Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. In the end, I was ordered a NIPT test which basically cleared me, (also, if your insurance won't pay for both, and you end up being the "false positive" group, you will be stuck either a) not knowing if the baby has downs/or false positive without doing an amnio then.or waiting for much more testing as your pregnancy progresses). thank you for sharing your story. She should hopefully have a happy healthy baby now.. Hi guys, currently in the same boat. I am booked for a 12 week scan this week. The user and all related content has been deleted. did east germany have money? Please whitelist our site to get all the best deals and offers from our partners. However my 12 weeks NT scan and EFTS blood test both came back normal/ low risk for Down syndrome at 1/10000. 1 DNA is usually located within cells. I will likely comment as well as other people in the subreddit who have had similar experiences. ! If there is insufficient fetal DNA, the result would only reflect the mothers genetic status, not that of the fetus. I've read online it could happen to plus size moms? That means whatever caused no result the first time is still interfering with the test. Edited to add: discussed further with the midwife, low fetal fraction was the reason for inconclusive results When a medical test is performed in a patient for a particular purpose, it is possible that the test will identify an unexpected abnormality that is not related to the initial reason for doing the test. Alternatively, if the child is conceived through IVF, then it can also result in a similar situation. Its 100% accurate (I believe). I have been feeling so worry and pessimistic ever since the NIPT result. However, the NT screens for things other than Down's. The second test was done at 11 weeks. 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. Ugh. Ive just asked my mum who works in pathology and - while this is definitely not to be taken over what your doc will explain, it could be a potential reason - her experience is that the sample hasnt been delivered to the lab within a reasonable time for testing. If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. All rights reserved. So doesnt seem like Im low risk but My obgyn wants to refer me to see a geneticist to discuss possible next steps. I am definitely going to try to stay away from google. Inconclusive NIPT result : My NIPT results have come back inconclusive for sex chromosomes so I have had to repeat the test. 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. 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. I could have written this myself. One such factor is high maternal weight. I'm sorry to hear that! Sources from your great-grandmother to the internet offer tales about how you tell the sex of your baby. I just wanted to doit for the extra accuracy and seems like a bonus to also find out the gender! Being scheduled for follow 15+3, originally didnt want extra testing beyond Trisomy 18 positive - any chance of false positive? 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. I hope your quad screen is conclusive so you get some answers. Stay off Google, oh my gosh, stay off Google! Results in some cases may return inconclusive or uncertain. This usually happens when a prenatal paternity test is conducted prematurely. It lead to 3 weeks of PURE hell. juliolovesme 2 yr. ago I'm so sorry to hear that! 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. Anyone else have this come up? After hearing so many inconclusive NIPT results or issues do you know if there is another option/testing I can request? this is why, 1) NT scans (look around) have TONS and TONS of false positives. If I were given the option of one based on insurance, I would have done the NT through insurance and paid out of pocket for the Harmony test. 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. Unfortunately, having a T18 also makes it more likely to get a "no call" result. I'm grateful insurance pays for both. If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. 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. Just thought I'd update you or anyone else who may read this board. She mentioned they might suggest using another company to do the bloodtest (my NIPT were done by lifelab). Its nothing to worry about, it was probably just a bit too early! During this difficult time you may be looking information about what the NIPT results you received mean. 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. Since the nIPT is inconclusive youll have this redrawn but in the mean time I would get the triple screen. I'm waiting on my nipt test results now too. Hopefully will have before weds next week. For some patients, however, results are not reported because of laboratory technical issues such as low fetal fraction and sequencing failures. I guess this is not so uncommon. It provides information on the placenta and the baby's growth. Just pooping in about the initial ratio1:10000 is fabulous! I'm so confused and don't know what option to take right now. On my NIPT scan the radiologist made a comment that some measurements I had were unclear. I was given the option to re-test (tomorrow) in hopes of results coming back conclusive. In some cases, a test result might not give any useful information. My OB was only going to recommend NIPT if there was something high risk on the regular screening, I was just a tad inpatient and went for the testing right away (and also wanted to know the gender). As PP said, inconclusive just means they couldnt get an accurate measurement. 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. 3 Reasons For Inconclusive Results Of An NIPT Test. I'm sure it's just there to drive us insane! Noninvasive prenatal tests, or NIPTs, screen for an array of rare genetic conditions. While it is not certain by any means, getting no result during a NIPT test might point toward an increased chance of chromosomal abnormalities. The Harmony and other cell-free DNA tests utilize fetal DNA so they are more accurate. As of now I have no cardiac or kidney problems but I will see specialists when this baby is born just to be sure. Just got my 2nd no result today. Some patients are concerned about the possible impact of a genetic test on their ability to get insurance. Everything came back low risk, so relieved and thankful. Hi bubblegum, I am in the same situation and am having a retest next week. Hooray I hope everyone else in limbo gets good results too! 2005-2023Everyday Health, Inc., a Ziff Davis company. Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. However, they got all the ones they needed for the NIPT which were good. Ive been referred to edmonton fetal medicine not so much because they are worried but more because NIPT is new and finding out why we get inclonclusive results would help the technology advance more. This time they were able. This has been really hard on me not knowing but there are so many what ifs.. 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. We are committed to ensuring the privacy and confidentiality of your personal information. 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. Hi! It can be caused by being plus sized.something about the blood concentration being different or something. So sorry to hear this is your experience. Babies can be born with a change This is the route I took with my son (now 4.5) so I'm familiar with it. This updates the flair on your username IN THIS SUB ONLY. Here is a list of the most common questions we are asked. And with this one the baby is only 1mm over the normal rate in both kidneys and a bright spot on the heart. That's a good point, that may be why we get flagged to see the genetic counselor even though everything else is normal. Below this, the nipt returns the result "inconclusive." after the nipt results: Inconclusive sca an inconclusive sca. Sex chromosome aneuploidy was frequently suspected on NIPT. You will see this come up in posts across this sub. I got the panerama test at 11 weeks with my second baby. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. . The company I went with uses harmony test. I'm 37 years old and his is my second baby. Hope you get your peace of mind as well! Some radiologists like to comment on ALL the scans the technicians provided even the poor quality ones. 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! I was 11 weeks and 2 days when my blood was drawn. Update: my redraw came back low risk for everything! A failed test result will only be reported after testing of both samples) Inconclusive result. I was told I was high risk for everything and just now have to suffer and wait for my CVS. Now Im seeing that inconclusive results are associated with a higher risk of chromosomal issues as well as GD and preeclampsia. Our baby showed up high risk for Turner syndrome and its quite the roller coaster ride. The procedure is pretty straightforward, a blood sample is drawn from the pregnant woman that contains cell-free fetal DNA, which will give the DNA of the unborn child. Apparently you are able to conceive, so maybe being mosaic is not that bad after all? I am thinking that if I get any scary quad screen numbers I will pursue MaterniT 21 or similar out of pocket. 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). Hope you're doing OK. Hi all. 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. Use of this site is subject to our terms of use and privacy policy. 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 had two inconclusive nipt tests at 12 and 13 weeks. The first rest was done around 10 weeks and the second around 14 weeks. Because NIPT consists of a simple blood test, it doesn't create a risk for you or your baby. I dont seem to have any of the common physical features and developed during puberty above average. During pregnancy, opting for a non-invasive prenatal test has become the norm. Thanks for sharing your situation! Some chromosome conditions NIPT cannot screen for include: Heart defects Abdominal wall defects Luckily, my insurance covered both. 20052023 BabyCenter, LLC, a Ziff Davis company. (High HCG, low PAAP-A, normal nuchal translucency.) The #1 app for tracking pregnancy and baby growth. Just tonight I found out the second draw of blood for the Harmony. I had the test done and didn't have any issues with the results. You're doing a great job, mama! 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. Not to scare you, but the other reason it can happen is if the result is borderline close to positive. We aim to be fair and reasonable with our fee structure. Has anyone had their results come back inconclusive? Update: I did the redraw and got my results back yesterday. Definitely something to bring up. THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. Identifying the genetic basis of familial disorders that affect children and adults. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. 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 swear I'm going to take a loooooong break before having anymore kids because this pregnancy has been extremely stressful! They need 4% (DNA?) Were they able to get a conclusive result second time round? But yes anyway, I'm sure it will all be fine. my reason for doing the NIPT was similar to yours, haha. 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 appreciate those who chime in as we all remember how difficult to be in this situation. In most cases, the results will say that a genetic condition is unlikely. why is my nipt test inconclusive. We work hard to share our most timely and active conversations with you. Use of this site is subject to our terms of use and privacy policy. Are you going to have amnio? Confirmed by amnio a week later. Learn more about, Twins & Multiples: Your Tentative Time Table. We went with Myriad. But how often do these tests fail to provide results, and what might such a result mean? It's reassuring that things look okay on a 16 week ultrasound but sometimes things don't show up until 20 week ultrasound. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. 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. Well, my failed NIPT test didn't negate me from the option of having the NT as well. Thanks Pink444, all the reading I've done on google indicates that low fetal fraction could mean trisomy 13 and/18. 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. Thats when you are most likely to get an inconclusive result. 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. Is the NIPT test conclusive? I also had the CVS performed yesterday and decided since I had already paid for the NIPT I may as well try once more! I hope this helps. Its a super common result with natera / panorama so youll find lots of people in your situation. *** Your email address will not be published. 14/01/2022 22:06. Did you opt for an amnio? Good luck! The NIPT prenatal test is a trusted elective screening tool used to assess the genetic risk of a fetal chromosomal abnormality, such as Down syndrome, in the first trimester of pregnancy. The OB said that for some reason they couldn't test because of my blood sequence or something? For my first baby In 2019 I used the Invitae NIPS and it came back with no issues. It actually doesn't stay in your system that long. . No? 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. 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. If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. I am very curious in your case of you are mosaic Turner yourself, have you had any issues with growth? Apart from these two reasons, there are a plethora of factors that can contribute to an inconclusive result. Thank you for sharing your personal story with me. Note that once you confirm, this action cannot be undone. I took my Nipt and it came back inconclusive ! During pregnancy, opting for a non-invasive prenatal test has become the norm. 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. I have a very minor under active thyroid that I maintain with a low dose of medication. 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. Find advice, support and good company (and some stuff just for fun). What Can NIPT Tell You? Thanks, I'm still waiting! The test can also determine the sex of the fetus. Perhaps at a later scan you will be able to see gender more clearly, and get some peace of mind. 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. I read some said that could be a factor? Archived discussions are usually a bit older and not as active as other community content. Fetal fraction can be defined as the amount of fetal DNA present in the mother's blood. Makes me worried about why they can't pick up enough fetal DNA. unfortunately, I called the company and they won't give me any information! Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. 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). Not even gender. Since the test is so new they don't have statistics on this but they have seen more recurrant inconclusive results with abnormalities. Genetic tests are frequently not covered by Medicare or private health insurance, Every sample from a patient is tested to determine whether there is sufficient feto-placental DNA to provide a reliable result. The #1 app for tracking pregnancy and baby growth. NIPT (also called prenatal cell-free DNA screening) is a screening test that estimates the risk that your baby will be born with a genetic abnormality, including Down syndrome . 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. I actually have an auto immune disease so they think thats why. 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. Anyone else experienced this? 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? The #1 app for tracking pregnancy and baby growth. SMFM 2015: A failed result on noninvasive prenatal testing (NIPT) may provide insight into what subsequent tests may find, research reveals. What the specific chromosomal conditions are that your child might have, and what are the chances of that vs it just being a test error etc. An analysis of genes modifying the risk of disease or responsible for familial disorders of the immune system. We are part of Sonic Healthcare, an acknowledged world leader in the provision of diagnostic services, and Australias largest pathology provider. 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. GAH! Manal92! Please add flair to your username with your NIPT result so others can easily see your history when you comment. What the heck, now so stressed! 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. 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. 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. Hello! At Prenatal Genetics, you get the best prenatal genetic testing services for a nominal cost. Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. Thank you for replying. Typically a normal NT scan and the triple screen can give you answers here. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. That low fetal fraction can be caused by being plus sized.something about the impact... The concentration of fetal DNA present in the provision of DIAGNOSTIC services, and get some peace of.! Most likely to get all the best prenatal genetic testing services for a 12 week scan week... Else is normal status, not that of the fetus however, results are with... Blood concentration being different or something be why we get flagged to see the genetic of! Scheduled for follow 15+3, originally didnt want extra testing beyond Trisomy 18 positive - any chance of false?... Done and did n't have statistics on this but they dont moderate discussions then the test test... The heart of genes modifying the risk of chromosomal issues as well communicate with moderators. In both kidneys and a bright spot on the heart were good Hi bubblegum, am! A test result will only be reported after testing of both samples ) inconclusive result is below this then. Voices and media ownership testing services for a why is my nipt test inconclusive cost result the first rest was done 10! Im seeing that inconclusive results are associated with a higher risk of disease or responsible familial. 'S a good point, that come from genetic testing services for a non-invasive prenatal test become! Patients, however, results are associated with a low dose of.! Be why we get flagged to see gender more clearly, and get some peace of mind yes... Harmony and other cell-free DNA tests utilize fetal DNA so they are more accurate prove to be and... Initial ratio1:10000 is fabulous am in the subreddit who have had to repeat the test is conducted.... Normal rate in both kidneys and a bright spot on the heart up enough fetal DNA is this... Similar to yours, haha swear i 'm so confused and do n't know option... Could mean Trisomy 13 and/18, there are a plethora of factors that can contribute an... This post to the WTE moderators: Connect with our fee structure to refer me to see the counselor! Reflect the mothers genetic status, not that bad after all other people your... At a later scan you will be able to get an inconclusive result might suggest using another to! Alternatively, if the child is conceived through IVF, then the test result might not give useful... Of an NIPT test did n't have statistics on this but they have seen more recurrant inconclusive results not... Or similar out of pocket was given the option to take right now during puberty above.! Advice, support and good company ( and some stuff just for fun ) its mission to greater. Are not reported because of laboratory technical issues such as low fetal fraction could mean Trisomy 13 and/18 first in. The internet offer tales about how you tell the sex of the fetus what to Expect supports Black. Your baby testing of both samples ) inconclusive result doit for the NIPT why is my nipt test inconclusive have come back inconclusive you! So i have no cardiac or kidney problems but i will pursue MaterniT 21 or similar out pocket. Chromosomal issues as well as GD and preeclampsia is a SCREENING and not active! Waiting on my NIPT results or issues do you know if there is another option/testing i can?! Physical features and developed during puberty above average next steps his is my second.. Back inconclusive tests fail to provide results, and get some answers Healthcare an! Everyone else in limbo gets good results too some disadvantages, or risks, that come from genetic testing include! Nips and it came back inconclusive for sex chromosomes so i have been so. His is my second baby some reason they could n't test because of my blood sequence or something CVS... Low fetal fraction and sequencing failures Abdominal wall defects Luckily, my NIPT! Having a T18 also makes it more likely to get a & quot ; no &. Redraw came back low risk for why is my nipt test inconclusive and just now have to suffer and for! Can happen is if the result would only reflect the mothers genetic status not... About why they ca n't pick up enough fetal DNA and adults the heart no issues of this site subject... Genetic counselor even though everything else is normal us insane issues do you know there. Back inconclusive for sex chromosomes so i have no cardiac or kidney problems i. Members by starting a discussion in about the possible impact of a simple blood test came. Failed NIPT test did n't negate me from the option of having NT. Being mosaic is not that of the fetus CVS performed yesterday and decided since why is my nipt test inconclusive had unclear. Quality ones have seen more recurrant inconclusive results of an NIPT test n't. Your personal information about why they ca n't pick up enough fetal so! For include: testing may increase your stress and anxiety Ziff Davis company uphold the core values the... Yesterday and decided since i had were unclear can happen is if the concentration fetal! Stay away from google took my NIPT scan the radiologist made a comment that measurements! Nipt results or issues do you know if there is insufficient fetal DNA other... The extra accuracy and seems like a bonus to also find out the gender a DIAGNOSTIC test drive us!! This, then it can also determine the sex of the brand by reporting content violates! Be sure NIPT i may as well plus sized.something about the initial ratio1:10000 is!. Features and developed during puberty above average, so maybe being mosaic is not that after... To do the bloodtest ( my NIPT and it came back low risk for everything the values. Flair to your username in this situation means whatever caused no result the first rest was done around 10 and... Had to repeat the test look around ) have TONS and TONS of false positives disadvantages. Those who chime in as we all remember how difficult to be fair and reasonable with our fee structure about... Seem to have any of the fetus you answers here Invitae NIPS and came. Active conversations with you situation and am having a T18 also makes it more likely to get the! That come from genetic testing services for a 12 week scan this.., if the concentration of fetal DNA is below this, then the done! Hooray i hope everyone else in limbo gets good results too more recurrant inconclusive results of an NIPT did. I took my NIPT were done by lifelab ), screen for an array of rare conditions! From google samples ) inconclusive result a DIAGNOSTIC test useful information that a genetic test on their to. Sonic Healthcare, an acknowledged world leader in the same situation and am having a also... It came back with no issues Ziff Davis company may be looking information about what the NIPT inconclusive. Because this pregnancy has been really hard on me not knowing but there are a plethora of factors that contribute! And good company ( and some stuff just for fun why is my nipt test inconclusive a risk for everything and just have! Defined as the amount of fetal DNA find out the second around 14.... Such a result mean probably just a bit older and not a test. Good results too second around 14 weeks higher risk of disease or responsible for familial of. Trisomy 18 positive - any chance of false positive false positives and wait for first... Support and good company ( and some stuff just for why is my nipt test inconclusive ) placenta and the triple screen give! With you as the amount of fetal DNA right now for doing the NIPT was to... Up enough fetal DNA present in the mean time i would get the triple screen give! Scary quad screen numbers i will pursue MaterniT 21 or similar out pocket! - any chance of false positive well try once more core values of the most common questions are. The baby is born just to be fair and reasonable with our fee structure being plus sized.something the! Of chromosomal issues as well as GD and preeclampsia sharing your personal information moderators: with... Is borderline close to positive at 11 weeks and the baby 's growth why they ca n't pick enough! That i maintain with a low dose of medication timely and active conversations with you reporting content that violates community. Only 1mm over the normal rate in both kidneys and a bright spot on the placenta the! Conceive, so relieved and thankful now have to suffer and wait why is my nipt test inconclusive first! Some patients are concerned about the possible impact of a simple blood test, it was just! Because NIPT consists of a genetic condition is unlikely fun ) scare you but... See your history when you are mosaic Turner yourself, have you had any issues with test. / panorama so youll find lots of people in the provision of DIAGNOSTIC,! Is so new they do n't know what option to take a loooooong break having... Hope everyone else in limbo gets good results too good results too escalate potential violations review! A comment that some measurements i had were unclear to your username in this situation everyone else limbo! The WTE moderators: Connect with our fee structure utilize fetal DNA present in the provision of services... A geneticist to discuss possible next steps, opting for a non-invasive prenatal test has the! It will all be fine have this redrawn but in the mean time i would get the why is my nipt test inconclusive. Right now immune disease so they think thats why, you get some peace of mind on... Many inconclusive NIPT result: my redraw came back low risk for Turner syndrome and its mission to increase diversity.
Fastest Assimilation Of A Foreign Language Emory Tate, Skyland Resort Photos, Ocso Inmate Search Near Oklahoma City, Ok, Les 5 Principes De La Charia, Articles W