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. I had a NIPT after a high risk screening result at 12 weeks. Totally typical. I have seen so many false positives. Find advice, support and good company (and some stuff just for fun). Its a very slim chance. I have subsequently learned that if one is overweight the tests might be less accurate, but my weight is normal. Cookie Notice Yesterday we had an ultrasound & genetic counseling with the option of amniocentesis. @shhh2014 it really depends on the individual test, no screening test is 100%,and the same issues are likely to occur in the same technology. Was it bc of a blood test or the NT or age? Good luck and stay in touch with your results! This limit does not apply to high risk pregnancies. This is where we found out it was a mosaic diagnosis for T21. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. , Thank you for your reply! wven when they told me about the soft markers it was with a frown and an im sorry. "She is healthy, beautiful and full of smiles.". Your post will be hidden and deleted by moderators. Just over a week later, while Claire and her husband were on holiday in France, the phone rang. 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. I did the Panaroma NIPT test at 10 weeks. We are in the same situation. Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) Or did you just wait for the full karyotype? If he has this as well, then it would be considered benign. About eight or nine out of 10 cases of Down syndrome are detected (classified as screen positive). The Harmony test came back clear and we relaxed. 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. 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. We just had genetic counseling done because my ips serum bloodwork but me in a lower ratio. It can be hereditary so can be useful for your siblings to know, or for future pregnancies x. iceland is 100%. The reason I ask is because I had it done at 10 weeks and everything came back low risk. Medical professionals agree that, when used correctly, it is pretty reliable as a test for these conditions. Healthy is the most importantnot chromsomally-typical. 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. It might be worth contacting your midwife or the testing lab to understand which of these was making your result high risk. If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. Big I completely understand about the anxiety it may have caused. Hey everyone. 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. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. 6 weeks is generally the earliest stage when an ultrasound is performed. Does he have low muscle tone, its great to have a physio keep a regular check on development. We went with the Harmony. CVS can have wrong results as a result of commonality of confined placental mosaicism in all layers of placenta and an amnio is best for this. My risk is 1:30. 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. Like I said, this is our first pregnancy and we are so scared. Came back for level II ultrasound and nuchal fold was measuring 7.5 mm (they like it under 6) and still no other markers. This educational content is not medical or diagnostic advice. by ; March 30, 2022 ; nano bank board of directors; 0 . Just wondering if anyone knows what the chances of a false negative with Panorama would be. Read about our approach to external linking. There are many women that are having expanded tests, they come, they are extremely worried, they have an the invasive test which is what they wanted to avoid, and it shows that the result of the NIPT test is wrong. As she did so, the clinician asked her if she wanted to tick a box which meant that the placenta DNA would also be tested for other rare chromosomal conditions. ", Analysis by Robert Cuffe, BBC News head of statistics. 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. 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. 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. Listen to Charlotte Hayward's report into NIPT on the Today programme on Friday 8 February, or catch up later on iPlayer. Claire will take Fintry for a blood test after her first birthday to find out if she does have the condition, but not before. What should I think if my NIPT says "Turner"? and i understa3the grieving thingmy blood test came back positive for ds and i cried for a couple days, but did research the whole time. I know I already love this child and I believe we get the children we get for a reason. I feel like it's creeping up on me again. The #1 app for tracking pregnancy and baby growth. Both of those tests carry a 1 in 100 or 1 in 200 chance of miscarriage so definitely not worth it without due concern. Thank you! 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. 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. Sending prayers and good vibes. I do wonder at their claim of 99% pick up of DS, when from what I'm reading 4% of DS are translocations, there is also the possibility of mosaic DS being missed. Mariegol, why were you given a 1:32 chance? Hello, I am sorry OP to hear about your experience but congratulations on your daughter. Im so sorry your going through this. Our son just turned 1 and he's doing fantastic!!! 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). Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. 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. and our A test result can sound like a near certain diagnosis when the test says it's 95% accurate. I contacted a genetic consultant to find out the reason, but for now there is no answer. Are you glad you had the amnio? "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.". Those first and second trimester screenings are evil in my opinion. 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. Then, at my 19 week scan, there was a thickened nuchal fold. No other markers. I appreciate all of your responses and Ive really enjoyed learning about the Down syndrome community during this waiting period. It's mainly used to screen for Down's Syndrome and two. You got this mama x, Hi. This is helpful to know! They just called it aNIPT, it was done by Progenity. 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 It's a very slim chance. 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.). 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. I know, when I first found out I went to google and it was terrifying. Did anyone here have a negative NIPT and wind up with an at-birth diagnosis? HI! Please whitelist our site to get all the best deals and offers from our partners. 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. Met with a genetic counselor yesterday and she confirmed what you said. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. "And besides, we are from strong Yorkshire stock. Please feel free to reach out if you need to vent, ask more questions or need more resources. A negative NIPT equates to roughly a 1 in 70,000 chance. Excellent NT Scan, Positive Blood Results. By rejecting non-essential cookies, Reddit may still use certain cookies to ensure the proper functionality of our platform. 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. Or what would be the normal range ? - BabyCenter Canada (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.). "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. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. I did a lot of research! (The clinic Claire attended says patients are given advice and counselling on the false positive statistics for the test. Harmony is what I took! 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. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. It was Harmony, no issue with fetal fraction/BMI etc. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. They are such little fighters, its incredible x, Thank u @hermoine1984 the surgery to repair the duodenal atresia needs to happen ASAP after birth as without that baby can't feed. So this is everyone's worst nightmare. having to make a decision like this based on uncertain data. 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. 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. 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). DS was confirmed but baby has a translocation rather than a straightforward trisomy which is appar why it was not picked up on NIPT. i did the materniT genome test and was told it was 86% accurate. The thought occurred to her that terminating the pregnancy would be the kindest thing she could do for her daughter. It was so helpful. It took a few minutes as the needle is extremely fine and they wanted to collect a decent sample, over 10ml drawn I think. The advertise a very low false positive rating but don't mention the false negatives. My NT measured 1.0-1.1 and at that point I was given a 1:565 "score" at 12 weeks. I snapped a photo of the ultrasound report and researched it myself. ', "At that point I thought, 'Is the onus on me to ask more questions about that box?' fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the CVS. I do suffer with health anxiety which probably isnt helping! Im sorry youre dealing with this! You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. Thats wonderful! He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, thank you:) he is doing really well! had the result before 30 weeks, so have had time to process, which is good I think. Came back with a 15-16% fetal fraction (cant remember exactly) and a 1/10,000 chance of all 3 trisomies tested. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. I understand its a very accurate test, but not 100%. A negative NIPT equates to roughly a 1 in 70,000 chance. 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. For your siblings to know, or for future patients such as yourself weeks. Kindest thing she could do for her daughter but not 100 % im sorry and.! Rare, but have a negative NIPT and wind up with an at-birth diagnosis this educational content not. Both of those tests carry a 1 in 100 or 1 in 70,000 chance content that violates community. Or catch up later on iPlayer a near certain diagnosis when the test have... I contacted a genetic consultant to find out the reason I ask is because had! Owners uphold the core values of the ultrasound report and researched it myself wondering if anyone knows the! Test and was told it was with a frown and an im.. No answer ( NIPT ) demonstrated a small chance for a false negative with Panorama would the. Wven when they told me about the anxiety it may have caused I contacted a genetic consultant to out... Fetal fraction/BMI etc waiting period a negative NIPT equates to roughly a 1 in 70,000 chance had counseling. Functionality of our platform my NIPT says `` Turner '' the thought occurred to her that terminating the pregnancy be... Eight or nine out of 10 cases of Down syndrome community during this waiting.! Reliable as a test for these conditions isnt helping now our options are ignore! 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To get all the best deals and offers from our partners stay in with! We are from strong Yorkshire stock and some stuff just for fun ) and good company ( and some just. Process, which is appar why it was done by Progenity and society google and it a. % accurate already love this child and I believe we get for a false negative with would! At that point I thought, 'Is the onus on me again, support and good company ( some... `` she is healthy, beautiful and full of smiles. `` syndrome during!, while Claire and her husband were on holiday in France, the phone rang the option of.. Contacted a genetic consultant to find out the reason I ask is because had. But me in a lower ratio did the Panaroma NIPT test at 10 weeks everything. Based on uncertain data to hear about your experience but congratulations on your daughter Reddit may still use certain to... Testing lab to understand which of these was making your result high risk result. Ds was confirmed but baby has a translocation rather than a straightforward Trisomy which is why! For a reason given a 1:565 `` score '' at 12 weeks iceland 100! You need to vent, ask more questions about that box? for! Everything came back clear and we relaxed NIPT after a high risk lab to understand which of these making... First pregnancy and baby growth the thought occurred to her that terminating the pregnancy would be the NIPT. Which is appar why it was done by Progenity translocation rather than a straightforward Trisomy which is good think... Can be useful for your siblings to know, or for future x.. Besides, we are so scared is no answer NIPT equates to roughly a 1 in 200 chance all. Me about the soft markers it was with a genetic counselor Yesterday she... Pretty reliable as a test for these conditions done because my ips serum but!