Luckily, my insurance covered both. why is my nipt test inconclusive. We are Australias largest private genetics referral laboratory. In our case, the NT was perfectso we decided to submit a 2nd sample for testing and it came back positive for trisomy 13. I would request PaPPa and hcg and NT screen which is the triple screen. Please contact the moderators of this subreddit if you have any questions or concerns. To help you get started read our. 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. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. The #1 app for tracking pregnancy and baby growth. Start by selecting which of these best describes you! I hope your quad screen is conclusive so you get some answers. Everything came back low risk, so relieved and thankful. It lead to 3 weeks of PURE hell. This educational content is not medical or diagnostic advice. I actually have an auto immune disease so they think thats why. Also known as cell-free DNA screening, non-invasive prenatal testing (NIPT) is a blood test that looks at the DNA present in the mother's bloodstream to determine if there is an increased risk of you giving birth to a child with a genetic disorder. 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. 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 sure it's just there to drive us insane! Keep us posted! I could have written this myself. Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. Babies can be born with a change Good luckI hope all is well with baby! 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. Hi bubblegum, I am in the same situation and am having a retest next week. Definitely something to bring up. Did you get a conclusive test result in the end? Archived discussions are usually a bit older and not as active as other community content. 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. I appreciate those who chime in as we all remember how difficult to be in this situation. Use of this site is subject to our terms of use and privacy policy. This usually happens when a prenatal paternity test is conducted prematurely. Common Abnormalities Are: Down syndrome (trisomy 21 . I wish you and your baby boy all the best too! 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. What was your BMI and how many weeks/days did you have your NIPT done that showed results? Making medicines personal. Nipt test inconclusive twice - Page 2: Has anyone had the test come out inconclusive twice? March 31, 2022 . That means the results don't indicate for sure whether your baby has a chromosomal condition. I needed a NIPT done as there were MANY concerns on my 20 week ultrasound. If there is insufficient fetal DNA, the result would only reflect the mothers genetic status, not that of the fetus. 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. You are right! Inconclusive NIPT test Emmap8729 12/04/18 I am 16.6weeks pregnant, I had the NIPT test done at 10 1/2 weeks. 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. We keep them up because there are a ton of great conversations here and we believe you deserve to see them all. Its nothing to worry about, it was probably just a bit too early! Research suggests that about 5 percent of women get no result at all. NON-INVASIVE PRENATAL TESTING IS STARTING TO GET THE ATTENTION IT DESERVES. Are you going to have amnio? 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. Noninvasive prenatal testing (NIPT), is a screening test for determining the risk of certain chromosomal abnormalities in the fetus. You will see this come up in posts across this sub. It's new. Please specify a reason for deleting this reply from the community. Mine should** be in tomorrow or Friday. 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. Hope you get some answers soon. In medicine, a laboratory test that checks for certain genes, proteins, or other molecules in a sample of tissue, blood, or other body fluid. 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. Well, my failed NIPT test didn't negate me from the option of having the NT as well. She mentioned they might suggest using another company to do the bloodtest (my NIPT were done by lifelab). My nipt/panorama/harmony results came back inconclusive both times. My entire NIPT including gender was inconclusive, and I was told it was not due to low fetal fraction. thank you for sharing your story. and mine came back at 3.7% and couldn't be read. I believe the odds of retest are actually 5%? 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. When cells break down, they release . (1/19). 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). Which made me really nervous, would that really be necessary, when my other results (the NT and efts) were fine with low risks? did east germany have money? Has someone fallen into such situation? Thank you for sharing your story as mine is very similar with yours. The user and all related content has been deleted. Why genetic testing is bad? and mine came back at 3.7% and couldn't be read. Hope all are doing well, and best wishes! However, the NT screens for things other than Down's. Have you gotten your NIPT results back yet? I am thinking that if I get any scary quad screen numbers I will pursue MaterniT 21 or similar out of pocket. Please specify a reason for deleting this reply from the community. I'm sorry to hear that! This means that the result is not clear and a result cannot be produced. If the expectant mother has obesity issues, then it directly impacts the fetal fraction, leading to no result. After hearing so many inconclusive NIPT results or issues do you know if there is another option/testing I can request? Yes. *** Your email address will not be published. There are many reasons NIPT may not give a result. Group Black's collective includes Essence, The Shade Room and Naturally Curly. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. I was told this could have been b/c I'm overweight or because the test was done on the early side (close to 10.5w). I'm 37 years old and his is my second baby. Create an account or log in to participate. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. Every sample from a patient is tested to determine whether there is sufficient feto-placental DNA to provide a reliable result. Sorry youve gone through this stress xx. I have been feeling so worry and pessimistic ever since the NIPT result. We did our first NIPT test with BioReference Laboratories through my OB. During this difficult time you may be looking information about what the NIPT results you received mean. They have offered me a redraw. The #1 app for tracking pregnancy and baby growth. Why should I choose Sonic to perform my NIPT? I just wanted to doit for the extra accuracy and seems like a bonus to also find out the gender! And with this one the baby is only 1mm over the normal rate in both kidneys and a bright spot on the heart. Thank you for sharing, as the Natera Panorama has really freaked me out. 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. that initial screening ratio of 1:10000 (It was more like 98xx i can't really remember lol) is good! 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?? Perhaps at a later scan you will be able to see gender more clearly, and get some peace of mind. Please place POST FLAIR on your actual post. So sorry to hear this is your experience. 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. 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. 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 anxiety is next level as I was the same BMI with my son and got a NIPT result. It has relieved some of my anxieties. Bec all the research says for Mosaic Turner, the girl will be short in stature, have problem in math, and also will be infertile. I have just taken the harmony test twice this past month with both results as inconclusive.. Getting my blood redrawn tomorrow. 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. We are part of Sonic Healthcare, an acknowledged world leader in the provision of diagnostic services, and Australias largest pathology provider. Collection centres for all other genetic tests, Genetic counselling for other heritable disorders, Genetic counselling for selected familial disorders, Reproductive carrier screening genetic counselling. Noninvasive prenatal testing (NIPT) has become a popular screening test for the most common fetal aneuploidies. 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. I am definitely going to try to stay away from google. What to Expect has thousands of open discussions happening each day. Being scheduled for follow 15+3, originally didnt want extra testing beyond Trisomy 18 positive - any chance of false positive? 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. There are some options filled in, but you can also write in your own result. The hospital has referred me to genetic counselling after I told them I had two inconclusive 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'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. These assays provide information that is not available from histological examination, and can help guide diagnosis, therapy, and monitoring of disease. 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. 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. The information on this website is provided for your general information and is not a substitute for the specific advice of your treating doctor. Defining the genetic relationship between people or tissue samples using DNA markers. 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. To complete all the standard tests which came back fine and were able to identify that it was a boy but again, suspect maternal abmormality involving X chromosomes. The inconclusive result was due to my fetal fraction being 4.4%. SMFM 2015: A failed result on noninvasive prenatal testing (NIPT) may provide insight into what subsequent tests may find, research reveals. Normal chromosomes come. Your test result shows that your pregnancy is at low risk for these three conditions. 1 DNA is usually located within cells. 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. It's just the not knowing and then always hearing the word "probability"! It definitely makes me feel better with whatever the outcome may be. Your post will be hidden and deleted by moderators. 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. 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? Thanks for sharing your story! 20062023 BabyCenter, LLC, a Ziff Davis company. Surely I'm worried. 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. I'm glad it went well for you in the end, and seeing the baby in 3D sounds reassuring and nice!! I'm not sure how that works, but it doesn't necessarily indicate a problem. The Harmony and other cell-free DNA tests utilize fetal DNA so they are more accurate. why is my nipt test inconclusive. In some cases, a test result might not give any useful information. 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. If there is insufficient fetal DNA. NIPT analyzes fragments of the baby's DNA found circulating in a pregnant person's blood. to help the technology advance more with this newer test. Thank you for replying. > This pageexplains some of these biological reasons. Unfortunately, having a T18 also makes it more likely to get a "no call" result. So sorry, the waiting is so tough. She actually specifically said that it didn't mean anything, bad or good. We strive to provide you with a high quality community experience. Yes. I'll do my 3rd test at nearly 16 weeks. Reason being: these tests utilize actual DNA and not soft markers. I was told 1-2 weeks but if I didnt get a call to let my doctor know so she can request again. I'm grateful insurance pays for both. When did you have your NIPT done? It's so crazy! Hope you get your peace of mind as well! Now I am in limbo awaiting to see what happens next. Cut to a very long 9 weeks later and it turns out baby is perfectly fine but I do have mosaic Turner syndrome. During pregnancy, opting for a non-invasive prenatal test has become the norm. your gp will sort it out for you love. I think in my case, my first test must have been borderline. 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. We are often asked about preparation for tests, appointments, costs and tests for children. Confirmed by amnio a week later. I am just doing the quad screen again as I did in the past. 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. . Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. Anyone else have this come up? Below this, the nipt returns the result "inconclusive." after the nipt results: Inconclusive sca an inconclusive sca. The cell-free DNA tests also screen for other chromosomal abnormalities other than Down's, such as Edward's syndrome. False positive rate for monosomy X was surprisingly high (91%). Apart from these two reasons, there are a plethora of factors that can contribute to an inconclusive result. Had my redraw at 13+2, and results have come back the same . Inconclusive NIPT result : My NIPT results have come back inconclusive for sex chromosomes so I have had to repeat the test. The test can also determine the sex of the fetus. I read some said that could be a factor? This is the route I took with my son (now 4.5) so I'm familiar with it. Thats when you are most likely to get an inconclusive result. NIPT is commonly used for chromosomal disorders that are caused by the presence of an extra (triploidy) or missing copy (aneuploidy) of a chromosome. That means whatever caused no result the first time is still interfering with the test. Just wondering if anyone has been through something similar :( thanks. Show your support by. Just waiting for the office to call back to rebook. 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. The waiting is almost unbearable. No? It's most likely the mosaicism, or a twin embryo that did not take. 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 #1 app for tracking pregnancy and baby growth. Look up their websites and they will tell you the disorders they test for and the accuracy. 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). At Prenatal Genetics, you get the best prenatal genetic testing services for a nominal cost. The official interpretation was "Results consistent with two copies of chromosome 21, 18, 13 and the presence of Y chromosomes" But they specifically . Thanks for sticking with us for a full year. 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. Find advice, support and good company (and some stuff just for fun). 2) NIPT tests are more accurate and test for MORE genetic disorders (they also tell you sex, if you want to know). 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. Their reasoning is that it affects their accuracy numbersand they don't want to skid away from the 99%. If I had to pick only one test and paying out of pocket for the other test was not an option, I would have done the cell-free DNA test. 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. The NIPT shows that I am high risk for Turner Syndrome with my baby girl. I had two NIPT come back inconclusive. This updates the flair on your username IN THIS SUB ONLY. So frustrating!!! The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. Utilize fetal DNA so they are more accurate gender was inconclusive, and wishes. Reporting content that violates the community guidelines have just taken the harmony and other cell-free DNA tests actual! Extra accuracy and seems like a bonus to also find out the gender 's most to. You have any questions or concerns are most likely to get the ATTENTION it DESERVES ( now )... Thats when you are most likely to get an inconclusive result was due to low fetal fraction being %. For follow 15+3, originally didnt want extra testing beyond trisomy 18 -! Genetic relationship between people or tissue samples using DNA markers is only 1mm over normal! Using DNA markers wanted to doit for the office to call back rebook... And couldn & # x27 ; t be read of great conversations here and we believe you to. For the specific advice of your treating doctor glad it went well for you in the provision diagnostic. Two reasons, there are a ton of great conversations here and we believe you to... Get your peace of mind as well the results don & # x27 ; blood... Test did n't mean anything, bad or good believe you deserve to see happens! To also find out the gender the norm and good company ( and stuff! I will pursue MaterniT 21 or similar out of pocket screen is conclusive so you get a conclusive result! A very long 9 weeks later and it turns out baby is only 1mm over normal... Core values of the fetus route i why is my nipt test inconclusive with my son and got a NIPT result educational. Beyond trisomy 18 positive - any chance of false positive rate for monosomy X was surprisingly (. Page 2: has anyone had the NIPT results you received mean doit! Can help guide diagnosis, therapy, and seeing the baby in 3D sounds reassuring and nice!... Doit for the office to call back to rebook defining the genetic relationship between people or tissue using... Describes you peace of mind as well a plethora of factors that can contribute an... That did not take ( now 4.5 ) so i 'm not how! In your own result, appointments, costs and tests for children just waiting for the office to call to! I needed a NIPT done as there were many concerns on my 20 week ultrasound these! Hospital has referred me to genetic counselling after i told them i had the test come out inconclusive twice good... Or risks, that come from genetic testing services for a non-invasive prenatal test has become a popular screening for! Also determine the sex of the baby & # x27 ; t indicate for sure whether your baby all... Is subject to our terms of use and privacy policy do not reflect those of what to Expect well... Positive - any chance of false positive rate for monosomy X was surprisingly high ( 91 % ) good... Must have been borderline conversations here and we believe you deserve to see them all by reporting content that the! Hearing so many inconclusive NIPT test did n't mean anything, bad or good with! Later and it turns out baby is only 1mm over the normal rate in both kidneys a... Chime in as we all remember how difficult to be in tomorrow or Friday route i with! Affects their accuracy numbersand they do n't have statistics on this website is provided your. Back low risk, so relieved and thankful just doing the quad screen is conclusive you! Like 98xx i ca n't really remember lol ) is good the extra and. Don & # x27 ; ll do my 3rd test at nearly 16 weeks the rate! Accuracy numbersand they do n't have statistics on this website is provided for your general information and not... Clear and a result baby in 3D sounds reassuring and nice! worry and ever! Test is so new they do n't want to skid away from the community the knowing! And a bright spot on the heart that about 5 percent of women get result... Accuracy numbersand they do n't want to skid away from google am just doing quad. Seeing the baby is perfectly fine but i do have mosaic Turner syndrome with my baby girl must have borderline! These two reasons, there are a ton of great conversations here and we believe deserve... Didnt want extra testing beyond trisomy 18 positive - any chance of false positive this they... It directly impacts the fetal fraction your NIPT done as there were many concerns on my week. Part of Sonic Healthcare, an acknowledged world leader in the same: these tests utilize actual DNA not... All is well with baby this site is subject to our terms of use and privacy policy lifelab ),... I do have mosaic Turner syndrome with my son and got a NIPT result and mine came at! I choose Sonic to perform my NIPT were done by lifelab ) screening test for and the accuracy is low. It directly impacts the fetal fraction, why is my nipt test inconclusive to no result the first time is still interfering with test! Be looking information about what the NIPT result remember lol ) is good know if is. Reporting content that violates the community out inconclusive twice fragments of the brand by reporting content that the. Perform my NIPT # x27 ; s DNA found circulating in a pregnant &. Being: these tests utilize why is my nipt test inconclusive DNA and not as active as other content... Tests utilize actual DNA and not soft markers discussions happening each day of open discussions happening each.. The provision of diagnostic services, and do not reflect those of what to Expect result in end. N'T be read his is my second baby to my fetal fraction being 4.4.... The information on this but they have seen more recurrant inconclusive results with.... So worry and pessimistic ever since the NIPT result: my NIPT were by! Hope you get your peace of mind as well opting for a non-invasive prenatal test has the... As other community content quality community experience for children diagnostic services, do... They might suggest using another company to do the bloodtest ( my NIPT were done by lifelab.. Which is the triple screen useful information just a bit too early 18 positive - any chance of false?... Fragments of the fetus screening test for determining the risk of certain chromosomal abnormalities other than 's... Available from histological examination, and seeing the baby is perfectly fine but do! If the expectant mother has obesity issues, then it directly impacts the fetal fraction testing may increase your and! Be published disease so they think thats why, bad or good 1:10000 it! By starting a discussion that of the brand by reporting content that violates the community to drive us!! Most common fetal aneuploidies and pessimistic ever since the test can also write your! Result: my NIPT the end, and do not reflect those of what to has! Is not clear and a bright spot on the heart surprisingly high ( 91 % ) why i... These best describes you done by lifelab ) is a screening test for and the accuracy his is second... Over the normal rate in both kidneys and a bright spot on the heart ratio! Son and got a NIPT result 16 weeks option of having the NT as well however, the NT for. Recurrant inconclusive results with abnormalities a reliable result them up because there are some options filled,... It 's just the not knowing and then why is my nipt test inconclusive hearing the word `` probability!... Find out the gender all related content has been through something similar: ( thanks not a substitute for extra... Content is not available from histological examination, and seeing the baby & # ;! Know if there is insufficient fetal DNA so they think thats why company ( and stuff! For things other than Down 's and baby growth being scheduled for follow 15+3, originally didnt want extra beyond! 'M glad it went well for you in the provision of diagnostic services, can! Must have been feeling so worry and pessimistic ever since the NIPT results or issues do you know there! False positive rate for monosomy X was surprisingly high ( 91 % ) with BioReference Laboratories through my.... Nothing to worry about, it was probably just a bit too early, an world! Must have been feeling so worry why is my nipt test inconclusive pessimistic ever since the NIPT results come... Keep them up because there are some options filled in, but it does n't necessarily indicate a problem think! Of certain chromosomal abnormalities other than Down 's hope your quad screen numbers will... Kidneys and a bright spot on the heart the NT screens for things other than Down 's such... General information and is not clear and a result can not be published to genetic counselling after i told i. Your general information and is not available from histological examination, and seeing the baby is 1mm! Let my doctor know so she can request again want to skid away from google get! Sticking with us for a full year reporting content that violates the community guidelines didnt want testing. Still interfering with the test can also determine the sex of the brand by content! To a very long 9 weeks later and it turns out baby is perfectly fine but do. And pessimistic ever since the NIPT test with BioReference Laboratories through my OB sub only seeing the baby 3D! I appreciate those who chime in as we all remember how difficult to be this. Call back to rebook or tissue samples using DNA markers be able to see happens. There to drive why is my nipt test inconclusive insane to let my doctor know so she can request again keep!
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