its an extra chromosome not a death sentence. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. I'm unclear. FYI, I'm also a 40 year old mom and OB still thought the invasive tests were unnecessary. 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. Totally worthless. 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. http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion, the most helpful and trustworthy pregnancy and parenting information. thats brilliant, some mosaic kids have very little issues. Those first and second trimester screenings are evil in my opinion. How do I reset my brother hl 2130 drum unit? My NT was slightly less (3.2) but the tech kept saying he couldn't get a good angle. I had never even heard of mosaicism until I started researching/questioning my NIPT results (which are negative and most likely correct). So it is hard to understand what happened (I actually had the test twice). I had a true postitive for T21 with Panorama however during my quest to find the accuracy I did run across just a handful of false negatives but pleanty of false positives. However, my husband is a structural biologist and has of course studied some of the genes that are missing. had the result before 30 weeks, so have had time to process, which is good I think. But because of my age (35) and the NT, I was given a chance of 1 in 55 for Down's Syndrome. Or what would be the normal range ? We have been heartbroken for the past 48 hours after hearing this diagnosis. But with an abnormal sono and increased NT this time is very likely that this is true positive unfortunately. I hope the baby gains weight fast for the heart surgery. ", Analysis by Robert Cuffe, BBC News head of statistics. 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?! This limit does not apply to high risk pregnancies. Now Im overcome with anxiety again about my baby having DS. Just waiting for results. MaterniT21 positive for Down Syndrome. not sure which ones you have. Was your 20 week scan ok - as there are other physical features usually present in a a baby with DS and at 20 weeks these can usually be seen. Fascinating! Though for women who have had fertility support, an earlier ultrasound may be done. 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. I wondered for 5 months and it was rotten. Thank you so much x, For my friends little one he came back high risk at 12 week, so they h, Aww thank you so much for sharing this! 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. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. 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 also would like to get another scan. During this difficult time you may be looking information about what the NIPT results you received mean. I'm 27 FTM the nhs couldn't measure babies nt at 12 weeks due to babies position so I had the quad test around 15/16 weeks which came back super high 1 in 7 for down syndrome. For example Im aged 41 so without taking anything else into account I would be counted as high risk. Haha sorry I was typing fast on my phone. I think a better care plan is possible as the medical team know about the DS in addition to the other issues. 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. We are very similar. 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. When it finally came to an end the couple decided to try having a baby through IVF, using some sperm her husband had had frozen and stored before he had chemotherapy. Thank you for responding to my post. I'll take 1 in 70,000 any day over 1 in 7 The BBC is not responsible for the content of external sites. Apparently my doctor was given that information, but didnt look at it. 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. "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. "It was this miraculous pregnancy," she says. As we already have a daughter without DS this is effectively ruled out, but we have had karotyping done to complete the records. 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. Like I said, this is our first pregnancy and we are so scared. 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. and remind ourselved that the NIPT is 99%accurate or rule out the chances that we're the 1% of undetected Downs cases by having an amnio for a 100% accurate diagnosis. This occurs when there is a problem with the fertilized egg, most commonly a chromosomal disorder that makes the pregnancy non-viable. 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'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. If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the CVS. It also talked about the test's reliability. Mariegol, why were you given a 1:32 chance? Since one is HMX1, which he said is a building block gene & very important, we are not going to take the chance and are planning to terminate at this point. False positives are waaaay more common. outlined a number of areas where it has concerns, Contact the Turner Syndrome Support Society, Maximum two drinks a week, Canada guidance advises, US porn star declared unfit for sex crimes trial, Netflix offers $385,000 for private jet attendant, 15 minutes to defend yourself against the death penalty, Polar bear kills woman and boy in Alaska village, Prankster disrupts FA Cup coverage with sex noises, Baby among six killed in possible cartel hit in US, Celebrities who say their children will get no inheritance, World's oldest person, Sister Andr, dies aged 118. I hope this is a false positive (its possible) but what they see on ultrasound on Monday will probably give you the most information. This is where we found out it was a mosaic diagnosis for T21. I have heard that there are rare types of Downs that may be missed and account for the rare false negative. Regardless, NIPT can be wrongit tells you risk of having something but does not tell you if the baby has a genetic issue. We go through life and any manner of things can crop up down the line. Although I agree that harmony/panorama are better screening tools. I did the Panaroma NIPT test at 10 weeks. soft matkers are common. Do you mind me asking if baby was born ok after your high risk screening? - BabyCenter Canada They were told he wouldn't walk, talk blah blah blah - he does both, is a lovely little boy and he's thriving in a specialist school and is such a fabulous kid. He actually didn't have DS/Edwards or Pataus but has got other conditions which included global development delay and autism. So far his muscle tone is pretty good. To comment on this thread you need to create a Mumsnet account. Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) apparently they suck at looking for anything other than trisomies. they used a site that combines the test results with my age, and test specificity. Yep 2020, blood sample collected approx 13 weeks ago. Genetic testing is also covered by OHIP, but is only available under very specific defined conditions. Without having a CVS or amniocentesis you cant know for sure but youve got the lowest possible chance without an invasive test. Listen to Charlotte Hayward's report into NIPT on the Today programme on Friday 8 February, or catch up later on iPlayer. Omg we are in very similar boats. This educational content is not medical or diagnostic advice. I have been told that they arent 100% but can feel pretty confident in the NIPT. his scans look great, my main concern was heart defects but all looks good so far at 23 weeks! What was the blood test result from that (the Papp-A)? 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. Your genetic counsellor will tell you if you are eligible for a genetic test. Your post will be hidden and deleted by moderators. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. 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?? 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. But since I got reassurance first and then they confirmed this soft marker (but probably the most damning soft marker), now Im questioning if I should trust the test. 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. It's mainly used to screen for Down's Syndrome and two other chromosomal anomalies, Edwards Syndrome and Patau Syndrome. Has anyone had a false positive with this test? Wow! I did the harmony on Tuesday.. if the tests are positive then I think i'll ask for the Amino. Can you share what your third trimester amniocentesis was like? After this head over to this post about the actual individual results: https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/ IF YOU HAVE A POSITIVE FOR TRISOMY 13, TRISOMY 18, TRIPLOIDY and NORMAL SONOS for NT scan and further normal sonos, PLEASE READ CAREFULLY about CVS vs AMNIO. Did you get FISH results that confirmed your doctors suspicion? I also agree about people and doctors and how they view DS. Thanks, that is really interesting about the mosaic DS. We meet with a specialist on Monday to do an ultrasound to confirm this finding. First time pregnancy here.Im 32 years old living in Canada. The NIPT also came back positive for Down syndrome. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. To put that into perspective - the NHS only goes up to 1 in 10,000 and they only follow up on results under 1 in 150. But later in the day, Claire spoke to a friend who encouraged her to find out more about the test. Join the conversation - find us on Facebook, Instagram, Snapchat and Twitter. So, in my case, the NIPT negative was a true negative. 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. 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. Excellent NT Scan, Positive Blood Results. Please whitelist our site to get all the best deals and offers from our partners. He has brought so much joy to our lives. I wish I had done more research and spoken to more people as we should have done a CVS. This educational content is not medical or diagnostic advice. But if it's a rare condition - say less than one-in-100 - then most of the positive test results will be health scares. Weve have a baby girl due in 7 weeks and I know hell be the best Big Brother! 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. NIPT for Down's, Edwards and Patau syndromes has recently become available to pregnant women on the NHS in Wales who are considered to be in the higher chance category, and it has been promised to women in England in the same category in the near future. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. Discussion. Privacy Policy. 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. Is it possible to be pregnant and get a negative pregnancy test result? Can NIPT tests be wrong? Wow! Yesterday we had an ultrasound & genetic counseling with the option of amniocentesis. It was the blood test and my maternal age of 36 years. Are you glad you had the amnio? It's mainly used to screen for Down's Syndrome and two. So why market it so? little issues deleted by moderators good think! Women who have had karotyping done to complete the records happened ( I 'm a worrier that... Who have had karotyping done to complete the records have very little.! Patau Syndrome in Canada and it was rotten create a Mumsnet account very specific conditions. 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