why is my nipt test inconclusive

False positive rate for monosomy X was surprisingly high (91%). Fingers crossed for u! My OB told me to that when she pressed the genetic counselors at the lab that they said that two inconclusive tests could either be from 1)obesity (my BMI is 19, so I am very thin) or 2) it may mean the results will come back abnormal. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. Fingers crossed your 12 week scan comes back ok. So frustrating!!! It has to be at least above 4 percent to give a conclusive result. NIPT is commonly used for chromosomal disorders that are caused by the presence of an extra (triploidy) or missing copy (aneuploidy) of a chromosome. Which made me really nervous, would that really be necessary, when my other results (the NT and efts) were fine with low risks? There are a few other reasons for odd results. Anyway my obgyn receptionist scared me a bit (I know it wasnt on purpose) when she said she has never seen inconclusive results twice, and that geneticist might recommend me to do an amniocentesis?? If that is all normal I wouldnt worry about this. It made me wonder if sometimes these modern advances can cause unnecessary concern during an already stressful time, but at the end of the day I am thankful we were able to get the answers to these questions. Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. To help you get started read our. I would recommend asking the doctor for the standard NT blood test this way they can at least use that the equation for your 12 week scan. I share my story because in my case although the NIPT test was accurate, it did cause a great deal of extreme worry about my baby. Science has produced many safe, medically sound, and accurate methods to determine the sex of a fetus during pregnancy. Inconclusive NIPT test Emmap8729 12/04/18 I am 16.6weeks pregnant, I had the NIPT test done at 10 1/2 weeks. The advantage of NIPT over other tests is that it can be done early during pregnancy and is . The anxiety is next level as I was the same BMI with my son and got a NIPT result. Our baby showed up high risk for Turner syndrome and its quite the roller coaster ride. hello, just wondering if this has happened to anyone? You are right! I just found out today at 12.5 weeks that my test was not conclusive. . I was told this could have been b/c I'm overweight or because the test was done on the early side (close to 10.5w). So my other option is to go the NT scan/sequential screen route (which also had to be done now) and then the 2nd draw at 16w for the best possible risk determination aside from NIPT testing. Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. I wish you and your baby boy all the best too! Use of this site is subject to our terms of use and privacy policy. Noninvasive prenatal tests, or NIPTs, screen for an array of rare genetic conditions. I won't be able to relax until my next ultrasound hopefully the I will see a decrease in the soft markers! It was a long 3 weeks and everything turned out fine in the end. Then 12 week scan showed 3mm NT. So sorry youre having to deal with this, and having to sit with this anxiety a bit longer. They did not recommend further evaluation or testing with him. It's so crazy! I just found out my nipt results were inconclusive and I really wasnt stressed before but now I am. Collection centres for all other genetic tests, Genetic counselling for other heritable disorders, Genetic counselling for selected familial disorders, Reproductive carrier screening genetic counselling. For my first baby In 2019 I used the Invitae NIPS and it came back with no issues. Negative impact on family and personal relationships. Manal92! Are you going to try the blood test again? Reasons behind an inconclusive prenatal paternity test. Ugh. Our fees are set at a level to ensure that we can deliver a high quality and comprehensive genetic pathology service to you. Some radiologists like to comment on ALL the scans the technicians provided even the poor quality ones. But there was another woman in the waiting room that had a similar issue and said that sometimes they can't find a reason as to why the results come back inconclusive. We work hard to share our most timely and active conversations with you. Like dont they know us preggers are already stressing?!? We are committed to ensuring the privacy and confidentiality of your personal information. I got the panerama test at 11 weeks with my second baby. I just wanted to doit for the extra accuracy and seems like a bonus to also find out the gender! What to Expect has thousands of open discussions happening each day. In our case, the NT was perfectso we decided to submit a 2nd sample for testing and it came back positive for trisomy 13. Is the NIPT test conclusive? So sorry to hear that! NIPT is most often used to screen for trisomy. Hi! I have found this NIPT thing to be a major stressor and not sure I would do it again in another pregnancy, but feel I am so far along the process this time lol. I just got the results back and it says test not performed which then says is because of low fetal fraction. Meet other parents of July 2021 babies and share the joys and challenges as your children grow. Mine should** be in tomorrow or Friday. This time around it came back and said suspected maternal mosaciasm and completely inconclusive. Anyone else experienced this? My advice: dont look at it. Links to useful external resources of genetic information for clinicians. I have just taken the harmony test twice this past month with both results as inconclusive.. This occurs about 1 in every 150-200 samples. info@sonicgenetics.com.au 1800 010 447 (Australia only) 1800 515 119 U also remember they took the blood very differently to what I have experienced recently. Your post will be hidden and deleted by moderators. Definitely something to bring up. Please guide us. For some patients, however, results are not reported because of laboratory technical issues such as low fetal fraction and sequencing failures. If I could go back, I would skip the NT scan. The cell-free DNA tests also screen for other chromosomal abnormalities other than Down's, such as Edward's syndrome. Since I had two tests come back inconclusive, and my first trimester screen put me at a 1 in 32 chance for Downs, I am having an amnio done the first week of March. Has someone fallen into such situation? Anyone else have this come up? Contact us today to learn more about everything that we can do for you. 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. Sources from your great-grandmother to the internet offer tales about how you tell the sex of your baby. I think in my case, my first test must have been borderline. Molecular tests also check for certain changes in a gene or chromosome that may cause or affect the chance of developing a specific disease or disorder, such as cancer. My EFT done at 13weeks came high risk and did NIPT around 15 weeks (harmony) results came back after a week with extreme low risk. Wanted to share my NIPT experience to help anyone else who got inconclusive results.I first took my NIPT test at 10 weeks on Sept. 30. That means whatever caused no result the first time is still interfering with the test. The #1 app for tracking pregnancy and baby growth. The #1 app for tracking pregnancy and baby growth. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. Infertility is a very common symptom according to my research but despite some fibroids, cysts and a Uterine septum I got removed about 10 years ago, Ive had zero issues with infertility and got pregnant within 2 months each time. If there is insufficient fetal DNA, the result would only reflect the mothers genetic status, not that of the fetus. That only happens in 1% of tests. I had two inconclusive nipt tests at 12 and 13 weeks. Press question mark to learn the rest of the keyboard shortcuts, MOD obgyn PA False Positive +T18 girl 2020, https://www.perinatalquality.org/Vendors/NSGC/NIPT/, https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/, https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/. Apparently some places will do your test when theyre not supposed to. and mine came back at 3.7% and couldn't be read. I dont have experience with this personally, but Ive certainly heard of this and it ends up turning out just fine! Just wondering if anyone has been through something similar :( thanks. 16 week ultrasound scheduled for Monday, June 6 and Amniocentesis scheduled for Wednesday, June 8. This testing analyzes small fragments of DNA that are circulating in a pregnant woman's blood. Stay off Google, oh my gosh, stay off Google! The most common reason for NIPT failures is that the blood sample did not have enough genetic material (DNA) from the pregnancy. Learn more about. She should hopefully have a happy healthy baby now.. Hi guys, currently in the same boat. I hope your quad screen is conclusive so you get some answers. The waiting is almost unbearable. I'm 37 years old and his is my second baby. Noninvasive prenatal testing (NIPT) has become popular with many physicians in screening pregnant patients. Below this, the nipt returns the result "inconclusive." after the nipt results: Inconclusive sca an inconclusive sca. Inconclusive Panorama DNA test results! Apparently you are able to conceive, so maybe being mosaic is not that bad after all? They all came back negative ! I personally had it happen. It lead to 3 weeks of PURE hell. I am booked for a 12 week scan this week. Repeated the test and no issues! I am definitely going to try to stay away from google. Archived discussions are usually a bit older and not as active as other community content. Thanks! Please add flair to your username with your NIPT result so others can easily see your history when you comment. When do you expect to get your results? The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. I'm only 24, with two previous healthy pregnancies & babies. Also for fun, i found a lady who does private ultrasounds who comes to my house and gave me a 3d ultrasound and little bug looks fine to me and its reassuring. Group Black's collective includes Essence, The Shade Room and Naturally Curly. Inconclusive NIPT test results : Hello everyone I just got a call from genetic counsellor saying that my nipt test results are inconclusive as there is not enough fetal DNA present. I never had 1st tests for downs and all was going fine until my 19 week scan where they found one enlarged kidney . I'm not sure how that works, but it doesn't necessarily indicate a problem. Easy to overthink (I sure did) and assume the worst - feels like Sod's law at the . ! Making medicines personal. Ive been referred to edmonton fetal medicine not so much because they are worried but more because NIPT is new and finding out why we get inclonclusive results would help the technology advance more. Crossing all fingers and toes its just a lab error. Find advice, support and good company (and some stuff just for fun). Thank you for sharing your personal story with me. They could well be inaccurate- most companies require at least 3%. I hope this helps you consider an alternative, less stressful reason. Someone please help calm my nerves! I've read online it could happen to plus size moms? What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. There are many reasons NIPT may not give a result. I'm petrified of false positives but felt like I couldn't gamble getting inconclusive results from a 2nd NIPT and, therefore, missing out on having ANY testing. The couple decided that they wanted to know if there was a chance that the baby had Down's Syndrome and privately paid for a blood test known as NIPT - a non-invasive prenatal test - which. Don't despair if your grandmother's wisdom turns out to be little more than a good guess. Has anyone else had this happen to them? Hope you're doing OK. Both said due to low fetal DNA at 2.6% and 2.7% respectively. Being scheduled for follow 15+3, originally didnt want extra testing beyond Trisomy 18 positive - any chance of false positive? Acosta decided to take advantage of non-invasive pregnancy testing, or NIPT, a relatively new prenatal screening method. (Don't quote me on that, just what I've read.). Our commitment to quality means that we will only provide a result when there is very clear evidence for, or against, the presence of a specific disorder. I'm so confused and don't know what option to take right now. I bawled and was so upset, we already has concerns and this was just even more worrisome. *** Your email address will not be published. I had two test come bck with not enough fetal dna was very worried as the year before same thing had happened with nipt but bubs ended up having t18 so first instinct was it's happening again but this time I was on blood thinners due to dvt from covid and being intubated for 7 days my dr told me not to be worried as my morph scan came bck fine no abnormalities were found in scan and measurements were all In normal range this was at 14 weeks had my scan at 19 weeks and bubs is doing fine everything is ok unless you have comme bck high risk I yhink nipt test are just stressful I'm now currently 24 plus2 and everything is going well God willing I hope this gives you some comfort have faith and hope all the best, Meet other parents of September 2018 babies and share the joys and challenges as your children grow. In some cases, a test result might not give any useful information. 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. I swear I'm going to take a loooooong break before having anymore kids because this pregnancy has been extremely stressful! Our commitment to quality means that we will only provide a result when there is very clear evidence for, or against, the presence of a specific disorder. I also had the CVS performed yesterday and decided since I had already paid for the NIPT I may as well try once more! 20052023 BabyCenter, LLC, a Ziff Davis company. I know i'm not really that "old" at 35, I guess it's also cos lots of friends around me did the test who are around the same age as me and all recommended it. for the test to get accurate results. ), confined to placenta (best case) or the baby, and it being a boy potentially missing an X chromosome had all the professionals baffled. Since the test is so new they don't have statistics on this but they have seen more recurrant inconclusive results with abnormalities. We are going to have an amnio in coming week as per the genetic councellor suggested us to see what is that coming in NIPT and ultrasound scan..I have also a scan scheduled at week 18 to see if Godforbid is any serious abnormality so we can terminate. This is the route I took with my son (now 4.5) so I'm familiar with it. 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. Half of my cells are missing an X chromosome so it didnt manifest itself too clinically with me and I knew nothing of it for 35 years. NIPT also includes a study of the sex chromosomes, but a result is not always possible. I met with a genetic counsellor who reviewed my file, age and risk, nd we decided together no further testing was needdd however for peace of mind and funsies we did the quad test which is a hormone test and can flag for trisonmies. Please feel free to reach out if you need to vent, ask more questions or need more resources. This time they were able. The #1 app for tracking pregnancy and baby growth. She actually specifically said that it didn't mean anything, bad or good. The NIPT prenatal test is a trusted elective screening tool used to assess the genetic risk of a fetal chromosomal abnormality, such as Down syndrome, in the first trimester of pregnancy. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. I got the results yesterday and another inconclusive. What the heck, now so stressed! Interpreting non-invasive prenatal test (NIPT) results. No? Unlike most DNA, which is found inside a cell's . We are Australias largest private genetics referral laboratory. the test and lead to no result. Are you going to have amnio? In 2015, the American. I'm glad it went well for you in the end, and seeing the baby in 3D sounds reassuring and nice!! During pregnancy, opting for a non-invasive prenatal test has become the norm. I was told this could have been b/c I'm overweight or because the test was done on the early side (close to 10.5w). I had a healthy son in 2020 in which they could not determine the gender. Thank you, I am hoping it's just a silly lab error. The non-invasive prenatal test (NIPT) is an accurate screening test for common trisomies, sex chromosome aneuploidies and other selected chromosome abnormalities. I just opted to the NIPT at the same time I did the EFTS, as I have heard that there can be lots of false positives due to different factors including age. Mine is also only 1mm over so I'm sure it will be find it's just the not knowing! Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. Thanks, I'm still waiting! , the result would only reflect the mothers genetic status, not that of the fetus. It's a screening test offered during pregnancy to see if the fetus is at risk for having a chromosomal disorder like Down syndrome (trisomy 21), trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome). My NIPT came up inconclusive the first time as well. The hospital has referred me to genetic counselling after I told them I had two inconclusive nipt. No, NIPT is a screening test, not a diagnostic test. The inconclusive result was due to my fetal fraction being 4.4%. I did have some learning difficulties when I was younger, specifically with math that was chalked up to lazinessor just not a math person but I graduated from college and had/have a great career. Please contact the moderators of this subreddit if you have any questions or concerns. I believe the odds of retest are actually 5%? Certain prenatal screening tests like NIPT are very accurate for conditions such as Down syndrome, but less so for rare genetic conditions. The OB said that for some reason they couldn't test because of my blood sequence or something? Thanks for sharing your story! NIPT does not test for all chromosomal disorders. My NIPT came up inconclusive the first time as well. 14/01/2022 22:06. I was given the option to re-test (tomorrow) in hopes of results coming back conclusive. MaterniT21 positive for Down Syndrome. I hope the baby is growing healthy. It's most likely the mosaicism, or a twin embryo that did not take. The test can also determine the sex of the fetus. Please place POST FLAIR on your actual post. Ive done nipt through generations and Harmony both reputable brands and they would never give results with that low of a fraction, as it could come from contamination from say, the person drawing the bloods or the one analysing touching the tube to read results. 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/, *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/. Why genetic testing is bad? Thanks for sharing your situation! To me, it was important to have both tests done, as even though there is some overlap, they do test different things. Its 100% accurate (I believe). I am very curious in your case of you are mosaic Turner yourself, have you had any issues with growth? With my first daughter there was an ECF as well that resolved itself. I am going to get a level 2 ultrasound before opting to a amino because like my doctor said I'm not even considered a high risk pregnancy! Reason being: these tests utilize actual DNA and not soft markers. Results in some cases may return inconclusive or uncertain. THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. Just waiting for the office to call back to rebook. We are part of Sonic Healthcare, an acknowledged world leader in the provision of diagnostic services, and Australias largest pathology provider. but now i wish i never did it as its stressing me out, and probably not even necessary in the first place.. anyways good luck to the both of us :). When this happens, the testing companies would rather report and inconclusive than a wrong result. I was 11 weeks and 2 days when my blood was drawn. I guess this is not so uncommon. I had two NIPT come back inconclusive. How far along are you currently? Getting my blood redrawn tomorrow. They said I can get retested and said maybe cause blood had to fly from nz to au? Show your support by. Some chromosome conditions NIPT cannot screen for include: Heart defects Abdominal wall defects 3) anything that the NT scan would show (that NIPT wouldnt), the anatomy scan will also show in 20 weeks and that is a standard test for AMA people, as well. I am just trying to stay positive and busy during these weeks of waiting, and hoping for good news in March. 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. Often After hearing so many inconclusive NIPT results or issues do you know if there is another option/testing I can request? sunlive death notices, Issues do you know if there is another option/testing i can request baby growth is all normal wouldnt... Follow 15+3, originally didnt want extra testing beyond trisomy 18 positive - chance. Conditions such as Down syndrome, but a result is called uninformative, indeterminate, inconclusive, or,! 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