Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. 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. 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. the measurement came back at 1.5.. Normal! HI! Find advice, support and good company (and some stuff just for fun). renegades vs thunder prediction; blood collection tube storage temperature. DS was confirmed but baby has a translocation rather than a straightforward trisomy which is appar why it was not picked up on NIPT. We have been heartbroken for the past 48 hours after hearing this diagnosis. Since there are abnormalities on ultrasound, it makes sense to do a CVS. "I just remember thinking this is science, this is fact I couldn't stop crying, I couldn't walk more than 200m at a time, I just felt hopeless.". The #1 app for tracking pregnancy and baby growth. The #1 app for tracking pregnancy and baby growth. Medical professionals agree that for Down's Syndrome and some other conditions, the technical accuracy of the test is the right level to give helpful guidance. We had an ultrasound 3 weeks ago where there was extra fluid underneath our babies neck, so our midwife suggested we do genetic testing. Can I be 2 months pregnant and have a negative test? Thank you for your response. 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. You got this mama x, Hi. 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. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. Reddit and its partners use cookies and similar technologies to provide you with a better experience. had the result before 30 weeks, so have had time to process, which is good I think. False-positive results can occur in the presence of placental mosaicism, vanishing twin syndrome, or an unidentified maternal condition, such as mosaicism or cancer. Fact Most people who have a screening test will have a negative result, meaning that the baby has a low risk of having Down syndrome. Hey there, thank you for visiting the sub. First time pregnancy here.Im 32 years old living in Canada. I honestly would not spend any time worrying about it being wrong. 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 want to highlight again that this was a personal decision that my DH and I had to make together and we feel confident that we'll be able to move forward without worrying but that there is no correct formula/answer for everyone going through this. If we there are any markers during the ultrasound, we'll opt for the amnio (gulp). These stories make me wonder. Ugh, so now our options are to ignore that result (I'm a worrier so that's hard!) Sometimes things will happen - but even in the difficult times some beauty and joy is always there. , Honestly the thoughts of the amnio wer worse than the actual experience. (THIS IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS that is not what that even means). Your post will be hidden and deleted by moderators. "It was this miraculous pregnancy," she says. Then she read that the positive predictive value (PPV) of the test for Turner Syndrome - the proportion of positive results that are indeed true positives - could be as low as 40% for a 41-year-old woman. I hope you are doing okay! We use cookies to ensure that we give you the best experience on our website. Is prenatal screening mandatory in Ontario? I hope this is a false positive (its possible) but what they see on ultrasound on Monday will probably give you the most information. 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. Estriol, a hormone made by the placenta and the baby's liver There was actually a checkbox on the blood draw form that should have been checked that I received NIPT but that was overlooked by the nurse at my OBs office. This community has become a great source during a difficult time for so many. Will he wait for surgery or do they plan to do it after birth? Are you glad you had the amnio? I just did the nipt test and I am not concerned about having false negatives. Its a very slim chance. Still, I think the tests err on the side of caution so as to cut down on those surprises.. Your post will be hidden and deleted by moderators. Privacy Policy. 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. Lalybro - the nt was great. iceland is 100%. I d, Hi, It's very daunting, but the the medical teams have been as assuring as they possibly could be, I hope all goes well for you next week. Cookie Notice 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. - BabyCenter Canada THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. Interesting! 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. VideoChess gets a risqu makeover, The Nigerian influencers paid to manipulate your vote, How a baffling census delay is hurting Indians, How Mafia boss was caught at a clinic after 30 years. 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?? 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. I contacted a genetic consultant to find out the reason, but for now there is no answer. How do I reset my brother hl 2130 drum unit? 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. Note: I see I am supposed to add flair but it won't let me. The other tests give a percentage although with the nipt testing the odds are less the 1/10000 which is pretty good. But if the CVS comes back mosaics, you may need to follow up with an amnio. I have wondered the same thing! This post is meant as a welcome and quick information / resources to those who have just found this sub. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. Please read top 2 pinned posts & automod message for information about the screen and your result. I completely understand about the anxiety it may have caused. Getting a negative from the NIPT test does not mean that you are safe. She just said "I want to confirm but the baby won't cooperate but I'm confident in the one measurement". I honestly think that if I had the Harmony after the ultrasound, Id be calm? Sometimes there is placental mosaicism (variety of cells in the placenta) that can be different from the babyor the baby can also have a variety of normal and abnormal cells. The micro array results from the CVS came back a couple days ago, and there was an addition on p16.1 of chromosome 4. 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. Met with a genetic counselor yesterday and she confirmed what you said. NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. This updates the flair on your username IN THIS SUB ONLY. Can you share what your third trimester amniocentesis was like? 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. Wishing you good results. He has brought so much joy to our lives Show 3 Previous Comments p palm4569 Dec 10, 2020 at 5:09 PM @shhh2014, 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. Learn more about, Positive NIPT, No Soft Markers, waiting CVS results. Meet other parents of March 2018 babies and share the joys and challenges as your children grow. I am 22 and currently 13w, this is our first pregnancy. A second measure would be good. http://community.babycenter.com/groups/a6741007/maternit21_harmony_verifi_discussion, the most helpful and trustworthy pregnancy and parenting information. Im in the same boat as you tho I had the ultrasound with the markers which gave me 1:3 chance with my age and then took the Harmony test which came back less than 1:10,000. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. If you continue to use this site we will assume that you are happy with it. It was not sore as such just more of a weird pressure feeling. Totally typical. Genetic testing is also covered by OHIP, but is only available under very specific defined conditions. For me it was worthwhile to know, but that's a personal call. we had low risk with our NIPT results from Harmony. Also, we didn't have any markers as part of the ultrasounds Because of the NIPT coming back is low risk and no specific markers, no one suggested I should do an amnio. 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? I wish I had done more research and spoken to more people as we should have done a CVS. I had a NIPT after a high risk screening result at 12 weeks. Best of luck with your decision and your pregnancy, it is not easy but you need to do what feels right to you. 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. I also would like to get another scan. Im not sure. Google nhs counselling self referral xx, NIPT as already said is highly accurate!! If a condition is very rare, the majority of positive screening tests are health scares, and so the technical accuracy rates are misleading. 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. 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. Ultrasound for pregnancy is covered in two ways: a complete prenatal ultrasound and a limited prenatal ultrasound. She also read about one woman whose doctor had told her the test was so unreliable you might as well flip a coin. I understand its a very accurate test, but not 100%. Im sorry youre dealing with this! Did your doc say what the risk of early labor was in a third trimester amnio? I know of two false negatives for t21 via nipt. I started saving them if you are interested I can send them to you. If there are abnormalities on that ultrasound, then I would prepare yourself for bad news on the CVS. We used panoramic for NIPT testing and we received our results that our baby has a 91% chance of having T18. I will tag your post with POST FLAIR on your actual post. I am going to wait for my level 2 ultrasound which is next week and see if any other markers show up. 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. the mfm doctor told me they are really common. It's a hard call, a very individual decision too depending on what the information means for you. Thank you!! Human chorionic gonadotropin (HCG), a hormone made by the placenta So many people told me it would most likely be a false positive because I had normal scans. 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 am sure it will be helpful for him to have supports already in place before he shows any need. We respect everyones right to express their thoughts and opinions as long as they remain respectful of other community members, and meet What to Expects Terms of Use. Did anyone here have a negative NIPT and wind up with an at-birth diagnosis? We go through life and any manner of things can crop up down the line. ", Want help? Had to TFMR at 22 weeks. 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. 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. If there are any problems they can be found in the 20 week ultrasound or if you're really worried theRe is always amniocentesis (which carries it's own risks) As far as I know the 12 week scan can cause a lot of false positives but not the NIPT. Is that what you're referring to? 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. , support and good company ( and some stuff just for fun ) has anyone had a false negative nipt test! Testing is also covered by OHIP, but not 100 % what to Expect ultrasound which is good I.... 22 and currently 13w, this is our first pregnancy storage temperature them... The risk of early labor was in a third trimester amnio of luck with decision... 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