregnancy here.Im 32 years old living in Canada. For five years, Claire Bell's husband was treated for two types of cancer. Don't let them stick a needle into you.". Statistics are misrepresented every step of the way with NIPT and this is normalised. It's mainly used to screen for Down's Syndrome and two other chromosomal anomalies, Edwards Syndrome and Patau Syndrome. thank you:) he is doing really well! That being said, we did still have the 1:60 score from the quad, which is worriesome whether we were supposed to see it or not, but after having a clear ultrasound with no soft markers at 18 weeks and no markers at the NT ultrasound combined with the 99.2% reported accuracy of the NIPT, we made a personal decision to decline the amnio. The first couple of months are a bit stressful but things do settle down. Please read top 2 pinned posts & automod message for information about the screen and your result. Were happy hes doing well too! Ive been told not to worry and that soft markers are common, but I cant help but still worry something is wrong. Any advice would help or if someone has had similar experiences. What is the lowest chance of Down syndrome? "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. 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. If you continue to use this site we will assume that you are happy with it. Find advice, support and good company (and some stuff just for fun). He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, Since I had the amnio I have a pediatrician who works a lot with kids with Down syndrome and he is already starting early intervention. Read about our approach to external linking. We have been heartbroken for the past 48 hours after hearing this diagnosis. If the result is positive, abnormal or high risk, this means your baby is likely to be affected. You will see this come up in posts across this sub. My 20 week scan was fine no abnormalities detected. 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? I completely understand and my head hasnt stopped spinning. 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. Hey there Im so sorry youre here. I will tag your post with POST FLAIR on your actual post. If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. Big Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the feed. This educational content is not medical or diagnostic advice. Has anyone had a false positive with this test? 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. 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. Any advice please . The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. However, my husband is a structural biologist and has of course studied some of the genes that are missing. I can't wait to meet our girl! 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 have been told that they arent 100% but can feel pretty confident in the 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! 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. Just over a week later, while Claire and her husband were on holiday in France, the phone rang. Best of luck! There are a number of potential symptoms, including being short and having fertility problems. 20062023 BabyCenter, LLC, a Ziff Davis company. Totally worthless. My NT was slightly less (3.2) but the tech kept saying he couldn't get a good angle. Turner syndrome is a chromosomal condition that only affects girls. If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the CVS. It can take up to 2 weeks to get the result of your NIPT. The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false negatives. The needle was withdrawn and there was still a strange feeling on the bump which faded gradually over the next 12 or 24 hours. Did your doc say what the risk of early labor was in a third trimester amnio? is anyone worried about false negatives with the harmony or panorama test. So I'll try to repeat what we were told. I honestly think you should have faith in the panorama test and not do any invasive testing. I did the harmony on Tuesday.. if the tests are positive then I think i'll ask for the Amino. britain 90%sorry im going in a rant! All rights reserved. Generally quoted at a 1% risk, but she performed it herself and given her experience was confident enough to say she thought the risk was lower than that. Group Black's collective includes Essence, The Shade Room and Naturally Curly. No. 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. I only did the harmony today so I have a bit of a longer wait especially with labour day. 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. I snapped a photo of the ultrasound report and researched it myself. The second she was born, I knew and moved on. 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 negatives are a lot rarer. "We just felt we didn't have the emotional reserves, after dealing with five years of cancer treatment.". It was so helpful. i knew nothing about ds so it was scary, but i learned real fast that it is nothing to worry about! Please specify a reason for deleting this reply from the community. So this is everyone's worst nightmare. having to make a decision like this based on uncertain data. Good luck and stay in touch with your results! But because of my age (35) and the NT, I was given a chance of 1 in 55 for Down's Syndrome. Came back for level II ultrasound and nuchal fold was measuring 7.5 mm (they like it under 6) and still no other markers. 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. Are you glad you had the amnio? and the stats are so upsetting to me too.70% of americans that find out their baby will have ds terminatei truly think its bc of the way the doctors deliver that news, basicalky offering an abortion in the same breath. What was the blood test result from that (the Papp-A)? A second measure would be good. My OB says she has not seen it but since this testing is so new the sample size is not huge. We went with the Harmony. I guess my concern is that really only an amino can give you a conclusive answer. During this difficult time you may be looking information about what the NIPT results you received mean. We go through life and any manner of things can crop up down the line. Excellent NT Scan, Positive Blood Results. Hey there, my daughter was born with a duodenal atresia. And if so , did the nuchal give a positive for Down syndrome or any other need whilst the Nipts said it was negative ?If so which one did you go by ?This is my dilemma. The #1 app for tracking pregnancy and baby growth. And the only way to check for that is an amnio. If you feel pregnant but had a negative test result, you may have experienced a very early miscarriage (also known as a chemical pregnancy). Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. Not long afterwards, writes the BBC's Charlotte Hayward, she received what appeared to be terrible news. They just called it aNIPT, it was done by Progenity. not sure which ones you have. (The clinic Claire attended says patients are given advice and counselling on the false positive statistics for the test. It adds that it "informs patients of all test results in a secure, sensitive and supportive manner" and that while it does not provide specific genetic counselling, it supports patients in collaboration with a consultant obstetrician on aftercare and referral pathways.). In your case, this is less likely since there were issues seen on ultrasound. 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. We decided to do NIPT which after the longest week of my life came back low risk. But when testing for other rarer conditions NIPT hasn't been subjected to rigorous clinical analysis. I just wanted to add that we were recommended to have a harmony due to a large NT at 9 weeks. From the amnio they found baby has a chromosome 21to 21 translocation, advice from the genetics team was that there would be an 100% chance of reoccurrence if we carried the translocation. www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html. Unlike the NT test which has many shortcomings. two problems existed. the mfm doctor told me they are really common. She described some of the other symptoms she had learned that girls with Turner Syndrome can experience - including the fact that they are not intellectually disabled, but may struggle with spatial reasoning and mathematics. Note that once you confirm, this action cannot be undone. It's mainly used to screen for Down's Syndrome and two. The #1 app for tracking pregnancy and baby growth. i hate the way society views ds. Regardless, NIPT can be wrongit tells you risk of having something but does not tell you if the baby has a genetic issue. Where can I find episodes of Tom and Jerry. I had never heard of mosaic until I started researching reasons for false negative NIPT results. She also read about one woman whose doctor had told her the test was so unreliable you might as well flip a coin. I took Harmony early in my pregnancy because Im 36. But if the CVS comes back mosaics, you may need to follow up with an amnio. Totally typical. Apparently my doctor was given that information, but didnt look at it. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. 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. Then with the results came time to process what that meant for us and our little boy, but that had to happen too, glad I'm now in a better place for his arrival. First time pregnancy here.Im 32 years old living in Canada. 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. Yes, I had a negative NIPT and a birth diagnosis of DS. Please feel free to reach out if you need to vent, ask more questions or need more resources. nipt was negative. Interesting! Since there are abnormalities on ultrasound, it makes sense to do a CVS. I just did the nipt test and I am not concerned about having false negatives. My doctor had never seen a false negative before so it is pretty uncommon. The stats are a bit frightening if you go dr google but so many kids are healthy and happy. I d, Hi, 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. It adds: "We will continue to work to professional standards while enabling men and women the right to choose. The reason I ask is because I had it done at 10 weeks and everything came back low risk. Why do I feel pregnant but negative tests? Thank you for your response. In this retrospective study, a total of 81,601 pregnancies were analyzed using next-generation sequencing-based NIPT, and only 0.01% had false negative results, which is in accordance with a previous study (Suzumori et al., 2019). 1997-2023 BabyCenter, LLC, a Ziff Davis company. 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. She signed up for the test at a private IVF clinic. She called back the doctor who had told her about her result on the phone and asked if this could be correct. This means that one or two out of 10 pregnancies with Down syndrome are missed (classified as screen negative). I had some finding with my NT scan and first trimester blood work. 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. Of course I want my child to be healthy and not have to face the challenges that a lot of these disorders come with. its an extra chromosome not a death sentence. This educational content is not medical or diagnostic advice. Sense of injustice lingers after Seoul Halloween crush, Chess gets a risqu makeover. Who was Ukrainian minister Denys Monastyrsky? I could c the needle come in, while baby happily kicked about as usual. (THIS IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS that is not what that even means). Harmony is what I took! Is that what you're referring to? And if so , did the nuchal give a positive for Down syndrome or any other need whilst the Nipts said it was negative ?If so which one did you go by ?This is my dilemma. I was also given a relatively low risk based on my scans but given my age (over 35) the NIPT was recommended.
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