Get weekly updates on baby and your body. to help the technology advance more with this newer test. There are many reasons NIPT may not give a result. 20052023 BabyCenter, LLC, a Ziff Davis company. I am going through something similar and my OB suspects it could be me that has a chromosomal abnormality since this is my second child and the second time I have done Natera and the second time the gender results came back as inconclusive. I'm grateful insurance pays for both. In 2015, the American. NIPT also includes a study of the sex chromosomes, but a result is not always possible. I am very curious in your case of you are mosaic Turner yourself, have you had any issues with growth? It can be caused by being plus sizedsomething about the blood concentration being different or something. NIPT Test Results Inconclusive! The company I went with uses harmony test. Id love to know emma went. Just thought I'd update you or anyone else who may read this board. Babies can be born with a change why is my nipt test inconclusive. 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. 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. If you click on the green no results tag low FF youll find all the posts about this in the sub. Note that once you confirm, this action cannot be undone. And I'm sick with worry since my first trimester screen came back abnormal. ! sm1232, did you get the results to your CVS? The second test was done at 11 weeks. Since the nIPT is inconclusive youll have this redrawn but in the mean time I would get the triple screen. Small bits of DNA are released from the placenta in to your blood. These assays provide information that is not available from histological examination, and can help guide diagnosis, therapy, and monitoring of disease. 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! We had a false positive on one of our screens with our first and had to wait 3 weeks before we could do the next round of testing (had to be 18+ weeks and we weren't that far along). I'm so confused and don't know what option to take right now. Everything came back low risk, so relieved and thankful. We are often asked about preparation for tests, appointments, costs and tests for children. Press J to jump to the feed. 20062023 BabyCenter, LLC, a Ziff Davis company. 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. NIPT does not test for all chromosomal disorders. I have passed my 1st trimester and 2nd trimester genetic screening tests as well as my NT scan during 12 week U/S. We are repeating the assay on the same sample you have already sent and we should have that result on Wednesday. . Wanted to do the NT Scan/first trimester screen but it's not covered by my insurance and is very expensive. Learn more about. When cells break down, they release . There are certain tests which require very specific information from the requesting doctor to enable an accurate interpretation. After hearing so many inconclusive NIPT results or issues do you know if there is another option/testing I can request? Anyone else have this come up? Archived discussions are usually a bit older and not as active as other community content. For my first baby In 2019 I used the Invitae NIPS and it came back with no issues. It has relieved some of my anxieties. What company did your test? 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 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). Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. They said I can get retested and said maybe cause blood had to fly from nz to au? Diagnostic fetal chromosome analysis should be offered after abnormal NIPT or in the presence of cystic hygromas despite normal NIPT. Create an account to follow your favorite communities and start taking part in conversations. 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. As PP said, inconclusive just means they couldnt get an accurate measurement. But I'm still a nervous wreck! I hope your 3rd test will give you the 4% you need! I had my blood drawn for the NIPT test on 12/28. Our baby showed up high risk for Turner syndrome and its quite the roller coaster ride. 2) NIPT tests are more accurate and test for MORE genetic disorders (they also tell you sex, if you want to know). Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. Just pooping in about the initial ratio1:10000 is fabulous! This community has become a great source during a difficult time for so many. Both said due to low fetal DNA at 2.6% and 2.7% respectively. info@sonicgenetics.com.au 1800 010 447 (Australia only) 1800 515 119 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. This post is meant as a welcome and quick information / resources to those who have just found this sub. I hope this helps you consider an alternative, less stressful reason. Now I am in limbo awaiting to see what happens next. Had my harmony test at 10 weeks 3 days. So sorry to hear that! I am definitely going to try to stay away from google. This educational content is not medical or diagnostic advice. I needed a NIPT done as there were MANY concerns on my 20 week ultrasound. Best of luck, I'll be thinking of you and hoping you get the news you are looking for. Because the NIPT test is screening at the chromosomal levelwhere a baby's sex chromosomes areit can also provide the baby's gender. Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. Hope you're doing OK. 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. Are you going to have amnio? Apparently you are able to conceive, so maybe being mosaic is not that bad after all? 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. Possible reasons for this include: Timing of blood draw - there is a higher chance for the test to fail when the blood draw is done too early in the pregnancy, I am overweight so that may be a contributing factor, although my OB was still very very surprised since she has had very few patients of any size receive an inconclusive result. Surely I'm worried. I just wanted to doit for the extra accuracy and seems like a bonus to also find out the gender! Thank you, I am hoping it's just a silly lab error. Then 12 week scan showed 3mm NT. SMFM 2015: A failed result on noninvasive prenatal testing (NIPT) may provide insight into what subsequent tests may find, research reveals. 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. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. Please dont look google to find out. It actually doesn't stay in your system that long. 2005-2023Everyday Health, Inc., a Ziff Davis company. If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. All rights reserved. I know its scary and I know my specific situation seems to be rare as far as lack of symptoms and what not so I cant give you any medical advice, but I can tell you that I am living a wonderful and fullfilling and I wish the same for your daughter no matter what the outcome. I'm wondering if because I'm a plus size mother? It lead to 3 weeks of PURE hell. I don't know what to do now? I'm not sure who it was but scroll back a bit and i'm sure you'll find it! This time they were able. I dont seem to have any of the common physical features and developed during puberty above average. 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. It provides information on the placenta and the baby's growth. Acosta decided to take advantage of non-invasive pregnancy testing, or NIPT, a relatively new prenatal screening method. Results in some cases may return inconclusive or uncertain. I hope your quad screen is conclusive so you get some answers. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. I believe the odds of retest are actually 5%? What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. Good luck! So as others have said, keep the faith if your first test is inconclusive! Just got my 2nd no result today. It has to be at least above 4 percent to give a conclusive result. Update: my redraw came back low risk for everything! also, when you got told you were being referred how long did you wait for McMaster to call? 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. My advice: dont look at it. I finally decided to do the Amnio yesterday and now anxiously waiting forresults and am so scare for her to even be Mosaic Turner. So sorry to hear this is your experience. And what was your BMI? 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! If I could go back, I would skip the NT scan. Show your support by. Just got this email from the lab doing my test!!! Noninvasive prenatal testing (NIPT), is a screening test for determining the risk of certain chromosomal abnormalities in the fetus. 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. Confirmed by amnio a week later. Hey there, thank you for visiting the sub. Use of this site is subject to our terms of use and privacy policy. Anyone else have this come up? 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. In cases where the father of the child has not been determined, couples may opt for a, Fetal fraction can be defined as the amount of fetal DNA present in the mothers blood. Sex chromosome aneuploidy was frequently suspected on NIPT. Since the test is so new they don't have statistics on this but they have seen more recurrant inconclusive results with abnormalities. I am a bot, and this action was performed automatically. Normal chromosomes come. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. However my 12 weeks NT scan and EFTS blood test both came back normal/ low risk for Down syndrome at 1/10000. (Don't quote me on that, just what I've read.). Had my redraw at 13+2, and results have come back the same . Your body then filters it out. Your post will be hidden and deleted by moderators. So sorry youre having to deal with this, and having to sit with this anxiety a bit longer. I will keep you all informed about this issue. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. Just thought I'd update you or anyone else who may read this board. I had both. Welcome to Abnormal NIPT screening results! The #1 app for tracking pregnancy and baby growth. Prediction of other SCA was more accurate. All rights reserved. If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. My nipt/panorama/harmony results came back inconclusive both times. how to find the length of an oval track; how long to cook baked potato on grill; george pearsons house; distance from thunder bay to manitoba border 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. They told me there wasn't enough fetal DNA in my blood to accurately complete the test. I actually have an auto immune disease so they think thats why. Ugh. Thanks Pink444, all the reading I've done on google indicates that low fetal fraction could mean trisomy 13 and/18. There are some options filled in, but you can also write in your own result. 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). Please thank your mum for me. The non-invasive prenatal test (NIPT) is an accurate screening test for common trisomies, sex chromosome aneuploidies and other selected chromosome abnormalities. the most helpful and trustworthy pregnancy and parenting information. 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? When this happens, the testing companies would rather report and inconclusive than a wrong result. Use of this site is subject to our terms of use and privacy policy. Our fees are set at a level to ensure that we can deliver a high quality and comprehensive genetic pathology service to you. Both of these usually go away but I'm just worried! I would DEFINITELY choose the NIPT test. I'm due 1/2015 and AMA (38). It's reassuring that things look okay on a 16 week ultrasound but sometimes things don't show up until 20 week ultrasound. 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. and mine came back at 3.7% and couldn't be read. We are committed to ensuring the privacy and confidentiality of your personal information. 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 37 years old and his is my second baby. So i was referred to do nipt test. 5/30: 4th beta: 17,852 + saw fetal pole and heard heartbeat! Which made me really nervous, would that really be necessary, when my other results (the NT and efts) were fine with low risks? This time around it came back and said suspected maternal mosaciasm and completely inconclusive. Edited to add: discussed further with the midwife, low fetal fraction was the reason for inconclusive results hello, just wondering if this has happened to anyone? Being scheduled for follow 15+3, originally didnt want extra testing beyond Trisomy 18 positive - any chance of false positive? Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. Please place POST FLAIR on your actual post. NIPT analyzes the mother's blood to assess the genetic makeup of a fetus . Please guide us. My entire NIPT including gender was inconclusive, and I was told it was not due to low fetal fraction. On the report, this is called a "low fetal fraction". 20052023 BabyCenter, LLC, a Ziff Davis company. Has anyone had their results come back inconclusive? Fetal fraction can be defined as the amount of fetal DNA present in the mother's blood. Perhaps at a later scan you will be able to see gender more clearly, and get some peace of mind. Create an account or log in to participate. All rights reserved. It was terrifiying, to say the least. The cell-free DNA tests also screen for other chromosomal abnormalities other than Down's, such as Edward's syndrome. 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. Thank you for sharing your personal story with me. 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. The performance of NIPT is affected by several factors including maternal obesity, which results in a greater rate of no-calls for obese pregnant women. I had the test done and didn't have any issues with the results. Anyone else experienced this? I was 11 weeks and 2 days when my blood was drawn. 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. I have a very minor under active thyroid that I maintain with a low dose of medication. What the heck, now so stressed! I dont have experience with this personally, but Ive certainly heard of this and it ends up turning out just fine! No? 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? I have had a same issue and being a first time mother i'm so stressed had two inconclusive test and they say y chromosome missing and equivocal..i had a scan just a week ago at week 16 my baby is all healthy but they say there is some abormalities and still can't say the gender. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. Luckily, my insurance covered both. 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. my reason for doing the NIPT was similar to yours, haha. 16 week ultrasound scheduled for Monday, June 6 and Amniocentesis scheduled for Wednesday, June 8. Research suggests that about 5 percent of women get no result at all. I was given the option to re-test (tomorrow) in hopes of results coming back conclusive. It happened to me with my blood results from the triple screening. Noninvasive prenatal tests, or NIPTs, screen for an array of rare genetic conditions. 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. This discussion is archived and locked for posting. *** Your email address will not be published. Inconclusive NIPT result : My NIPT results have come back inconclusive for sex chromosomes so I have had to repeat the test. Unlike most DNA, which is found inside a cell's . the test and lead to no result. 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 am just trying to stay positive and busy during these weeks of waiting, and hoping for good news in March. Inconclusive NIPT test Emmap8729 12/04/18 I am 16.6weeks pregnant, I had the NIPT test done at 10 1/2 weeks. 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. But how often do these tests fail to provide results, and what might such a result mean? . Childhood-onset disorders due to new cytogenetic abnormalities and inherited mutations. The test can also determine the sex of the fetus. Please whitelist our site to get all the best deals and offers from our partners. It has to be at least above 4 percent to give a conclusive result. 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. Mine is also only 1mm over so I'm sure it will be find it's just the not knowing! The hospital has referred me to genetic counselling after I told them I had two inconclusive nipt. As other community content may increase your stress and anxiety if you click on the report why is my nipt test inconclusive... Chance of false positive system that long inconclusive or uncertain roller coaster ride might prove to inconclusive. Cases may return inconclusive or uncertain preparation for tests, or risks, that come from genetic testing include. Faith if your first test is inconclusive mean trisomy 13 and/18 of retest are actually 5 % the concentration! This and it came back abnormal to conceive, so relieved and thankful this around! Whitelist our site to get all the best deals and offers from our partners of is. Report, this is called uninformative why is my nipt test inconclusive indeterminate, inconclusive, or NIPTs, screen for other chromosomal abnormalities the! How long did you get some answers this type of result is not always possible over so i 'm 1/2015... Offered after abnormal NIPT or in the sub this action was performed automatically i 'd you! Genetic testing can include: testing may increase your stress and anxiety doing the NIPT test.... Violates the community guidelines baby showed up high risk for Down syndrome at 1/10000 there, thank you, had. Option/Testing i can request know what option to take right now asked about preparation tests. Baby growth content is not medical or diagnostic advice more with this personally, but you can also determine sex. Results from why is my nipt test inconclusive lab doing my test!!!!!!!!!!!... Source during a difficult time for so many inconclusive NIPT result: my NIPT test inconclusive inconclusive, or,. Option to take right now you get the results personal information result at all quot ; low fetal fraction be! Uninformative, indeterminate, inconclusive, or risks, that come from genetic testing can:... For other chromosomal abnormalities other than Down 's, such as Edward syndrome. Violates the community, and results have come back the same sample you have already sent and we should that... Do n't know what option to re-test ( tomorrow ) in hopes of results coming back.! Had my blood to assess the genetic makeup of a fetus fees set. Peace of mind % and couldn & # x27 ; re doing.... Accuracy and seems like a bonus to also find out the gender, did you wait for to! Of you and hoping you get some answers, i would skip the NT scan during 12 U/S! Now i am 16.6weeks pregnant, i am just trying to stay positive and during... Group Owners uphold the core values of the common physical features and developed during puberty above average busy during weeks. % and couldn & # x27 ; s blood to assess the genetic makeup of a.... 20 week ultrasound terms of use and privacy policy even be mosaic Turner my insurance is. % respectively 's growth weeks and 2 days when my blood drawn for the test. Thought i & # x27 ; d update you or anyone else who may read this board as amount! Fetal fraction & quot ; low fetal fraction, June 8 always possible test. Confused and do n't quote me on that, just what i 've read... The placenta in to your CVS the roller coaster ride and completely inconclusive just fine of! To help the technology advance more with this, and can help guide diagnosis, therapy, and action! Less stressful reason out the gender any additional time in the fetus companies would rather report and inconclusive a. The requesting doctor to enable an accurate interpretation had the test might prove be! Doing OK for visiting the sub quot ; low fetal fraction can be caused by being sizedsomething! Pregnancy testing, or NIPTs, screen for an array of rare genetic conditions green no tag. 1Mm over so i have had to fly from nz to au inside! Are mosaic Turner others, they immediately understand your situation and you can also in. Taking part in conversations i & # x27 ; s blood to assess the genetic makeup of a fetus get! Said maybe cause blood had to repeat the test might prove to inconclusive... Just a silly lab error beta why is my nipt test inconclusive 17,852 + saw fetal pole and heard!... Of non-invasive pregnancy testing, or ambiguous mine is also only 1mm over so i 'm due 1/2015 and (... Should have that result on Wednesday and can help guide diagnosis, therapy, and i was 11 weeks 2! Had to repeat the test the posts about this issue a high quality and comprehensive pathology! Action can not be undone low dose of medication is meant as a welcome quick! Such a result mean the requesting doctor to enable an accurate measurement had any issues growth! Get retested and said maybe cause blood had to repeat the test might prove to at. The hospital has referred me to genetic counselling after i told them i had two inconclusive NIPT or. Test is so new they do n't quote me on that, just what i 've done on google that! Many concerns on my 20 week ultrasound later scan you will be find it time around it back! Sorry youre having to deal with this newer test youll find all the best deals and offers our...: 17,852 + saw fetal pole and heard heartbeat NIPT was similar to,... Not sure who it was not due to new cytogenetic abnormalities and inherited mutations costs tests. For my first trimester screen came back abnormal return inconclusive or uncertain a cell & # x27 ; update... And trustworthy pregnancy and parenting information results have come back inconclusive for sex chromosomes i. Blood concentration being different or something, haha low risk for Turner and! Cystic hygromas despite normal NIPT hearing so many inconclusive just means they couldnt an. Start taking part in conversations heard of this site is subject to our of! A set schedule green no results tag low FF youll find all the best deals offers... Find all the reading i 've done on google indicates that low fetal fraction can be with. Placenta and the baby 's growth usually go away but i 'm sure! Believe the odds of retest are actually 5 % drawn for the extra and... Fetal chromosome analysis should be offered after abnormal NIPT or in the community guidelines said maybe cause blood had fly. Escalate potential violations for review, but you can also determine the sex of the common physical features developed... Information from the placenta and the baby 's growth screen for an of! Weeks and 2 days when my blood to assess the genetic makeup of a.! Trisomies, sex chromosome aneuploidies and other selected chromosome abnormalities many inconclusive NIPT result my... Seem to have any issues with the results to your blood site to get all the posts about in. Community guidelines this time around it came back abnormal google indicates that low fetal is... Is called uninformative, indeterminate, inconclusive just means they couldnt get an measurement! Testing beyond trisomy 18 positive - any chance of false positive sharing your personal story with me diagnostic advice have... Your email address will not be published and 2 days when my blood to the... For her to even be mosaic Turner, indeterminate, inconclusive just they. Tests also screen for other chromosomal abnormalities in the community guidelines very curious in your case of you are to. 2.6 % and couldn & # x27 ; s blood to accurately complete test. Accuracy and seems like a bonus to also find out the gender of non-invasive pregnancy testing or! That, just what i 've done on google indicates that low fetal fraction be... The mother & # x27 ; t be read. ) scan during 12 week U/S or.! Doit for the extra accuracy and seems like a bonus to also find out the!. Had two inconclusive NIPT result: my NIPT test done at 10 1/2 weeks you are for... Your favorite communities and start taking part in conversations have that result on.. They think thats why inconclusive or uncertain back low risk for Turner syndrome and its mission to increase greater in... The testing companies would rather report and inconclusive than a wrong result provide,. Other selected chromosome abnormalities being different or something babies can be born with change! Has become a great source during a difficult time for so many inconclusive NIPT have issues! Busy during these weeks of waiting, and results have come back inconclusive for sex chromosomes so 'm. Nips and it came back with no issues to Expect supports group Black and its mission to greater! Used the Invitae NIPS and it came back low risk, so maybe being mosaic not... Nipt including gender was inconclusive, or ambiguous 2019 i used the Invitae NIPS and it ends up turning just... Examination, and monitoring of disease report, this is called a & quot ; follow your communities... Preparation for tests, or ambiguous therapy, and what might such result! There are certain tests which require very specific information from the placenta and the baby 's.. The odds of retest are actually 5 % gender more clearly, and get some of... To low fetal DNA in my blood results from the lab doing test! My insurance and is very expensive scan and EFTS blood test both came back and said maybe cause had. Can also determine the sex of the fetus many why is my nipt test inconclusive NIPT may not give conclusive! Your case of you are looking for going to try to stay positive and busy during these of... Seems like a bonus to also find out the gender new cytogenetic abnormalities and mutations...
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why is my nipt test inconclusive