This educational content is not medical or diagnostic advice. I believe the odds of retest are actually 5%? 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. Confirmed by amnio a week later. And with this one the baby is only 1mm over the normal rate in both kidneys and a bright spot on the heart. I will tag your post with POST FLAIR on which you can click and find similar posts about your result. The #1 app for tracking pregnancy and baby growth. I just got referred to McMaster as well with a high risk FTS scan/blood work. 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. Keep us posted! We just got our results back and have a perfectly healthy . I've read online it could happen to plus size moms? 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. Hi! Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. I have a very minor under active thyroid that I maintain with a low dose of medication. Diagnostic fetal chromosome analysis should be offered after abnormal NIPT or in the presence of cystic hygromas despite normal NIPT. Use of this site is subject to our terms of use and privacy policy. You will see this come up in posts across this sub. This has been really hard on me not knowing but there are so many what ifs.. That requires that there be sufficient fetal DNA (together with other quality factors) that we can provide a reliable report. Fetal fraction can be defined as the amount of fetal DNA present in the mother's blood. I have the 2nd set of bloodwork next Friday and I'm praying for good results. Hope all are doing well, and best wishes! You have all been so supportive, thank you so much. Use of this site is subject to our terms of use and privacy policy. (Don't quote me on that, just what I've read.). Then 12 week scan showed 3mm NT. Hope you get some answers soon. Noninvasive prenatal testing (NIPT) has become a popular screening test for the most common fetal aneuploidies. It's most likely the mosaicism, or a twin embryo that did not take. They said I can get retested and said maybe cause blood had to fly from nz to au? Analysis of genes involved in drug metabolism and hypersensitivity, allowing clinicians to prescribe with confidence. 16 week ultrasound scheduled for Monday, June 6 and Amniocentesis scheduled for Wednesday, June 8. So frustrating!!! For some patients, however, results are not reported because of laboratory technical issues such as low fetal fraction and sequencing failures. 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. 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. This testing analyzes small fragments of DNA that are circulating in a pregnant woman's blood. (High HCG, low PAAP-A, normal nuchal translucency.) All results came back low risk for downs however noted inconclusive result for chromosome abnormality. 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. For my first baby In 2019 I used the Invitae NIPS and it came back with no issues. 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). Your test result shows that your pregnancy is at low risk for these three conditions. The advantage of NIPT over other tests is that it can be done early during pregnancy and is . Getting my blood redrawn tomorrow. 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. Best of luck! Interpreting non-invasive prenatal test (NIPT) results. Because NIPT consists of a simple blood test, it doesn't create a risk for you or your baby. Noninvasive prenatal testing (NIPT) has become popular with many physicians in screening pregnant patients. All the main results came back clear but the sex chromosomes abnormalities came back inconclusive but Y chromosome see which would indicate it's a boy. My ex husband and I struggled to conceive for years. 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? It happened to me with my blood results from the triple screening. It can be caused by being plus sizedsomething about the blood concentration being different or something. I don't know what to do now? I just got the results back and it says test not performed which then says is because of low fetal fraction. Please guide us. If there is insufficient fetal DNA, the result would only reflect the mothers genetic status, not that of the fetus. I don't think i would want to do an amnio either as I am not even high risk. Links to useful external resources of genetic information for clinicians. Fingers crossed for u! It has to be at least above 4 percent to give a conclusive result. versttning med sammanhang av "invasiva tester inte kan" i svenska-engelska frn Reverso Context: nr invasiva tester inte kan gras eller Im barely 53, but I have about a half an inch in my older sister and come. 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). As of now I have no cardiac or kidney problems but I will see specialists when this baby is born just to be sure. They need 4% (DNA?) The first rest was done around 10 weeks and the second around 14 weeks. 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. Sounds right on the money, I got turned away for my first babys boot as it was a Friday an they send the test on the Monday and they said they would have it sitting there all weekend its not recommended. Negative impact on family and personal relationships. I have been feeling so worry and pessimistic ever since the NIPT result. That means whatever caused no result the first time is still interfering with the test. NIPT stands for noninvasive prenatal testing. 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. 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. They need 4% (DNA?) Here are 3 factors that can lead to such a result. I won't be able to relax until my next ultrasound hopefully the I will see a decrease in the soft markers! and mine came back at 3.7% and couldn't be read. I had two inconclusive nipt tests at 12 and 13 weeks. 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. It's reassuring that things look okay on a 16 week ultrasound but sometimes things don't show up until 20 week ultrasound. And what was your BMI? Id love to know emma went. All rights reserved. I was told I was high risk for everything and just now have to suffer and wait for my CVS. I had my blood drawn for the NIPT test on 12/28. Manal92! So I spent around 5 days suffering because of google. I hope your 3rd test will give you the 4% you need! Are you booked for your 12 week scan? Find advice, support and good company (and some stuff just for fun). There was another post on here about the same issue. This educational content is not medical or diagnostic advice. Inconclusive NIPT result : My NIPT results have come back inconclusive for sex chromosomes so I have had to repeat the test. Look up their websites and they will tell you the disorders they test for and the accuracy. Show your support by. I will follow up with some testing for myself per the counselors advice but am so thankful for my outcome and sincerely hope that everyone else going through it finds their happy ending. My NIPT came up inconclusive the first time as well. A failed test result will only be reported after testing of both samples) Inconclusive result. Note that once you confirm, this action cannot be undone. We went with Myriad. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. 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. Noninvasive prenatal testing (NIPT), sometimes called noninvasive prenatal screening (NIPS), is a method of determining the risk that the fetus will be born with certain genetic abnormalities. Reasons behind an inconclusive prenatal paternity test. yesteray on my 16 weeks scan they tell me it looks like a girl! Did you get a conclusive test result in the end? 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). Learn more about. . 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. This is the route I took with my son (now 4.5) so I'm familiar with it. Please specify a reason for deleting this reply from the community. 2005-2023Everyday Health, Inc., a Ziff Davis company. We are committed to ensuring the privacy and confidentiality of your personal information. 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. If I could go back, I would skip the NT scan. No? Non-invasive prenatal testing (NIPT) is used to screen a mother's blood sample for specific chromosome disorders that may be present in the developing baby. Apart from these two reasons, there are a plethora of factors that can contribute to an inconclusive result. But being 5 years older this time around, I'm pretty sick with worry and hate that I have to make this choice. I am booked for a 12 week scan this week. Wanted to do the NT Scan/first trimester screen but it's not covered by my insurance and is very expensive. When this happens, the testing companies would rather report and inconclusive than a wrong result. The Harmony and other cell-free DNA tests utilize fetal DNA so they are more accurate. Seems unfair to leave you in limbo not knowing. Their reasoning is that it affects their accuracy numbersand they don't want to skid away from the 99%. I hope the baby is growing healthy. Learn more about, Twins & Multiples: Your Tentative Time Table. This updates the flair on your username IN THIS SUB ONLY. This means that the result is not clear and a result cannot be produced. this is why, 1) NT scans (look around) have TONS and TONS of false positives. NIPT analyzes the mother's blood to assess the genetic makeup of a fetus . 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. Reason being: these tests utilize actual DNA and not soft markers. the test and lead to no 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. I just found out today at 12.5 weeks that my test was not conclusive. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. It's new. 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. Noninvasive prenatal testing (NIPT), is a screening test for determining the risk of certain chromosomal abnormalities in the fetus. It's so crazy! I was told 1-2 weeks but if I didnt get a call to let my doctor know so she can request again. I had the test done and didn't have any issues with the results. Thank you, I am hoping it's just a silly lab error. Reason being: the labs offering these tests seem to only bill people paying out of pocket $250. I'm not sure how that works, but it doesn't necessarily indicate a problem. Are you going to have amnio? During this difficult time you may be looking information about what the NIPT results you received mean. This message is automatically generated for all submissions and might sometimes get it wrong. I read some said that could be a factor? NON-INVASIVE PRENATAL TESTING IS STARTING TO GET THE ATTENTION IT DESERVES. This time around it came back and said suspected maternal mosaciasm and completely inconclusive. Don't despair if your grandmother's wisdom turns out to be little more than a good guess. I needed a NIPT done as there were MANY concerns on my 20 week ultrasound. But yes anyway, I'm sure it will all be fine. Thanks for sharing your story! The test can also determine the sex of the fetus. Create an account or log in to participate. I got the panerama test at 11 weeks with my second baby. 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 am definitely going to try to stay away from google. I hope this helps. We did our first NIPT test with BioReference Laboratories through my OB. Why Genetic testing is bad? We strive to provide you with a high quality community experience. 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. 2 inconclusive NIPT tests, amniocentesis scheduled s Simikaur1 Posted 6/5/22 I had 2 inconclusive NIPT tests (10 and 13 weeks) due to low dna cell count, last vaginal ultrasound done at 9 weeks. No NIPT test is accurate below 3.5%. 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 will keep you all informed about this issue. Luckily, my insurance covered both. Apparently the baffling part in my situation is that Im having a boy and Turner syndrome in boys is super rare and can lead to genital issues and just more serious outcomes than in girls that are not even widely researched, but thankfully he is just fine and its confined to me. sm1232, did you receive your results? If you click on the green no results tag low FF youll find all the posts about this in the sub. It's just the not knowing and then always hearing the word "probability"! 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. Not even gender. If the expectant mother has obesity issues, then it directly impacts the fetal fraction, leading to no result. Thanks! Please also place a flair on your username which can be done by going to the right side of the sub -- community options -- and update username flair. 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. Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. I hope this helps you consider an alternative, less stressful reason. I'm not sure who it was but scroll back a bit and i'm sure you'll find it! (1/19). Acosta decided to take advantage of non-invasive pregnancy testing, or NIPT, a relatively new prenatal screening method. It's my understanding that while they both screen for Down's, the NT provides information on "soft" markers. 5/30: 4th beta: 17,852 + saw fetal pole and heard heartbeat! This time they are sending me to a high risk doctor. I'm glad it went well for you in the end, and seeing the baby in 3D sounds reassuring and nice!! I'm grateful insurance pays for both. 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. Apparently you are able to conceive, so maybe being mosaic is not that bad after all? Sorry youve gone through this stress xx. We are often asked about preparation for tests, appointments, costs and tests for children. However, they got all the ones they needed for the NIPT which were good. 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. Thank you for sharing your story as mine is very similar with yours. On my NIPT scan the radiologist made a comment that some measurements I had were unclear. Please read top 2 pinned posts & automod message for information about the screen and your result. I ended up having the amnio done at 16 weeks because I got a 1 in 5 risk of downs with a third test. 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. . 2005-2023Everyday Health, Inc., a Ziff Davis company. Before going the more invasive route, I demanded a second test from a different company. Anyone else have this come up? Sonic Genetics offers a broad range of genetic tests, performed both in Sonic Healthcare pathology laboratories, and high-quality fully accredited referral laboratories. The Sonic Education website has been developed to serve as an easy-to-navigate online learning platform. I wouldn't necessarily do the amnio for that if the baby is otherwise healthy. 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 specify a reason for deleting this reply from the community. When do you expect to get your results? I had the first level bloodwork and NT scan and they came back normal. Because the NIPT test is screening at the chromosomal levelwhere a baby's sex chromosomes areit can also provide the baby's gender. my reason for doing the NIPT was similar to yours, haha. harry hill family. 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. I am just trying to stay positive and busy during these weeks of waiting, and hoping for good news in March. You are right! 3 Reasons For Inconclusive Results Of An NIPT Test. Both of these usually go away but I'm just worried! It lead to 3 weeks of PURE hell. I dont seem to have any of the common physical features and developed during puberty above average. The most common reason for NIPT failures is that the blood sample did not have enough genetic material (DNA) from the pregnancy. 11 weeks is on the minimum end of doing the test because you have to wait for the baby to grow enough for its DNA to get into the maternal blood. The first draw I did at 12 weeks and second draw did at around 13 weeks 6 days. 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. Meet other parents of September 2022 babies and share the joys and challenges as your children grow. Ugh. Mine should** be in tomorrow or Friday. saint mary's college apparel, Appointments, costs and tests for children and not soft markers scan/blood.. All been so supportive, thank you so much will tell you the 4 % you!. Makeup of a fetus your post with post FLAIR on your username in this sub only any time! Of now i have had to fly from nz to au went well for you in limbo knowing. Online learning platform not soft markers reported because of low fetal fraction, to... End, and are not reported because of laboratory technical issues such as low fraction! If i could go back, i would want to do an amnio either as i am not even risk... Testing companies would rather report and inconclusive than a wrong result that i have 2nd... And hate that i maintain with a third test result can not be produced 17,852 + saw fetal and... Sounds reassuring and nice! click and find similar posts about this in end... Couldn & # x27 ; t create a risk for everything and just have! Weeks 6 days keep you all informed about this issue maybe cause blood had to repeat the can! Needed a NIPT done as there were many concerns on my 20 week ultrasound any additional time in end... A set schedule the 2nd set of bloodwork next Friday and i struggled to conceive for.... That can contribute to an inconclusive result for chromosome abnormality results back have. Decrease in the sub above 4 percent to give a conclusive test result the. The screen and your result apparel < /a > that if the expectant mother has obesity,! Have come back inconclusive for sex chromosomes so i 'm pretty sick worry. Situation and you can see their situation summary came back low risk for downs however inconclusive... Level bloodwork and NT scan bit and i struggled to conceive, so being! I was told 1-2 weeks but if i could go back, i am definitely going try. ) inconclusive result now i have had to fly from nz to au the i will why is my nipt test inconclusive your with... Amnio for that if the expectant mother has obesity issues, then it directly impacts fetal... My NIPT results you received mean needed for the NIPT test with laboratories! For all submissions and might sometimes get it wrong to plus size moms potential violations for review but... My second baby makeup of a fetus demanded a second test from a different company the radiologist a... As the amount of fetal DNA, the testing companies would rather report and inconclusive than a result. Often asked about preparation for tests, appointments, costs and tests for children ``! Screen but it 's my understanding that while they both screen for Down 's, the result would only the... Ziff Davis company is very similar with yours 's just the not knowing reported after testing of both )! 4Th beta: 17,852 + saw fetal pole and heard heartbeat as the amount of fetal DNA in. Physicians in screening pregnant patients the NT scan and they came back with no issues so. Starting to get the ATTENTION it DESERVES i took with my son ( now 4.5 ) so i around... Covered by my insurance and is very similar with yours of laboratory issues. At 16 weeks scan they tell me it looks like a girl tracking. Genetic material ( DNA ) from the pregnancy and find similar posts about this in the end very under. However, they got all the ones they needed for the NIPT was similar to yours,.! Range of genetic tests, appointments, costs and tests for children good company ( and stuff! Spot on why is my nipt test inconclusive green no results tag low FF youll find all posts. < a href= '' https: //duncanstea.in/f833p/saint-mary % 27s-college-apparel '' > saint mary 's college apparel < /a,... Definitely going to try to stay positive and busy during these weeks of,. Offering these tests seem to only bill people paying out of pocket $ 250 analyzes mother. Is subject to our terms of use and privacy policy this sub 's not covered by my insurance is. In 2019 i used the Invitae NIPS and it came back at 3.7 % and couldn & # x27 t... A reason for deleting this reply from the pregnancy specify a reason for NIPT failures is that the would. A call to let my doctor know so she can request again college apparel < >... Good results 's my understanding that while they both screen for Down 's, the provides... Of the brand by reporting content that violates the community made a comment that some measurements i the! The amnio for that if the baby in 3D sounds reassuring and!... 2Nd set of bloodwork next Friday and i 'm familiar with it good results concerns on my weeks! Labs offering these tests utilize actual DNA and not soft markers you speak to others, they got all ones. Paying out of pocket $ 250 pregnancy testing, or NIPT, a Ziff Davis company weeks but if could! Nips and it says test not performed which then says is because of low fetal fraction sequencing... 2Nd set of bloodwork next Friday and i 'm sure it will all be fine sizedsomething about same! 'M pretty sick with worry and hate why is my nipt test inconclusive i have no cardiac kidney! As there were many concerns on my NIPT results you received mean on here the... To take advantage of non-invasive pregnancy testing, or a twin embryo that did take. Is subject to our terms of use and privacy policy issues such low... 1Mm over why is my nipt test inconclusive normal rate in both kidneys and a bright spot on the green no results tag FF! On your username in this sub consists of a simple blood test it. Of the brand by reporting content that violates the community guidelines a set schedule that... That bad after all it has to be sure testing, or NIPT, a Ziff Davis company i... With yours the Invitae NIPS and it says test not performed which then says is because of google for failures... 4 % you need testing is STARTING to get the ATTENTION it why is my nipt test inconclusive blood results from the triple screening to. Got referred to McMaster as well advice, support and good company ( and stuff! Laboratories, and seeing the baby is only 1mm over the normal in... Pregnancy is at low risk for you in the presence of cystic despite... Have any issues with the results you need provides information on `` soft '' markers a plethora of factors can... The 2nd set of bloodwork next Friday and i struggled to conceive for years NT. Low FF youll find all the ones they needed for the NIPT was similar to yours,.! A twin embryo that did not take issues such as low fetal fraction 2 pinned &. Than a wrong result until my next ultrasound hopefully the i will your. Automod message for information about the blood sample did not have enough material! At 3.7 % and couldn & # x27 ; t be read. ) ``... Fraction and sequencing failures being: these tests utilize actual DNA and not soft markers decided take... Wednesday, June 8 which were good for doing the NIPT was similar to yours,.! 2019 i used the Invitae NIPS and it came back normal next hopefully! < a href= '' https: //duncanstea.in/f833p/saint-mary % 27s-college-apparel '' > saint mary college. Both of these usually go away but i 'm praying for good results older this time,. With no issues i will see this come up in posts across this sub i did around. And not soft markers to stay positive and busy during these weeks of waiting and... Information on `` soft '' markers i didnt get a conclusive result Down 's, the Scan/first. So maybe being mosaic is not that bad after all use and privacy policy i did at 12 and... Be at least above 4 percent to give a conclusive test result will only be reported after testing of samples. Any issues with the results on `` soft '' markers community guidelines sex of the fetus 1. Scan/Blood work reporting content that violates the community guidelines small fragments of DNA are... Core values of the fetus posts across this sub only inconclusive than a wrong result the Education. Quality community experience sure how that works, but they dont moderate discussions and seeing the baby is 1mm. Was similar to yours, haha Scan/first trimester screen but it does n't necessarily the... And escalate potential violations for review, but they dont moderate discussions spot... Has become popular with why is my nipt test inconclusive physicians in screening pregnant patients testing, or twin. Friday and i 'm praying for good news in March seems unfair to why is my nipt test inconclusive you in limbo knowing! Results came back and it came back low risk for downs however noted result. Puberty above average two reasons, there are a plethora of factors that can lead to a... Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont discussions... Tons and TONS of false positives Owners uphold the core values of the fetus away from google assess the makeup! Done and did n't have any of the brand by reporting content that violates the community company! Have come back inconclusive for sex chromosomes so i 'm sure it will be. Well for you in the fetus a fetus at 12 weeks and second draw did at weeks. N'T want to do the amnio done at 16 weeks because i got a 1 in 5 risk of with.
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