why is my nipt test inconclusive

Best of luck! 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. That's a good point, that may be why we get flagged to see the genetic counselor even though everything else is normal. One such factor is high maternal weight. It has to be at least above 4 percent to give a conclusive result. I hope your 3rd test will give you the 4% you need! These assays provide information that is not available from histological examination, and can help guide diagnosis, therapy, and monitoring of disease. Its been very interesting learning this for sure and although my symptoms are extremely mild and nothing showed up for my daughters testing last year when I was pregnant with her I still of course hope this wasnt passed down. Results in some cases may return inconclusive or uncertain. Did you opt for an amnio? Reasons behind an inconclusive prenatal paternity test. For some patients, however, results are not reported because of laboratory technical issues such as low fetal fraction and sequencing failures. the most helpful and trustworthy pregnancy and parenting information. Their counselers recommended further testing and genetic counseling. All rights reserved. Luckily, my insurance covered both. Just tonight I found out the second draw of blood for the Harmony. haha our timing for the tests sound quite similar, i am waiting for the referral to see the genetic counselor, so for now will have to wait and see what they recommend. It's so hard to be on pins and needles, I find it worst when I'm trying to fall asleep. So I spent around 5 days suffering because of google. Some chromosome conditions NIPT cannot screen for include: Heart defects Abdominal wall defects did east germany have money? 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 :). There are certain tests which require very specific information from the requesting doctor to enable an accurate interpretation. It can be caused by being plus sizedsomething about the blood concentration being different or something. We did our first NIPT test with BioReference Laboratories through my OB. 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. Ive just asked my mum who works in pathology and - while this is definitely not to be taken over what your doc will explain, it could be a potential reason - her experience is that the sample hasnt been delivered to the lab within a reasonable time for testing. The reason why we cannot report a specific test usually reflects the complex biology of genetics and pregnancy rather than a technical failure in the laboratory. Why did repeat testing not give a result? thank you for sharing your story. 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. It lead to 3 weeks of PURE hell. Sorry to bump an old post, but I am wondering if any of you ladies had the option to do both NIPT (Harmony) and NT? Can you call the genetic counsellor at the company that does the NIPT and ask for information on specifically what they found (or didn't find) that made it inconclusive what the results might mean? Patients having this testing should know that NIPT results do not diagnose a genetic condition or give a yes/no answer, and should seek follow-up testing if appropriate. Here are 3 factors that can lead to such a result. What to Expect has thousands of open discussions happening each day. This discussion is archived and locked for posting. We went with Myriad. Were they able to get a conclusive result second time round? In approximately 1% of women, the NIPT result is unable to provide an assessment about one or more of the disorders being screened, or cannot provide an assessment of fetal sex. While it is not certain by any means, getting no result during a NIPT test might point toward an increased chance of chromosomal abnormalities. Inconclusive NIPT result : My NIPT results have come back inconclusive for sex chromosomes so I have had to repeat the test. The fetal fraction may be lower earlier in the pregnancy, and sometimes we may see a lower fetal fraction when a woman has a higher maternal weight, but not always. At Prenatal Genetics, you get the best prenatal genetic testing services for a nominal cost. The NIPT shows that I am high risk for Turner Syndrome with my baby girl. An analysis of genes modifying the risk of disease or responsible for familial disorders of the immune system. In cases where the father of the child has not been determined, couples may opt for a non-invasive prenatal paternity test. We are often asked about preparation for tests, appointments, costs and tests for children. Not even gender. Have you had the NT scan done? Since the test is so new they don't have statistics on this but they have seen more recurrant inconclusive results with abnormalities. Hope you get some answers soon. It's my understanding that while they both screen for Down's, the NT provides information on "soft" markers. We work hard to share our most timely and active conversations with you. Went back yesterday and did a redraw, and now I'm hoping this one takes. I'm so sorry to hear about your first trimester screening. Did you get a conclusive test result in the end? The #1 app for tracking pregnancy and baby growth. MaterniT21 positive for Down Syndrome. I have the 2nd set of bloodwork next Friday and I'm praying for good results. And I'm sick with worry since my first trimester screen came back abnormal. She actually specifically said that it didn't mean anything, bad or good. It's. Your test result shows that your pregnancy is at low risk for these three conditions. . Pregnancy. The information on this website is provided for your general information and is not a substitute for the specific advice of your treating doctor. There are many reasons NIPT may not give a result. In 2015, the American. 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). Just waiting for the office to call back to rebook. I got the panerama test at 11 weeks with my second baby. yesteray on my 16 weeks scan they tell me it looks like a girl! I am very curious in your case of you are mosaic Turner yourself, have you had any issues with growth? Ugh. Hope you're doing OK. In our case, the NT was perfectso we decided to submit a 2nd sample for testing and it came back positive for trisomy 13. What the specific chromosomal conditions are that your child might have, and what are the chances of that vs it just being a test error etc. Acosta decided to take advantage of non-invasive pregnancy testing, or NIPT, a relatively new prenatal screening method. Had my harmony test at 10 weeks 3 days. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. (High HCG, low PAAP-A, normal nuchal translucency.) 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. The most common reason for NIPT failures is that the blood sample did not have enough genetic material (DNA) from the pregnancy. Both said due to low fetal DNA at 2.6% and 2.7% respectively. I personally had it happen. This means that the result is not clear and a result cannot be produced. My ex husband and I struggled to conceive for years. Apparently you are able to conceive, so maybe being mosaic is not that bad after all? Please whitelist our site to get all the best deals and offers from our partners. You can do an amnio. Hooray I hope everyone else in limbo gets good results too! We are Australias largest private genetics referral laboratory. All rights reserved. 5/23: 3rd beta: 4000.6 + saw gestational sac and yolk sac. I am a bot, and this action was performed automatically. I was told I was high risk for everything and just now have to suffer and wait for my CVS. NIPT also includes a study of the sex chromosomes, but a result is not always possible. Stay off Google, oh my gosh, stay off Google! I don't know what to do now? So as others have said, keep the faith if your first test is inconclusive! Thanks for sharing your story! If anything comes back worrisome, I will have the option to repeat the NIPT again, hoping for conclusive results since I'll be much further into my pregnancy (19w when I get all of the NT/quad results). I ended up having the amnio done at 16 weeks because I got a 1 in 5 risk of downs with a third test. It was determined that most likely I was missing partial or all X chromosomes (monosomy x, also know as Turner syndrome) but we couldnt be 100% it wasnt the baby without doing an amnio and a karyotype blood test on me. I believe the odds of retest are actually 5%? During this difficult time you may be looking information about what the NIPT results you received mean. . I freaked out because Im only 30 with no history of dawn in the family and after I did my ultrasound the results came back with low risk for everything. I'm sorry to hear that! So sorry, the waiting is so tough. It's just the not knowing and then always hearing the word "probability"! This time they are sending me to a high risk doctor. No, I am a public patient. and mine came back at 3.7% and couldn't be read. 5/30: 4th beta: 17,852 + saw fetal pole and heard heartbeat! I just found out today at 12.5 weeks that my test was not conclusive. But higher weight makes NIPT more likely to come back with a "no call" result (although generally not until >180 kg). TX: IUI #1 with Follistim. I have a happy healthy 8 month old. I got the results yesterday and another inconclusive. 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. I'm so confused and don't know what option to take right now. In medicine, a laboratory test that checks for certain genes, proteins, or other molecules in a sample of tissue, blood, or other body fluid. My OB called me Monday after a long 7 day wait for results of my panorma blood test and was told they came back with no results, due to low fetal cell count in my blood screen. Note that once you confirm, this action cannot be undone. you will see them all over the place here. Hello! Although I do have a very high BMI and am aware that this can cause inconclusive NIPT results too. I hope this helps you consider an alternative, less stressful reason. All rights reserved. Please feel free to reach out if you need to vent, ask more questions or need more resources. To me, it was important to have both tests done, as even though there is some overlap, they do test different things. That means the results don't indicate for sure whether your baby has a chromosomal condition. 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. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. May 2016. Apparently some places will do your test when theyre not supposed to. Science has produced many safe, medically sound, and accurate methods to determine the sex of a fetus during pregnancy. Fingers crossed for u! Normal chromosomes come. Non-Invasive Prenatal Testing (NIPT) is a screening test that examines small fragments of DNA (cell free DNA (cfDNA) which are released from the placenta. Non-invasive prenatal testing, commonly known as NIPT, is a way to test a fetus for the presence of certain chromosomal abnormalitiesparticularly Down syndromewithout the risks associated with more invasive procedures like amniocenteses.The necessary information can be obtained from a sample of the mother's blood, which contains some of the fetus' DNA. I'm only 24, with two previous healthy pregnancies & babies. I wouldn't necessarily do the amnio for that if the baby is otherwise healthy. NIPT is commonly used for chromosomal disorders that are caused by the presence of an extra (triploidy) or missing copy (aneuploidy) of a chromosome. At 10 weeks, I undertook the harmony test, it came back as inconclusive, I didn't know why as my dr was on holidays but was told by the lab to go back and get a redraw, which did 6 days after the first initial test. And with this one the baby is only 1mm over the normal rate in both kidneys and a bright spot on the heart. 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'm sure it's just there to drive us insane! Why genetic testing is bad? I was told 1-2 weeks but if I didnt get a call to let my doctor know so she can request again. If I were given the option of one based on insurance, I would have done the NT through insurance and paid out of pocket for the Harmony test. It was a long 3 weeks and everything turned out fine in the end. I wish you and your baby boy all the best too! They did not recommend further evaluation or testing with him. Create an account to follow your favorite communities and start taking part in conversations. Just wondering if anyone has been through something similar :( thanks. 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. Create an account or log in to participate. No problems and the procedure was not nearly as bad as I thought. I'm 37 years old and his is my second baby. 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. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. 127 BPM! why is my nipt test inconclusive. Nipt test inconclusive twice - Page 2: Has anyone had the test come out inconclusive twice? Getting my blood redrawn tomorrow. 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). NIPT (also called prenatal cell-free DNA screening) is a screening test that estimates the risk that your baby will be born with a genetic abnormality, including Down syndrome . Genetic tests are frequently not covered by Medicare or private health insurance, Every sample from a patient is tested to determine whether there is sufficient feto-placental DNA to provide a reliable result. . Thanks for sharing your situation! The #1 app for tracking pregnancy and baby growth. Edited to add: discussed further with the midwife, low fetal fraction was the reason for inconclusive results. My NT ultrasound was normal but they didnt do the blood draw portion because I was getting the nipt, I should ask if they want to do that as well as I may be past the dates for the triple screen draw if I wait for results from my 2nd nipt, Im already 13+2. The Sonic Genetics website includes general information regarding genetic testing, as well as specific information about particular tests. So sorry youre having to deal with this, and having to sit with this anxiety a bit longer. my reason for doing the NIPT was similar to yours, haha. There was another post on here about the same issue. Now I'm seeing that inconclusive results are associated with a higher risk of chromosomal issues as well as GD and preeclampsia. This educational content is not medical or diagnostic advice. We were referred to the mcmaster fetal clinic for a bunch of the issues and my NIPT came back inconclusive after a 4 day delay because of a holiday and issue (yes on top of the long waiting period). Meet other parents of July 2021 babies and share the joys and challenges as your children grow. However, they got all the ones they needed for the NIPT which were good. 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. Group Black's collective includes Essence, The Shade Room and Naturally Curly. Look up their websites and they will tell you the disorders they test for and the accuracy. As of now I have no cardiac or kidney problems but I will see specialists when this baby is born just to be sure. Please guide us. Hey there, thank you for visiting the sub. Hi bubblegum, I am in the same situation and am having a retest next week. 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. Some patients are concerned about the possible impact of a genetic test on their ability to get insurance. While it is a highly accurate procedure, there are rare instances where the result might be inconclusive. My advice: dont look at it. When a medical test is performed in a patient for a particular purpose, it is possible that the test will identify an unexpected abnormality that is not related to the initial reason for doing the test. Interpreting non-invasive prenatal test (NIPT) results. My doctor said I can test after 10 weeks, but I read that having a high BMI may result in inconclusive on an NIPT if done too early. The test can also determine the sex of the fetus. Reason being: the labs offering these tests seem to only bill people paying out of pocket $250. Just got this email from the lab doing my test!!! sm1232, did you receive your results? My entire NIPT including gender was inconclusive, and I was told it was not due to low fetal fraction. The company I went with uses harmony test. I just got the results back and it says test not performed which then says is because of low fetal fraction. I'll do my 3rd test at nearly 16 weeks. 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. Contact us today to learn more about everything that we can do for you. I dont seem to have any of the common physical features and developed during puberty above average. Thanks, I'm still waiting! We just got our results back and have a perfectly healthy . Thank you for sharing your personal story with me. I took my Nipt and it came back inconclusive ! Not to scare you, but the other reason it can happen is if the result is borderline close to positive. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. Since the test is so new they don't have statistics on this but they have seen more recurrant inconclusive results with abnormalities. 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. Show your support by. I'm wondering if because I'm a plus size mother? I just found out today at 12.5 weeks that my test was not conclusive. Just tonight I found out the second draw of blood for the Harmony test came back inconclusive. harry hill family. 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. When do you expect to get your results? A Group Leader is a What to Expect community member who has been selected by our staff to help maintain a positive, supportive tone within a group. My NIPT came up inconclusive the first time as well. So, a "normal" NIPT result doesn't guarantee a healthy baby, and an "abnormal" result doesn't mean your baby definitely has a certain condition. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. the test and lead to no result. Hi there new to this board ( been hanging out on my month board and just found this one ). Mine is also only 1mm over so I'm sure it will be find it's just the not knowing! Please thank your mum for me. If you have been incorrectly told that the accuracy of your result is 99% without a proper Predictive Value calculation please report this somewhere as this actually leads to wrongful terminations of pregnancies in that office. You will see this come up in posts across this sub. Seems unfair to leave you in limbo not knowing. 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. Every sample from a patient is tested to determine whether there is sufficient feto-placental DNA to provide a reliable result. Thanks! Both of these usually go away but I'm just worried! They need 4% (DNA?) I really do feel for those that don't have as many affordable options. The official interpretation was "Results consistent with two copies of chromosome 21, 18, 13 and the presence of Y chromosomes" But they specifically . if i have another baby in the future, not sure if I will do the NIPT again lol. My NIPT came up inconclusive the first time as well. What company did your test? , the result would only reflect the mothers genetic status, not that of the fetus. 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. So frustrating and upsetting for you! Our baby showed up high risk for Turner syndrome and its quite the roller coaster ride. Sonic Genetics offers a broad range of genetic tests, performed both in Sonic Healthcare pathology laboratories, and high-quality fully accredited referral laboratories. We are part of Sonic Healthcare, an acknowledged world leader in the provision of diagnostic services, and Australias largest pathology provider. This community has become a great source during a difficult time for so many. Your post will be hidden and deleted by moderators. Non-invasive prenatal testing (NIPT) using cell-free DNA in maternal blood is a relatively new screening modality for the common trisomies of chromosomes 21, 18 and 13 and sex chromosome aneuploidies. Has someone fallen into such situation? 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?? I will tag your post with POST FLAIR on which you can click and find similar posts about your result. On the report, this is called a "low fetal fraction". Sex chromosome aneuploidy was frequently suspected on NIPT. My nipt/panorama/harmony results came back inconclusive both times. All rights reserved. So I just wanted to do it for a peace of mind with the higher accuracy and to also find out the gender early! Are you going to have amnio? Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. Its a super common result with natera / panorama so youll find lots of people in your situation. The non-invasive prenatal test (NIPT) is an accurate screening test for common trisomies, sex chromosome aneuploidies and other selected chromosome abnormalities. Group Black's collective includes Essence, The Shade Room and Naturally Curly. No NIPT test is accurate below 3.5%. The cell-free DNA tests also screen for other chromosomal abnormalities other than Down's, such as Edward's syndrome. My fetal fraction on 2nd try was only 2.7% :( 3.8% sounds good! I hope this helps. To help you get started read our. Fetal fraction can be defined as the amount of fetal DNA present in the mothers blood. Manal92! I'm sure that it's not a definitive, but I like getting the facts and this has helped me be a little more mentally prepared. That means whatever caused no result the first time is still interfering with the test. Which according the clinical labs, they can taste at this rate. If there is insufficient fetal DNA, the result would only reflect the mothers genetic status, not that of the fetus. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. Learn more about. I would DEFINITELY choose the NIPT test. Is the NIPT test conclusive? 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. 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.

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