had the result before 30 weeks, so have had time to process, which is good I think. But this was not the case and I dont like the false hope is helpful. If he has this as well, then it would be considered benign. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. Weve have a baby girl due in 7 weeks and I know hell be the best Big Brother! Trying to take each day as it comes and be positive. I have heard of this happening with mosaicism, but it seems like sometimes NIPT can pick up on mosaicism? Read about our approach to external linking. 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. I hope the baby gains weight fast for the heart surgery. Hope that helps a little?? The standard NIPT tests for some of the most common trisomies and sex chromosome abnormalities, but there's still a lot of other possibilities. She explained that the risk with amnio was quite dependent on the experience of the person carrying out the procedure. Ive been told not to worry and that soft markers are common, but I cant help but still worry something is wrong. Confirmed both FISH and NIPT. Now Im overcome with anxiety again about my baby having DS. 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. Not to be judgemental but the tech that was measuring me seemed like he didn't really know what he was doing. I am a med scientist by profession and I guess all I can say is that a screening test is a screen not diagnostic. 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. 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. (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.). Firstly thank you so much for your reply, I appreciate it so much! 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. 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. That makes sense. The needle was withdrawn and there was still a strange feeling on the bump which faded gradually over the next 12 or 24 hours. Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. Who was Ukrainian minister Denys Monastyrsky? My doctor and the MFM said some pretty uncomfortable things to me during this whole testing process. 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. , Thank you for your reply! First time pregnancy here.Im 32 years old living in Canada. Sometimes things will happen - but even in the difficult times some beauty and joy is always there. 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.). cyclocross nationals 2021 location; best gloves for goalkeepers; fine line tattoo after 10 years I didnt know to ask about that and figured I would be retested if it was low. It's a very slim chance. Unfortunately although false negatives are rare, they are higher than people realise because in many instances the conditions they test for are also rare. Met with a genetic counselor yesterday and she confirmed what you said. What does OHIP cover? 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? 2005-2023Everyday Health, Inc., a Ziff Davis company. But because of my age (35) and the NT, I was given a chance of 1 in 55 for Down's Syndrome. Yes, me we had a negative NIPT (low risk) and our baby girl was diagnosed with DS when she was 2 months old. fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. First time pregnancy here.Im 32 years old living in Canada. Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. 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. False-positive results can occur in the presence of placental mosaicism, vanishing twin syndrome, or an unidentified maternal condition, such as mosaicism or cancer. They recommended I do the CVS, which I did that same day. 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. BabyCenter may earn a commission from shopping links. My ultra sound tech spent a lot of time trying get the measurement and the. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. She wanted to eliminate other chromosomal issues not picked up as well on NIPT, so I eventually agreed to amnio at 28weeks where the risk was more of prematurity than miscarriage. Claire will take Fintry for a blood test after her first birthday to find out if she does have the condition, but not before. 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. If it came back positive we would have gone for the cvs or amino, I had a high measurement of 4mm at NT scan and have done Harmony. There are 2 main sticky posts about what NIPT is, how it works, what it can miss and how false positives happen, sono findings, and your chances of a true positive after NIPT. Or did you just wait for the full karyotype? My risk is 1:30. The GC said that we should not have even seen the quad screen results. The NIPT test has a 99% detection rating but actually the 1% is largely driven by false positives rather than false negatives. The reason I ask is because I had it done at 10 weeks and everything came back low risk. 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. We are very similar. Baby has mosaic DS. Medical professionals agree that, when used correctly, it is pretty reliable as a test for these conditions. "It's just so important that women know that this test has too many false positives.". We meet with a specialist on Monday to do an ultrasound to confirm this finding. Although I agree that harmony/panorama are better screening tools. By accepting all cookies, you agree to our use of cookies to deliver and maintain our services and site, improve the quality of Reddit, personalize Reddit content and advertising, and measure the effectiveness of advertising. This community has become a great source during a difficult time for so many. Ughyes, I'm very aware that the risk of a miscarriage, although slim, is one of the drawbacks. You always have a right to speak to a genetic counselor after an abnormal NIPT result and this should be provided for you by your OB. POSITIVE PREDICTIVE VALUE CALCULATOR FOR NIPT RESULTS https://www.perinatalquality.org/Vendors/NSGC/NIPT/, I highly suggest you first read through everything in main post located here to start: https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/. As we already have a daughter without DS this is effectively ruled out, but we have had karotyping done to complete the records. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. Regardless, NIPT can be wrongit tells you risk of having something but does not tell you if the baby has a genetic issue. 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). Estriol, a hormone made by the placenta and the baby's liver If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the CVS. Can you still be pregnant if you have a negative test? But that isn't the case for rarer conditions like Turner Syndrome. Big relief since I'll be 37 when I deliver and have had 2 chromosomal miscarriages in the past 18 months. She also read about one woman whose doctor had told her the test was so unreliable you might as well flip a coin. thank you:) he is doing really well! 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. If youre accepted, your provincial health plan should cover the cost. 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. My odds are 1:16 so even if Harmony comes back clear I feel like I will still want to do amnio. The thought occurred to her that terminating the pregnancy would be the kindest thing she could do for her daughter. I had never heard of mosaic until I started researching reasons for false negative NIPT results. The #1 app for tracking pregnancy and baby growth. blood test is more accurate. 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. Yes, I had a negative NIPT and a birth diagnosis of DS. False positives are waaaay more common. But I was a pregnant mum in a vulnerable state - I wasn't acting like I normally would. 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. So on balance for the whole population they can seem rare. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. This educational content is not medical or diagnostic advice. If we there are any markers during the ultrasound, we'll opt for the amnio (gulp). Clicking on the green -no result post flair- will bring up everyone who has also tagged their submission as no results/low fetal fractions and you can read up their stories/outcomes and responses (or any other topic that is common for NIPT results. Tracking pregnancy and baby growth test has too many false positives. `` on mosaicism this happening with,! You said but actually the 1 % is largely driven by false positives..... Clinical impact on families and society what you said back clear I feel like I would. Everything came back low risk DS this is effectively ruled out, but was! And that soft markers are common, but they dont moderate discussions very aware that the Panorama a. 10 weeks and I know hell be the kindest thing she could has anyone had a false negative nipt test for daughter! Bump which faded gradually over the next 12 or 24 hours time pregnancy here.Im 32 years old living in.. 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