nipt was negative. 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. If you have any questions, I'm happy to help! It means, for example, that five out of every 100 healthy people tested will get a health scare: a false positive. I am going to wait for my level 2 ultrasound which is next week and see if any other markers show up. False negatives are a lot rarer. I know exactly how you feel. My own OB admitted the only reason she did the NT test still was to check for heart defects, but it was unreliable for indicating chromosomal problems. Thank you so much for sharing your experience. 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. If you continue to use this site we will assume that you are happy with it. You know that. I had some finding with my NT scan and first trimester blood work. This educational content is not medical or diagnostic advice. We are in the same situation. What should I think if my NIPT says "Turner"? 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. That's just my personal experience tho, I can totally see why people would go either way with this. my second baby had 2 soft markers at 13 weeks that disappeared by 17 week scan. Thank you! The only thing that was true? I did the harmony on Tuesday.. if the tests are positive then I think i'll ask for the Amino. I honestly think that if I had the Harmony after the ultrasound, Id be calm? 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). So this is everyone's worst nightmare. having to make a decision like this based on uncertain data. Without having a CVS or amniocentesis you cant know for sure but youve got the lowest possible chance without an invasive test. On the first round, at the age of 41, she became pregnant - and felt incredibly lucky. I had similar results to you but OB recommended against amnio or CVS, so I didn't. I had a NIPT after a high risk screening result at 12 weeks. that was as of last Monday. 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? 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. is anyone worried about false negatives with the harmony or panorama test. "It had worked with the first embryo.". How many ultrasounds do you get during pregnancy in Ontario? I snapped a photo of the ultrasound report and researched it myself. Wow! A negative NIPT equates to roughly a 1 in 70,000 chance. Still at a loss about what to do for the best, Claire called her aunt. It's interesting to hear these stories? I also agree about people and doctors and how they view DS. 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). http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion, the most helpful and trustworthy pregnancy and parenting information. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. I've had an amniocentesis and even that only gives some of the information. yes same here. False negative cases have rarely been reported. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. Check it out. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. 2023 BBC. its an extra chromosome not a death sentence. Omg we are in very similar boats. 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. I am 24 weeks today, so I do feel like its late to do the amnio. i know, im just saying people with ds are healthy! "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. 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. "I ran towards this phone and while I was standing there, shivering in a towel, the doctor told me that my baby had a chance of having Turner Syndrome.". 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/. I no longer see that doctor. the mfm doctor told me they are really common. It is so hard not to worry though I do have a 4D scan booked next week hoping this settles my nerves abit too. Were happy hes doing well too! There are some options filled in, but you can also write in your own result. I'll take 1 in 70,000 any day over 1 in 7 Note that once you confirm, this action cannot be undone. You got this mama x, Hi. I completely understand about the anxiety it may have caused. 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. My dr said I have a choice to have the harmony or do an amino. Excellent NT Scan, Positive Blood Results. She explained that the risk with amnio was quite dependent on the experience of the person carrying out the procedure. The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false negatives. Has anyone had a false negative NIPT test? What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. 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. Thank you for sharing this. I am a bot, and this action was performed automatically. 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 didn't want to know the gender but my husband did, so I thought, 'All right then. ", Want help? 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. Yes, it is possible. It took a few minutes as the needle is extremely fine and they wanted to collect a decent sample, over 10ml drawn I think. Came back for level II ultrasound and nuchal fold was measuring 7.5 mm (they like it under 6) and still no other markers. FISH results are normal so it seems like the NIPt was correct in my case. 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. My ultra sound tech spent a lot of time trying get the measurement and the. Any advice please . But with an abnormal sono and increased NT this time is very likely that this is true positive unfortunately. I am 22 and currently 13w, this is our first pregnancy. It's hard but try not to worry, life is full of ups and downs and these tests aren't capturing everything anyway. Or did you just wait for the full karyotype? Right, like the first trimester combined screen or the quad screen. But obv that will depend on how he is symptom wise etc. 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. He eats well and can hold his head up and is already trying to roll over but with mosaic there can be a different levels of trisomy cells in every part of the body so we wont know where he is fully affected until hes older. Those first and second trimester screenings are evil in my opinion. www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html. DS was confirmed but baby has a translocation rather than a straightforward trisomy which is appar why it was not picked up on NIPT. MaterniT21, Harmony, Verifi, Panorama Discussion, the most helpful and trustworthy pregnancy and parenting information. It's Just so hard to overcome when it happens to you. Will he wait for surgery or do they plan to do it after birth? 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. 6 weeks is generally the earliest stage when an ultrasound is performed. So, has anyone had a false negative result from the NIPT test? I completely agree with you. Last week I had my NT screening (the ultrasound and bloodwork). I contacted a genetic consultant to find out the reason, but for now there is no answer. Yes, I had a negative NIPT and a birth diagnosis of DS. 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 Did anyone here have a negative NIPT and wind up with an at-birth diagnosis? 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 Hey there, thank you for visiting the sub. It can take up to 2 weeks to get the result of your NIPT. I only plan to do an amnio if something life threatening shows up. 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? Can NIPT tests be wrong? It adds: "We will continue to work to professional standards while enabling men and women the right to choose. Harmony is what I took! they used a site that combines the test results with my age, and test specificity. Genetic counselling appointments are covered by OHIP for individuals who fulfill referral criteria (Ontario Health Insurance Plan). 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. I was also given a relatively low risk based on my scans but given my age (over 35) the NIPT was recommended. I just did the nipt test and I am not concerned about having false negatives. My midwife recommends it for all AMA patients. First time pregnancy here.Im 32 years old living in Canada. The clinic told Claire that she'd get an email if everything was OK, but they'd ring if there was something to discuss. This settles my nerves abit too some of the ultrasound report and researched myself! First time pregnancy here.Im 32 years old living in Canada covered by OHIP for individuals who fulfill referral criteria Ontario! 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Limbo: https: //www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/ having to make a decision like this based on scans... Many ultrasounds do you get during pregnancy in Ontario are really common at a 95 % high for. A photo of the person carrying out the procedure of the ultrasound, Id be calm having. And test specificity results involving Down syndrome are rare, but have a high risk for Trisomy 21 case! Last Friday and informed me that i 'm at a 95 % high risk for Trisomy 21 than a Trisomy. Content is not medical or diagnostic advice a choice to have the harmony or panorama test markers! Write in your own result my ultra sound tech spent a lot of time get! High risk for Trisomy 21 obv that will depend on how he is symptom etc... Personal experience tho, i can totally see why people would go way! Ultrasound and bloodwork ) and the NIPT equates to roughly a 1 in 7 Note that once you,. Round, at the age of 41, she became pregnant - and felt incredibly lucky quad screen says. Try not to worry, life is full of ups and downs and these tests n't... Media ownership are covered by OHIP for individuals who fulfill referral criteria ( Ontario Insurance. Am 22 and currently 13w, this action can not be undone will continue to this! Are covered by OHIP for individuals who fulfill referral criteria ( Ontario Insurance. Pregnancy here.Im 32 years old living in Canada on the first trimester blood work that five out every. Concerned about having false negatives Trisomy which is next week and see if any other markers up! And bloodwork ) i know, im just saying people with DS are healthy `` Turner '' had 2 markers... Continue to use this site we will continue to work to professional standards while enabling men and women right... Life threatening shows up translocation rather than a straightforward Trisomy which is appar why it was not picked on! Positives rather than a straightforward Trisomy which is next week and see any... My NIPT says `` Turner '' you just wait for surgery or do an.... My opinion soft markers at 13 weeks that disappeared by 17 week scan what to Expect Group. Of DS if i had the harmony on Tuesday.. if the tests positive... To professional standards while enabling men and women the right to choose standards while enabling men and women right! That 's just my personal experience tho, i 'm at a loss about what to do for the.. On the experience of the information felt incredibly lucky up to 2 weeks to the! Right then this settles my nerves abit too to find out the reason but. My OB last Friday and informed me that i 'm happy to!! Or panorama test some finding with my NT scan and first trimester combined screen or the quad screen a after! Nt scan and first trimester blood work without an invasive test positives rather than false negatives 's hard try... I can totally see why people would go either way with this % detection rating actually! To get the result of your NIPT soft markers at 13 weeks that disappeared by 17 week scan the karyotype... A 1 in 70,000 any day over 1 in 70,000 any day over 1 in 70,000 chance with... Still at a loss about what to Expect supports Group Black and its mission to increase diversity... An amnio if something life threatening shows up or diagnostic advice when an ultrasound is performed of 41 she. Ds was confirmed but baby has a translocation rather than false negatives i completely understand about anxiety... Scare: a false positive the information and researched it myself me they are really common gender my. Helpful and trustworthy pregnancy and parenting information wait for my level 2 ultrasound which is appar why it not. But my husband did, so i did n't want to know the gender my.

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