During this difficult time you may be looking information about what the NIPT results you received mean. I've had an amniocentesis and even that only gives some of the information. Create an account to follow your favorite communities and start taking part in conversations. "I just remember thinking this is science, this is fact I couldn't stop crying, I couldn't walk more than 200m at a time, I just felt hopeless.". The other thing to keep in mind is that none of this is an exact science. The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false . It also talked about the test's reliability. 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 the quad test test takes into account age (27 I was 26 at the time) ethnicity, BMI ( I am over weight) and diabetes, the blood taken measures Alpha-fetoprotein (AFP), a protein made by the developing baby 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. If we there are any markers during the ultrasound, we'll opt for the amnio (gulp). had the result before 30 weeks, so have had time to process, which is good I think. If you have any questions, I'm happy to help! Any advice please . You know that. I hate that I'm latching onto this one little thing as my ultrasound was nearly perfect and I had an NIPT test at 10 weeks which came back as low risk. Thank you for your response. 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. She shows no symptoms of Turner Syndrome. Does he have low muscle tone, its great to have a physio keep a regular check on development. And the only way to check for that is an amnio. dizlaly-here's the board about NIPT testing: http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion. and our In this case I would have a CVS as soon as possible to confirm so you can TFMR. 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. That OB needs further education about NIPT positives and how to present such information as well as knowledge of the Positive Predictive Value of NIPT based on age. But this was not the case and I dont like the false hope is helpful. We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed di We are very similar. How many ultrasounds do you get during pregnancy in Ontario? There was actually a checkbox on the blood draw form that should have been checked that I received NIPT but that was overlooked by the nurse at my OBs office. My midwife recommends it for all AMA patients. But if the CVS comes back mosaics, you may need to follow up with an amnio. The needle was withdrawn and there was still a strange feeling on the bump which faded gradually over the next 12 or 24 hours. Hey there, thank you for visiting the sub. 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 had a NIPT after a high risk screening result at 12 weeks. 20062023 BabyCenter, LLC, a Ziff Davis company. MaterniT21, Harmony, Verifi, Panorama Discussion, the most helpful and trustworthy pregnancy and parenting information. i hope you have a healthy rest of your pregnancy! My 20 week scan was fine no abnormalities detected. Discussion. The answer was, they didn't do this. , Honestly the thoughts of the amnio wer worse than the actual experience. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. Good luck and stay in touch with your results! Now Im overcome with anxiety again about my baby having DS. Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. 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. yes same here. I have heard of this happening with mosaicism, but it seems like sometimes NIPT can pick up on mosaicism? My doctor had never seen a false negative before so it is pretty uncommon. (THIS IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS that is not what that even means). That's just my personal experience tho, I can totally see why people would go either way with this. These stories make me wonder. yes there are certain health problems that they are more susceptible to than "typical"people but thats not a guarantee or anything. First time pregnancy here.Im 32 years old living in Canada. Check it out. 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. I'm waiting for the results, but so confused. What should I think if my NIPT says "Turner"? , Thank you for your reply! Apparently my doctor was given that information, but didnt look at it. 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. The options include CVS (placental biopsy) now or amniocentesis (taking fluid from around the baby) at 16 weeks. Reddit and its partners use cookies and similar technologies to provide you with a better experience. I can't wait to meet our girl! Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the feed. I got the FISH results from my CVS back already, and it is also negative. 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. fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). He actually didn't have DS/Edwards or Pataus but has got other conditions which included global development delay and autism. 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. 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. I contacted a genetic consultant to find out the reason, but for now there is no answer. For example Im aged 41 so without taking anything else into account I would be counted as high risk. It was so helpful. It's interesting to hear these stories? I know, when I first found out I went to google and it was terrifying. We were in a daze at the time. Trying to take each day as it comes and be positive. An article in the medical journal Ultrasound in Obstetrics and Gynaecology argues that when NIPT is used to screen for these conditions, including Turner syndrome (when a girl has only one copy of the X chromosome) or Klinefelter syndrome (when a boy has two copies of the X chromosome and one Y chromosome) it has "a high failure rate" - a low detection rate and a high false positive rate. You will see this come up in posts across this sub. 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 hope the baby gains weight fast for the heart surgery. 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. 2005-2023Everyday Health, Inc., a Ziff Davis company. 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. The second she was born, I knew and moved on. These tests are noninvasive and analyze a sample of your blood for DNA from your fetus.. It adds: "We will continue to work to professional standards while enabling men and women the right to choose. nipt was negative. She seems to think that the only way Downs would be missed is if the baby is affected but the placenta is not. During this difficult time you may be looking information about what the NIPT results you received mean. When the amnio results came through they rechecked the original NIPT to ensure they had not made a mistake, but confirmed it was not detectable on those results. There are a number of potential symptoms, including being short and having fertility problems. 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. BabyCenter may earn a commission from shopping links. In your case, this is less likely since there were issues seen on ultrasound. This means that one or two out of 10 pregnancies with Down syndrome are missed (classified as screen negative). Breastfeeding: the trick to a comfy latch. My big question: Does anyone have 1st hand experience with a false negative from an NIPT?? This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. I know I already love this child and I believe we get the children we get for a reason. But obv that will depend on how he is symptom wise etc. All rights reserved. Use of this site is subject to our terms of use and privacy policy. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. Yes, it is possible. 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. I understand its a very accurate test, but not 100%. Processed at TDL London. Fascinating! HI! 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. It's extremely rare! A Group Leader is a What to Expect community member who has been selected by our staff to help maintain a positive, supportive tone within a group. I started saving them if you are interested I can send them to you. I just did the nipt test and I am not concerned about having false negatives. Im sure your little girl will be delighted to be a big sister! I will tag your post with POST FLAIR on which you can click and find similar posts about your result. Not to be judgemental but the tech that was measuring me seemed like he didn't really know what he was doing. I have the same fears you do. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. Firstly thank you so much for your reply, I appreciate it so much! 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. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. I'm thinking of asking for a NT remeasure. I took Harmony early in my pregnancy because Im 36. What are the knowledge areas and process group in project management as per PMI? 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. (In a statement, the clinic Claire went to says its patients are "explicitly counselled on the use of the test and possible outcomes" and that they are given a full explanation of the conditions NIPT may detect - as well as an explanation of the test's limitations.). 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. Came back with a 15-16% fetal fraction (cant remember exactly) and a 1/10,000 chance of all 3 trisomies tested. The #1 app for tracking pregnancy and baby growth. I completely agree with you. "It was this miraculous pregnancy," she says. 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. Home; houses in king george, va for rent; has anyone had a false negative nipt test; has anyone had a false negative nipt test. Hey there Im so sorry youre here. You should do invasive testing before making any decisions. Privacy Policy. The stats are a bit frightening if you go dr google but so many kids are healthy and happy. I'm in an urban area, if that makes any difference. That makes sense. Best of luck! It's a hard call, a very individual decision too depending on what the information means for you. This educational content is not medical or diagnostic advice. 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. I had similar results to you but OB recommended against amnio or CVS, so I didn't. 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. In June 2018 Claire's daughter, Fintry, was born. False-positive results can occur in the presence of placental mosaicism, vanishing twin syndrome, or an unidentified maternal condition, such as mosaicism or cancer. Human chorionic gonadotropin (HCG), a hormone made by the placenta 1997-2023 BabyCenter, LLC, a Ziff Davis company. ", Want help? "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. 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. 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. Note: I see I am supposed to add flair but it won't let me. Delighted for you that he is doing so well. Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. 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?! We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. Harmony is what I took! We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. 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. FISH results after she . I know of two false negatives for t21 via nipt. My doctor was confident and reassuring regarding the procedure which was aassive factor. Thank you!! In case anyone comes back here looking, I went through with the amnio, as I wanted to be prepared for Down syndrome. Yep 2020, blood sample collected approx 13 weeks ago. All rights reserved. I feel maybe he should have just retested at a different time. I feel like it's creeping up on me again. THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. Read about our approach to external linking. When was this? 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. 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. Did you end up doing an amino? 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. i knew nothing about ds so it was scary, but i learned real fast that it is nothing to worry about! Is it possible to be pregnant and get a negative pregnancy test result? Were happy hes doing well too! And when she did, she found that her result might not be as troubling as it seemed. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. 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. 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). I would try not to worry about it (I know thats easier said than done). 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. soft matkers are common. We had several soft markers for one of my twin girls, so I looked high and low for anything that would assure me that it didnt mean much. The #1 app for tracking pregnancy and baby growth. Thank you for responding to my post. Has anyone had a false negative NIPT test? Totally worthless. Lalybro - the nt was great. I also agree about people and doctors and how they view DS. Genetic testing is also covered by OHIP, but is only available under very specific defined conditions. 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. 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. They are testing my husband now. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. Not long afterwards, writes the BBC's Charlotte Hayward, she received what appeared to be terrible news. It can take up to 2 weeks to get the result of your NIPT. The Society of Obstetricians and Gynaecologists of Canada recommends that all women have two ultrasounds: one dating ultrasound at 11-14 weeks and one anatomic ultrasound between 18-20 weeks.