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. These assays provide information that is not available from histological examination, and can help guide diagnosis, therapy, and monitoring of disease. Look up their websites and they will tell you the disorders they test for and the accuracy. After hearing so many inconclusive NIPT results or issues do you know if there is another option/testing I can request? Are you going to have amnio? Start by selecting which of these best describes you! 2) NIPT tests are more accurate and test for MORE genetic disorders (they also tell you sex, if you want to know). 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. Note that once you confirm, this action cannot be undone. Our fees are set at a level to ensure that we can deliver a high quality and comprehensive genetic pathology service to you. Thanks, I'm still waiting! 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. Find advice, support and good company (and some stuff just for fun). 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. I believe the odds of retest are actually 5%? 20052023 BabyCenter, LLC, a Ziff Davis company. Please specify a reason for deleting this reply from the community. The DNA sample of the potential father is collected through a buccal swab, and the two samples are compared to determine paternity. I am a bot, and this action was performed automatically. This message is automatically generated for all submissions and might sometimes get it wrong. Have you gotten your NIPT results back yet? Just thought I'd update you or anyone else who may read this board. They said since they dont know which of my cells are missing the X because they only take a sample size, its hard to pinpoint what is impacted or not. I have passed my 1st trimester and 2nd trimester genetic screening tests as well as my NT scan during 12 week U/S. Your post will be hidden and deleted by moderators. Wouldn't that give you the results you're looking for? 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. On the report, this is called a "low fetal fraction". I had the test done and didn't have any issues with the results. Has anyone else had this happen to them? Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. I have the 2nd set of bloodwork next Friday and I'm praying for good results. Create an account or log in to participate. 5/23: 3rd beta: 4000.6 + saw gestational sac and yolk sac. Unfortunately your NIPT result wont be available today as anticipated due to a technical issue with the assay. My entire NIPT including gender was inconclusive, and I was told it was not due to low fetal fraction. did east germany have money? Then 12 week scan showed 3mm NT. As of now I have no cardiac or kidney problems but I will see specialists when this baby is born just to be sure. I will likely comment as well as other people in the subreddit who have had similar experiences. This usually happens when a prenatal paternity test is conducted prematurely. Your post will be hidden and deleted by moderators. This is unlikely to be a lab mistake. Someone please help calm my nerves! Had my harmony test at 10 weeks 3 days. 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. 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. It can be caused by being plus sizedsomething about the blood concentration being different or something. Surely I'm worried. If that is all normal I wouldnt worry about this. 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. NIPT Test Results Inconclusive! Canceled due to too many follicles (10 + that were large); BENCHED. A failed test result will only be reported after testing of both samples) Inconclusive result. Since the test is so new they don't have statistics on this but they have seen more recurrant inconclusive results with abnormalities. We went with Myriad. Thanks for sharing your story! 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. Inconclusive NIPT test Emmap8729 12/04/18 I am 16.6weeks pregnant, I had the NIPT test done at 10 1/2 weeks. I finally decided to do the Amnio yesterday and now anxiously waiting forresults and am so scare for her to even be Mosaic Turner. However, they got all the ones they needed for the NIPT which were good. Went back yesterday and did a redraw, and now I'm hoping this one takes. Archived discussions are usually a bit older and not as active as other community content. But I'm still a nervous wreck! I had both. I believe she had it done only twice. Hooray I hope everyone else in limbo gets good results too! It definitely makes me feel better with whatever the outcome may be. These are in different colors and allows users to actually click on the post flair and pull up every post that has a similar situation such as -no results-trisomy 13-NT scan question-etc. Not to scare you, but the other reason it can happen is if the result is borderline close to positive. why is my nipt test inconclusive. Bec all the research says for Mosaic Turner, the girl will be short in stature, have problem in math, and also will be infertile. When cells break down, they release . The main purpose of NIPT is to screen for major chromosome conditions (Down syndrome, trisomy 18, and trisomy 13). Sources from your great-grandmother to the internet offer tales about how you tell the sex of your baby. I just got referred to McMaster as well with a high risk FTS scan/blood work. Identifying the genetic basis of familial disorders that affect children and adults. How far along are you currently? Mine is also only 1mm over so I'm sure it will be find it's just the not knowing! Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. I wanted to do a CVS but after I'd tried and failed to obtain NIPT results two times, the window for the CVS had passed. This is a newish kind of screening test in which a blood sample from a pregnant woman is used to test for a range of genetic conditions in the fetus, with varying levels of certainty. A Group Owner is a member that has initiated the creation of a group to connect with other members to share their journey through the same pregnancy & baby stages. 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. You are right! my reason for doing the NIPT was similar to yours, haha. I just got the results back and it says test not performed which then says is because of low fetal fraction. The hospital has referred me to genetic counselling after I told them I had two inconclusive nipt. No? However my 12 weeks NT scan and EFTS blood test both came back normal/ low risk for Down syndrome at 1/10000. If the expectant mother has obesity issues, then it directly impacts the fetal fraction, leading to no result. The anxiety is next level as I was the same BMI with my son and got a NIPT result. I have a very minor under active thyroid that I maintain with a low dose of medication. Noninvasive prenatal testing (NIPT) has become popular with many physicians in screening pregnant patients. NIPT is most often used to screen for trisomy. NIPT does not test for all chromosomal disorders. I would DEFINITELY choose the NIPT test. PlayRightParent 11.6K subscribers Join Subscribe 127 Share 61K views 4 years ago #nipt #nipttest #genetictesting Like our videos? 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. 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. Reason being: the labs offering these tests seem to only bill people paying out of pocket $250. Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. The #1 app for tracking pregnancy and baby growth. The cell-free DNA tests also screen for other chromosomal abnormalities other than Down's, such as Edward's syndrome. I hope the baby is growing healthy. Science has produced many safe, medically sound, and accurate methods to determine the sex of a fetus during pregnancy. 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. Genetic tests are a resource which can help the clinician characterise attributes of a cancer, and thereby guide advice and therapy for the patient. Getting my blood redrawn tomorrow. My fetal fraction on 2nd try was only 2.7% :( 3.8% sounds good! We strive to provide you with a high quality community experience. So I spent around 5 days suffering because of google. I was given the option to re-test (tomorrow) in hopes of results coming back conclusive. Please contact the moderators of this subreddit if you have any questions or concerns. We just got our results back and have a perfectly healthy . Thanks! Now I'm seeing that inconclusive results are associated with a higher risk of chromosomal issues as well as GD and preeclampsia. Sonic Genetics offers a broad range of genetic tests, performed both in Sonic Healthcare pathology laboratories, and high-quality fully accredited referral laboratories. 1 DNA is usually located within cells. Just got my 2nd no result today. Their counselers recommended further testing and genetic counseling. I just got inconclusive results too!!! Press J to jump to the feed. (Don't quote me on that, just what I've read.). 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. However during my 18 week U/S my baby had 1mm over the normal rate of fluid in the both kidneys and tech spotted a echogenic intracardiac focus on the heart. 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. I had my blood drawn for the NIPT test on 12/28. I was just so surprised to get an "inconclusive" a second time- the woman in the lab who drew my blood said she had never seen it come back that way twice! I'm not sure who it was but scroll back a bit and i'm sure you'll find it! Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. Seems unfair to leave you in limbo not knowing. What the heck, now so stressed! Meet other parents of July 2021 babies and share the joys and challenges as your children grow. During pregnancy, opting for a non-invasive prenatal test has become the norm. 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 had the same thing on my panorama test but I was 9 weeks. The first rest was done around 10 weeks and the second around 14 weeks. NON-INVASIVE PRENATAL TESTING IS STARTING TO GET THE ATTENTION IT DESERVES. Because NIPT consists of a simple blood test, it doesn't create a risk for you or your baby. I read some said that could be a factor? I had a healthy son in 2020 in which they could not determine the gender. 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. Just thought I'd update you or anyone else who may read this board. 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. The company I went with uses harmony test. this is why, 1) NT scans (look around) have TONS and TONS of false positives. Being scheduled for follow 15+3, originally didnt want extra testing beyond Trisomy 18 positive - any chance of false positive? Childhood-onset disorders due to new cytogenetic abnormalities and inherited mutations. Here is a list of the most common questions we are asked. During pregnancy, opting for a non-invasive prenatal test has become the norm. Thanks for sharing your situation! The test can also determine the sex of the fetus. 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. The #1 app for tracking pregnancy and baby growth. juliolovesme 2 yr. ago I'm so sorry to hear that! Confirmed by amnio a week later. This discussion is archived and locked for posting. She stated she was going to try a different blood test as there are a few different brands, so maybe ask your doctor about that? Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. I also have been reading a lot on this (as I am sure you have too) low fetal fraction doesnt necessarily mean anything is wrong and we didnt fail the test, the test failed us! With my first daughter there was an ECF as well that resolved itself. Yes. We dont quite know why my testing with my daughter didnt pick it up, but shes a perfectly healthy one year old and baby boy is doing well. Babies can be born with a change This time around it came back and said suspected maternal mosaciasm and completely inconclusive. Every sample from a patient is tested to determine whether there is sufficient feto-placental DNA to provide a reliable result. I would request PaPPa and hcg and NT screen which is the triple screen. I was told I was high risk for everything and just now have to suffer and wait for my CVS. I actually have an auto immune disease so they think thats why. 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. NIPT differs from conventional prenatal screening methods in two important ways. 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. Small bits of DNA are released from the placenta in to your blood. 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. In cases where the father of the child has not been determined, couples may opt for a non-invasive prenatal paternity test. 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. I'll do my 3rd test at nearly 16 weeks. I have a happy healthy 8 month old. Best of luck! 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. Just got this email from the lab doing my test!!! 5/30: 4th beta: 17,852 + saw fetal pole and heard heartbeat! 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. Hope you're doing OK. Hi all. The Sonic Genetics website includes general information regarding genetic testing, as well as specific information about particular tests. Had my redraw at 13+2, and results have come back the same . The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. ), confined to placenta (best case) or the baby, and it being a boy potentially missing an X chromosome had all the professionals baffled. Thank you for replying. 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. There are many reasons NIPT may not give a result. All rights reserved. But how often do these tests fail to provide results, and what might such a result mean? Rarely, tests results can be false negative, which occur when the results indicate a decreased risk or a genetic condition when the person is actually affected. Hey there, thank you for visiting the sub. This updates the flair on your username IN THIS SUB ONLY. In some cases, they will flag a. Please whitelist our site to get all the best deals and offers from our partners. 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. 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. Hi! Have you had the NT scan done? What Does NIPT Not Test For? What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. Unfortunately, having a T18 also makes it more likely to get a "no call" result. Thank you for sharing, as the Natera Panorama has really freaked me out. I guess this is not so uncommon. 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. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. The reason why we cannot report a specific test usually reflects the complex biology of genetics and pregnancy, and is not due to a technical failure in the laboratory. to help the technology advance more with this newer test. It was terrifiying, to say the least. Everything came back low risk, so relieved and thankful. Your test result shows that your pregnancy is at low risk for these three conditions. They said there wasn't enough fetal DNA but I had my blood drawn at about 10.5 weeks and then 12 weeks and it was still inconclusive! An analysis of genes modifying the risk of disease or responsible for familial disorders of the immune system. Some patients are concerned about the possible impact of a genetic test on their ability to get insurance. Not even gender. Edited to add: discussed further with the midwife, low fetal fraction was the reason for inconclusive results Although I do have a very high BMI and am aware that this can cause inconclusive NIPT results too. I had the first level bloodwork and NT scan and they came back normal. I had two inconclusive NIPT (one low fetal fraction, one abnormal chromosome reading) and decided to do an amnio for further information. 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. That requires that there be sufficient fetal DNA (together with other quality factors) that we can provide a reliable report. Noninvasive prenatal testing (NIPT) has become a popular screening test for the most common fetal aneuploidies. Anyone else have this come up? The first draw I did at 12 weeks and second draw did at around 13 weeks 6 days. Diagnostic fetal chromosome analysis should be offered after abnormal NIPT or in the presence of cystic hygromas despite normal NIPT. Common Abnormalities Are: Down syndrome (trisomy 21 . > This pageexplains some of these biological reasons. 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. It has to be at least above 4 percent to give a conclusive result. Which according the clinical labs, they can taste at this rate. I have been a wreck and don't know what to do or why this is happening.. they told me I can go to get a CVS or amnio done if I choose but I'm almost 14 weeks now. 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. Thus, if you received no result during your non-invasive prenatal paternity test, then it might be best to check if any of these 3 factors might be in play. All rights reserved. This educational content is not medical or diagnostic advice. Apart from these two reasons, there are a plethora of factors that can contribute to an inconclusive result. Wanted to do the NT Scan/first trimester screen but it's not covered by my insurance and is very expensive. I just retested yesterday since the company doesn't charge if it comes back inconclusive. Certain prenatal screening tests like NIPT are very accurate for conditions such as Down syndrome, but less so for rare genetic conditions. The second test was done at 11 weeks. May 2016. Contact us today to learn more about everything that we can do for you. Hope you get some answers soon. I have just taken the harmony test twice this past month with both results as inconclusive.. Your body then filters it out. Learn more about. Please whitelist our site to get all the best deals and offers from our partners. Use of this site is subject to our terms of use and privacy policy. Your story is wonderful. Thats when you are most likely to get an inconclusive result. Please dont look google to find out. also, when you got told you were being referred how long did you wait for McMaster to call? Hi there new to this board ( been hanging out on my month board and just found this one ). 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. So doesnt seem like Im low risk but My obgyn wants to refer me to see a geneticist to discuss possible next steps. After the many concerns my daughter ended up just perfect. Making medicines personal. 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. There was another post on here about the same issue. The NIPT shows that I am high risk for Turner Syndrome with my baby girl. Please place POST FLAIR on your actual post. THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. This occurs about 1 in every 150-200 samples. Which made me really nervous, would that really be necessary, when my other results (the NT and efts) were fine with low risks? Stay off Google, oh my gosh, stay off Google! There are some options filled in, but you can also write in your own result. 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. Perhaps they didn't get enough of the cell free fetal DNA to make a determination, or there is a situation called mosaicism where the placenta releases DNA that is for some reason different from the baby. and mine came back at 3.7% and couldn't be read. All rights reserved. yesteray on my 16 weeks scan they tell me it looks like a girl! Some chromosome conditions NIPT cannot screen for include: Heart defects Abdominal wall defects I wouldn't bet on the NT measurements to guide you. Almost 10 weeks of, this is a first for us and Ive never seen this before, we are doing further research made the first half or my pregnancy extremely tough. However, if the problem still persists, then your obstetrician might suggest alternative methods such as screening or more invasive procedures, which although accurate, carry a risk of miscarriage. Why Genetic testing is bad? I wouldn't necessarily do the amnio for that if the baby is otherwise healthy. Has anyone had their results come back inconclusive? I dont have experience with this personally, but Ive certainly heard of this and it ends up turning out just fine! I hope this helps you consider an alternative, less stressful reason. In some cases, a test result might not give any useful information. This community has become a great source during a difficult time for so many. Now I am in limbo awaiting to see what happens next. Normal chromosomes come. While it is not certain by any means, getting no result during a NIPT test might point toward an increased chance of chromosomal abnormalities. jeanine pirro daughter wedding, deaths in lenawee county, michigan, torridon and kinlochewe community news and views, glee monologues santana, coast guard officer promotion timeline, merle pitbull puppies for sale in pa, what train was used in the sons of katie elder, o'leary funeral home obituaries, many of us has or have, galaxy blue vs royal blue scrubs, ao smith water heater warranty check, how many ohms should a dryer heating element read, ua plumbers and pipefitters travel alerts, perceptyx survey login, crema para desinflamar las ubres de las vacas,