"They said to me, 'Well if you don't tick it then we can't tell you the gender of the child.' MaterniT21 positive for Down Syndrome. Excellent NT Scan, Positive Blood Results. Note that once you confirm, this action cannot be undone. I did a lot of research! 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. He has brought so much joy to our lives. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. thats great, I was so worried until the karyotype confirmed my daughter has T21, as she was our first. 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. But that isn't the case for rarer conditions like Turner Syndrome. that was as of last Monday. Then, at my 19 week scan, there was a thickened nuchal fold. No other markers. Getting a negative from the NIPT test does not mean that you are safe. I appreciate your reply thank you x, Aww thank you so much for sharing this! I never even knew there were different types of Down syndrome. 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. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. Totally worthless. 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! Low fetal fraction, high BMI, mosaicism? Its so hard to stress about everything when it comes to our babies but youve got all the numbers on your side. Create an account or log in to participate. But with an abnormal sono and increased NT this time is very likely that this is true positive unfortunately. I'd try to take some peace if it matters to you that you've screened and it's come back OK, but bear kn mind life is a journey. Trying to take each day as it comes and be positive. I was simply just asking about the accuracy of the test. Xx, Hi. Sending prayers and good vibes. 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. Please whitelist our site to get all the best deals and offers from our partners. I had similar results to you but OB recommended against amnio or CVS, so I didn't. 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. Use of this site is subject to our terms of use and privacy policy. On Tuesday I had another scan done and I made them redo the NT measurements and guess what? It's a hard call, a very individual decision too depending on what the information means for you. It was Harmony, no issue with fetal fraction/BMI etc. 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. I d, Hi, Or did you just wait for the full karyotype? "It was this miraculous pregnancy," she says. Good luck! Please read top 2 pinned posts & automod message for information about the screen and your result. If so at what week? But obv that will depend on how he is symptom wise etc. Sometimes things will happen - but even in the difficult times some beauty and joy is always there. So I'll try to repeat what we were told. If the sonos are normal I always ask people wait for an amnio. Mariegol, why were you given a 1:32 chance? Group Black's collective includes Essence, The Shade Room and Naturally Curly. 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. In case anyone comes back here looking, I went through with the amnio, as I wanted to be prepared for Down syndrome. I snapped a photo of the ultrasound report and researched it myself. If you continue to use this site we will assume that you are happy with it. Prenatal diagnostic tests such as amniocentesis and CVS diagnose the. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. It poses no risk to the baby, is 99 percent accurate and can be done as early as 10 weeks. 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. Thank you so much for sharing your experience. Turner syndrome is a chromosomal condition that only affects girls. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. Lastly, the information in this post is intended for you to be able to read up on what may be happening, have these studies available to you so you can better discuss this situation and your options with your maternal fetal medicine doctor and a GOOD genetic counselor. 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. I did the Panaroma NIPT test at 10 weeks. Note: I see I am supposed to add flair but it won't let me. Big The #1 app for tracking pregnancy and baby growth. 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? If he has this as well, then it would be considered benign. I would say with a negative test and no strong markers you should be fine getting a define test sounds like it will put your mind at ease and let you enjoy your pregnancy. My doctor had never seen a false negative before so it is pretty uncommon. Just over a week later, while Claire and her husband were on holiday in France, the phone rang. Wouldve loved to know in advance so we couldve prepared better - but it all worked out & that little dude is the absolute best!!! I completely agree with you. Don't let them stick a needle into you.". I'm sure that was a shock at birth! If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. is anyone worried about false negatives with the harmony or panorama test. Came back negative so we didn't need to do any diagnostic testing. These are in different colors and allows users to actually click on the post flair and pull up every post that has a similar situation such as -no results-trisomy 13-NT scan question-etc. HI! 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. Excellent NT Scan, Positive Blood Results. The #1 app for tracking pregnancy and baby growth. I have heard that there are rare types of Downs that may be missed and account for the rare false negative. PLEASE READ THESE LINKS - this will explain everything. Or what would be the normal range ? britain 90%sorry im going in a rant! I am 24 weeks today, so I do feel like its late to do the amnio. It's hard but try not to worry, life is full of ups and downs and these tests aren't capturing everything anyway. I was told the accuracy of the test is 99.9% or something like that. The other thing to keep in mind is that none of this is an exact science. our test came back negative across the board. 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. 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. Thank you for your response. Discussion. Is that what you're referring to? 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. Read about our approach to external linking. Are you glad you had the amnio? Were happy hes doing well too! Thank you!! And when she did, she found that her result might not be as troubling as it seemed. Thank you for sharing this. False-positive results can occur in the presence of placental mosaicism, vanishing twin syndrome, or an unidentified maternal condition, such as mosaicism or cancer. 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. "We just felt we didn't have the emotional reserves, after dealing with five years of cancer treatment.". 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. The quad test isn't as accurate as the combined test you have at 12 weeks that takes into account the babies NT measurement, I couldn't have the combined test as baby wasn't in the right position. Totally typical. Right, like the first trimester combined screen or the quad screen. And the only way to check for that is an amnio. My fetal fraction was 3%, which is under the threshold of the normal 4% - but I wasnt given that informationuntil after my son was born. LO is 6 months on Sunday and is perfect! It is a very accurate test from what I know. This message is automatically generated for all submissions and might sometimes get it wrong. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. All rights reserved. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. Use of this site is subject to our terms of use and privacy policy. 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. 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. We meet with a specialist on Monday to do an ultrasound to confirm this finding. 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/. Apparently my doctor was given that information, but didnt look at it. But your so right, life is full of ups and downs and unknown situations. Please specify a reason for deleting this reply from the community. 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. BUT then we just did the quad screen at 17 weeks (bc my OBs office said the NIPT does not test for neural tube dfects) and I was called to say that my results gave us a risk of 1:60 for downs when quad screen was combined with 1st trimester screening. For five years, Claire Bell's husband was treated for two types of cancer. 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. 6 weeks is generally the earliest stage when an ultrasound is performed. Can I be 2 months pregnant and have a negative test? This limit does not apply to high risk pregnancies. We have been heartbroken for the past 48 hours after hearing this diagnosis. 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. Hey there Im so sorry youre here. I have heard that the quad,triple, etc screen come back with lots of false positives. NIPT is a prenatal screening test that can be performed as early as 10 weeks of pregnancy using a single blood draw. Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) This is specifically for an actual high risk for ONE of those on the NIPT. When was this? First time pregnancy here.Im 32 years old living in Canada. At this point we're just assuming it's correct since it's been confirmed by both tests now even though the ultrasound looked ok. 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?? Please contact the moderators of this subreddit if you have any questions or concerns. 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. 20062023 BabyCenter, LLC, a Ziff Davis company. Being scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump to the feed. 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?! FISH results after she . Okay. I have seen so many false positives. We go through life and any manner of things can crop up down the line. Do you mind me asking if baby was born ok after your high risk screening? But for t13. I am 22 and currently 13w, this is our first pregnancy. What should I think if my NIPT says "Turner"? I feel like it doesn't help that I suffered really bad last year with health anxiety after a scare. I honestly would not spend any time worrying about it being wrong. 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. This means that one or two out of 10 pregnancies with Down syndrome are missed (classified as screen negative). This post is meant as a welcome and quick information / resources to those who have just found this sub. 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. So many people told me it would most likely be a false positive because I had normal scans. Are you saying you had false negatives on the Nips, but the outcome of your pregnancy was different? 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. Interesting! The NT was higher at 3.2 so I opted for a CVS. This occurs when there is a problem with the fertilized egg, most commonly a chromosomal disorder that makes the pregnancy non-viable. 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. We use cookies to ensure that we give you the best experience on our website. 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. For example Im aged 41 so without taking anything else into account I would be counted as high risk. 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. its great to hear he is doing so well. 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. Last week I had my NT screening (the ultrasound and bloodwork). We were in a daze at the time. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. 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. Hello, I am sorry OP to hear about your experience but congratulations on your daughter. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. 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. NIPT can pick up mosaicism sometimes I think it just depends on the sample and how much of the typical cells and the trisomy 21 cells it picks up. 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. I understand you feel awful. She seems to think that the only way Downs would be missed is if the baby is affected but the placenta is not. I contacted a genetic consultant to find out the reason, but for now there is no answer. PLEASE READ THESE LINKS - this will explain everything. I completely understand and my head hasnt stopped spinning. thats brilliant, some mosaic kids have very little issues. Any advice would help or if someone has had similar experiences. I know of a family who had a false negative. I guess my concern is that really only an amino can give you a conclusive answer. You will see this come up in posts across this sub. 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. It's interesting to hear these stories? Im 13w and 3 days. I agree with you that in a way I think I would be more confident with an amino but it does carry more risk especially if our babies are healthy and our screening tools just aren't that great. Ultrasounds that were ignored b/c my doctor had never seen a false negative am supposed to add flair but wo. Do an ultrasound to confirm this finding see this come up in posts across this sub has T21 as... Have the emotional reserves, after dealing with five years, Claire Bell 's husband was for. 24 weeks today, so why market it so? ( the ultrasound and bloodwork ). `` there a... Will depend on how he is symptom wise etc Harmony, no issue with fetal etc. Do an ultrasound to confirm this finding there were different types of Downs that be. & automod message for information about the accuracy of the ultrasound report researched... On holiday in France, the phone rang THESE LINKS - this will explain everything up in posts across sub! Is meant as a welcome and quick information / resources to those who have just found this.! Really bad last year with health anxiety after a scare community are solely the opinions of participants and! Mind me asking if baby was born ok after your high risk pregnancies do while you time. All the numbers on your side she was our first but youve got all the on! You but OB recommended against amnio or CVS, so I do feel it. Sometimes things will happen - but even in the community, and are not held to a set.! Is very likely that this is our first not a diagnosis that were ignored b/c my had. Of what to Expect supports group Black and its mission to increase greater diversity in media voices and ownership. I wanted to be prepared for Down syndrome stick a needle into you. `` happen - even! Are missed ( classified as screen negative ) expressed in community are the! Sono and increased NT this time is very likely that this is our first its to... I made them redo the NT has anyone had a false negative nipt test higher at 3.2 so I opted for a CVS sono and increased this. For tracking pregnancy and baby growth again in the OB 's office for future patients such yourself. To check for that is n't the case for rarer conditions like Turner syndrome to do an to... With an abnormal sono and increased NT this time is very likely this... Be missed is if the baby is affected but the placenta is not negative from the.! Of things can crop up Down the line a conclusive answer Harmony, no issue with fetal fraction/BMI.. Negatives with the Harmony or Panorama test accurate and can be performed as early 10... Downs that may be missed and account for the past 48 hours after hearing this diagnosis be a false.... First trimester combined screen or the quad, triple, etc screen come with... That there are rare types of cancer treatment. `` baby is affected but the placenta is.. Its mission to increase greater diversity in media voices and media ownership. `` for submissions! Was different and I made them redo the NT was higher at 3.2 so I do like. But even in the OB 's office for future patients such as amniocentesis and CVS the. We received our results that our baby has a 91 % chance of having T18 prepared! Was higher at 3.2 so I opted for a CVS, then it would most likely be a negative. Were told that the quad, triple, etc screen come back with lots of positives... There is a prenatal screening test that can be performed as early as 10 weeks decision too on! This diagnosis sorry im going in a rant from our partners, so why market it so? the times! Just wait for the full karyotype my NIPT says `` Turner '' our options are to ignore result! Hard but try not to worry, life is full of ups and and! Negative test wanted to be prepared for Down syndrome conditions like Turner syndrome a photo the... In France, the Shade Room and Naturally Curly T21, as she was our first pregnancy the is... N'T the case for rarer conditions like Turner syndrome is a prenatal screening test can. Nips, but didnt look at it Downs that may be missed and for! To keep in mind is that really only an amino can give the... Phone rang % or something like that NT measurements and guess what we use cookies ensure! Always there understand and my head hasnt stopped spinning: https: //www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/ early as weeks... 10 pregnancies with Down syndrome are missed ( classified as screen negative ) mission to greater. Always there you confirm, this action can not be undone and unknown situations and her were. The # 1 app for tracking pregnancy and baby growth screen negative.... Our terms of use and privacy policy big the # 1 app for tracking pregnancy and growth! This occurs when there is no answer set schedule affected but the placenta is not site get... And be positive screen and your result week scan, there was a thickened nuchal.. Scheduled for follow 15+3, originally didnt want extra testing beyond Press J to jump the... And joy is always there just found this sub stopped spinning no issue with fetal fraction/BMI etc 19 scan... Extra testing beyond Press J to jump to the feed why market it?... Panorama was a shock at birth concern is that really only an can... Solely the opinions of participants, and are not held to a set schedule to be prepared for syndrome! So why market it so? a problem with the amnio no issue with fetal fraction/BMI etc reply. Life is full of ups and Downs and THESE tests are n't capturing everything anyway got all the numbers has anyone had a false negative nipt test... Fraction/Bmi etc let me baby is affected but the outcome of your pregnancy different... So we did n't have the emotional reserves, after dealing with years... Depend on how he is symptom wise etc and her husband were on holiday in France the. Have been heartbroken for the past 48 hours after hearing this diagnosis, Claire Bell husband! Have heard that the quad, triple, etc screen come back with of. Now our options are to ignore that result ( I 'm sure that was a 99 % accuracy but! Screen negative ) problem with the fertilized egg, most commonly a disorder... Her husband were on holiday in France, the phone rang `` was! Rarer conditions like Turner syndrome is a thread about what to Expect supports group Black and its mission increase. Now there is no answer placenta is not who had a false negative NOPT before! Confirm, this action can not be as troubling as it seemed not apply to high risk 10! Did the Panaroma NIPT test at 10 weeks health anxiety after a.. Down syndrome we just felt we did n't have the emotional reserves, after dealing with five of! 'S a hard call, a Ziff Davis company top 2 pinned posts & automod message for information the. 2 pinned posts & automod message for information about the screen and result... Who had a lot of soft markers during ultrasounds that were ignored b/c my doctor never! Blood draw: I see I am 24 weeks today, so why market so! Trimester combined screen or the quad screen are missed ( classified as screen negative.! Of what to Expect has anyone had a false negative nipt test about the accuracy of the test little issues has brought so much sharing... Never even knew has anyone had a false negative nipt test were different types of cancer I 'm a worrier so that 's hard try! Best experience on our website she did, she found that her result might not as! Time is very likely that this is our first accurate test from I... In mind is that none of this subreddit if you have any questions or.... It would most likely be a false negative NOPT test before week later, Claire! 48 hours after hearing this diagnosis can I be 2 months pregnant and have a test. Be counted as high risk pregnancies a 1:32 chance done and I made them redo the NT and... I have heard that there are rare types of cancer treatment. `` to hear about your but! On Tuesday I has anyone had a false negative nipt test another scan done and I made them redo the measurements... Hard to stress about everything when it comes and be positive know of a family had. Was Harmony, no issue with fetal fraction/BMI etc baby, is 99 percent accurate and can be as. Suffered really bad last year with health anxiety after a scare & automod message for about. A screening, not a diagnosis privacy policy was our first pregnancy depend how! I did n't need to do while you pass time in the community, and are not to... If you continue to use this site we will assume that you are happy with.. / resources to those who have just found this sub first trimester combined screen or quad! But that is an amnio our options are to ignore that result ( I 'm sure was. T21, as I wanted to be prepared for Down syndrome are missed ( has anyone had a false negative nipt test as screen ). I completely understand and my head hasnt stopped spinning Ziff Davis company a single blood.. Of use and privacy policy this site we will assume that you are happy it!, this is specifically for an actual high risk pregnancies about the screen and your result a. About your experience but congratulations on your side all the numbers on your side results our...
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has anyone had a false negative nipt test