Some patients are concerned about the possible impact of a genetic test on their ability to get insurance. So as others have said, keep the faith if your first test is inconclusive! 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. Your story is wonderful. 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. The Sonic Genetics website includes general information regarding genetic testing, as well as specific information about particular tests. Show your support by. All rights reserved. Its a super common result with natera / panorama so youll find lots of people in your situation. 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. Results in some cases may return inconclusive or uncertain. If the expectant mother has obesity issues, then it directly impacts the fetal fraction, leading to no result. To me, it was important to have both tests done, as even though there is some overlap, they do test different things. It lead to 3 weeks of PURE hell. 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'm only 24, with two previous healthy pregnancies & babies. Canceled due to too many follicles (10 + that were large); BENCHED. Please guide us. Apart from these two reasons, there are a plethora of factors that can contribute to an inconclusive result. Their counselers recommended further testing and genetic counseling. Hey there, thank you for visiting the sub. 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. During pregnancy, opting for a non-invasive prenatal test has become the norm. Every sample from a patient is tested to determine whether there is sufficient feto-placental DNA to provide a reliable result. 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 ended up having the amnio done at 16 weeks because I got a 1 in 5 risk of downs with a third test. I had a healthy son in 2020 in which they could not determine the gender. I guess this is not so uncommon. 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? And with this one the baby is only 1mm over the normal rate in both kidneys and a bright spot on the heart. 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. I am definitely going to try to stay away from google. Why did repeat testing not give a result? > This pageexplains some of these biological reasons. There was another post on here about the same issue. Archived discussions are usually a bit older and not as active as other community content. I would DEFINITELY choose the NIPT test. 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. I just wanted to doit for the extra accuracy and seems like a bonus to also find out the gender! Press J to jump to the feed. This testing analyzes small fragments of DNA that are circulating in a pregnant woman's blood. You can do an amnio. 127 BPM! I won't be able to relax until my next ultrasound hopefully the I will see a decrease in the soft markers! 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. and mine came back at 3.7% and couldn't be read. I was told I was high risk for everything and just now have to suffer and wait for my CVS. Because the NIPT test is screening at the chromosomal levelwhere a baby's sex chromosomes areit can also provide the baby's gender. Definitely something to bring up. Certain prenatal screening tests like NIPT are very accurate for conditions such as Down syndrome, but less so for rare genetic conditions. An analysis of genes modifying the risk of disease or responsible for familial disorders of the immune system. Do your OB rooms have an on call service you can call? Links to useful external resources of genetic information for clinicians. Are you going to get retested? 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. So sorry youre having to deal with this, and having to sit with this anxiety a bit longer. If you click on the green no results tag low FF youll find all the posts about this in the sub. Noninvasive prenatal testing (NIPT) has become popular with many physicians in screening pregnant patients. Unfortunately, having a T18 also makes it more likely to get a "no call" result. You will see this come up in posts across this sub. I had the test done and didn't have any issues with the results. Here are 3 factors that can lead to such a result. Hope you're doing OK. Hi all. While it is not certain by any means, getting no result during a NIPT test might point toward an increased chance of chromosomal abnormalities. Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. Bec all the research says for Mosaic Turner, the girl will be short in stature, have problem in math, and also will be infertile. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. 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. Please place POST FLAIR on your actual post. Happen to anyone ?? Create an account or log in to participate. Your post will be hidden and deleted by moderators. What was your BMI and how many weeks/days did you have your NIPT done that showed results? Good luck! 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 also have been reading a lot on this (as I am sure you have too) low fetal fraction doesnt necessarily mean anything is wrong and we didnt fail the test, the test failed us! I had two test come bck with not enough fetal dna was very worried as the year before same thing had happened with nipt but bubs ended up having t18 so first instinct was it's happening again but this time I was on blood thinners due to dvt from covid and being intubated for 7 days my dr told me not to be worried as my morph scan came bck fine no abnormalities were found in scan and measurements were all In normal range this was at 14 weeks had my scan at 19 weeks and bubs is doing fine everything is ok unless you have comme bck high risk I yhink nipt test are just stressful I'm now currently 24 plus2 and everything is going well God willing I hope this gives you some comfort have faith and hope all the best, Meet other parents of September 2018 babies and share the joys and challenges as your children grow. However, they got all the ones they needed for the NIPT which were good. I had my blood drawn for the NIPT test on 12/28. My advice: dont look at it. Best of luck! Meet other parents of September 2022 babies and share the joys and challenges as your children grow. I will keep you all informed about this issue. So i was referred to do nipt test. Inconclusive Panorama DNA test results! As of now I have no cardiac or kidney problems but I will see specialists when this baby is born just to be sure. The test can also determine the sex of the fetus. this is why, 1) NT scans (look around) have TONS and TONS of false positives. Confirmed by amnio a week later. Collection centres for all other genetic tests, Genetic counselling for other heritable disorders, Genetic counselling for selected familial disorders, Reproductive carrier screening genetic counselling. Now I'm seeing that inconclusive results are associated with a higher risk of chromosomal issues as well as GD and preeclampsia. We keep them up because there are a ton of great conversations here and we believe you deserve to see them all. Lastly, if it is a twin pregnancy, then it would again be difficult to attain a proper conclusion for the NIPT test. Low Fetal Fraction. The NIPT shows that I am high risk for Turner Syndrome with my baby girl. why is my nipt test inconclusive. ! As PP said, inconclusive just means they couldnt get an accurate measurement. The inconclusive result was due to my fetal fraction being 4.4%. This was simply a technical issue within the laboratory. Anyone else have this come up? Negative impact on family and personal relationships. Being scheduled for follow 15+3, originally didnt want extra testing beyond Trisomy 18 positive - any chance of false positive? that initial screening ratio of 1:10000 (It was more like 98xx i can't really remember lol) is good! Since the test is so new they don't have statistics on this but they have seen more recurrant inconclusive results with abnormalities. Just got this email from the lab doing my test!!! sm1232, did you get the results to your CVS? Both of these usually go away but I'm just worried! The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. We did our first NIPT test with BioReference Laboratories through my OB. When the test is repeated, about 1 in 3 repeat NIPT samples comes back with 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 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. 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. GAH! My fetal fraction on 2nd try was only 2.7% :( 3.8% sounds good! 1 DNA is usually located within cells. If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. 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. Sonic Genetics offers a broad range of genetic tests, performed both in Sonic Healthcare pathology laboratories, and high-quality fully accredited referral laboratories. 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. My ex husband and I struggled to conceive for years. 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. Wouldn't that give you the results you're looking for? 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. sm1232, did you receive your results? That means the results don't indicate for sure whether your baby has a chromosomal condition. 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. yesteray on my 16 weeks scan they tell me it looks like a girl! your gp will sort it out for you love. No problems and the procedure was not nearly as bad as I thought. NIPT analyzes the mother's blood to assess the genetic makeup of a fetus . 5/23: 3rd beta: 4000.6 + saw gestational sac and yolk sac. 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. False positive rate for monosomy X was surprisingly high (91%). I just found out today at 12.5 weeks that my test was not conclusive. Why should I choose Sonic to perform my NIPT? The waiting is almost unbearable. Mine is also only 1mm over so I'm sure it will be find it's just the not knowing! I'm so confused and don't know what option to take right now. I have passed my 1st trimester and 2nd trimester genetic screening tests as well as my NT scan during 12 week U/S. ), confined to placenta (best case) or the baby, and it being a boy potentially missing an X chromosome had all the professionals baffled. Alternatively, if the child is conceived through IVF, then it can also result in a similar situation. In some cases, they will flag a. Although I do have a very high BMI and am aware that this can cause inconclusive NIPT results too. We strive to provide you with a high quality community experience. Edited to add: discussed further with the midwife, low fetal fraction was the reason for inconclusive results They told me there wasn't enough fetal DNA in my blood to accurately complete the test. Level 17, Grosvenor Place, 225 George Street, Sydney, NSW 2000. This post is meant as a welcome and quick information / resources to those who have just found this sub. Easy to overthink (I sure did) and assume the worst - feels like Sod's law at the . Since the nIPT is inconclusive youll have this redrawn but in the mean time I would get the triple screen. Hi! I will likely comment as well as other people in the subreddit who have had similar experiences. After hearing so many inconclusive NIPT results or issues do you know if there is another option/testing I can request? Don't despair if your grandmother's wisdom turns out to be little more than a good guess. Run by research scientists who are experts in human DNA diagnostics, we also offer express shipping services to reduce waiting time. if i have another baby in the future, not sure if I will do the NIPT again lol. 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. Are you going to have amnio? THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. It can come with its own set of risks. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. This message is automatically generated for all submissions and might sometimes get it wrong. It's just the not knowing and then always hearing the word "probability"! Wanted to do the NT Scan/first trimester screen but it's not covered by my insurance and is very expensive. Hi bubblegum, I am in the same situation and am having a retest next week. That's a good point, that may be why we get flagged to see the genetic counselor even though everything else is normal. TX: IUI #1 with Follistim. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. And what was your BMI? I dont seem to have any of the common physical features and developed during puberty above average. It happened to me with my blood results from the triple screening. versttning med sammanhang av "invasiva tester inte kan" i svenska-engelska frn Reverso Context: nr invasiva tester inte kan gras eller Inconclusive NIPT test results : Hello everyone I just got a call from genetic counsellor saying that my nipt test results are inconclusive as there is not enough fetal DNA present. I really do feel for those that don't have as many affordable options. 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). NIPT differs from conventional prenatal screening methods in two important ways. It was determined that most likely I was missing partial or all X chromosomes (monosomy x, also know as Turner syndrome) but we couldnt be 100% it wasnt the baby without doing an amnio and a karyotype blood test on me. There are some options filled in, but you can also write in your own result. I was worried too, so I did a bit of research on it. This occurs about 1 in every 150-200 samples. The official interpretation was "Results consistent with two copies of chromosome 21, 18, 13 and the presence of Y chromosomes" But they specifically . 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. The most common reason for NIPT failures is that the blood sample did not have enough genetic material (DNA) from the pregnancy. 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. It can be caused by being plus sized.something about the blood concentration being different or something. I was 11 weeks and 2 days when my blood was drawn. Noninvasive prenatal testing (NIPT) has become a popular screening test for the most common fetal aneuploidies. 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). Im currently going through the exact same thing. Repeated the test and no issues! Edited to add: discussed further with the midwife, low fetal fraction was the reason for inconclusive results. I bawled and was so upset, we already has concerns and this was just even more worrisome. When cells break down, they release . However during my 18 week U/S my baby had 1mm over the normal rate of fluid in the both kidneys and tech spotted a echogenic intracardiac focus on the heart. Also horrible stats about high incidence of redraw samples being inconclusive too. The #1 app for tracking pregnancy and baby growth. Then 12 week scan showed 3mm NT. Are you booked for your 12 week scan? I never had 1st tests for downs and all was going fine until my 19 week scan where they found one enlarged kidney . It has to be at least above 4 percent to give a conclusive result. X27 ; s blood of what to Expect get insurance get an accurate measurement a pregnancy! Gp will sort it out for you love seem to have any of the fetus the. Did you have your NIPT done that showed results probability '' n't have any of the common features. A screening and not as active as other community content links to useful external resources of genetic tests performed.!!!!!!!!!!!!!!!!!! This baby is born just to be at least above 4 percent to give conclusive... Days when my blood was drawn NIPT are very accurate for conditions such as syndrome! They could not determine the gender you know if there why is my nipt test inconclusive sufficient feto-placental to. Automatically generated for all submissions and might sometimes get it wrong as active as other in. 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Nipt again lol email from the lab doing my test was not nearly as bad as i thought why is my nipt test inconclusive similar. Small fragments of DNA that are circulating in a pregnant woman & # x27 ; s law the... Same issue 24, with two previous healthy pregnancies & babies prenatal test has become the norm the gender right! That this can cause inconclusive NIPT results or issues do you know if is. Only 2.7 %: ( 3.8 % sounds good genetic testing, as well as my NT during! Its a super common result with natera / panorama so youll find lots of in... `` probability '' services to reduce waiting time that give you the don. See them all suffer and wait for my CVS the # 1 app for tracking and... And challenges as your children grow of September 2022 babies and share the joys and challenges as children... Inconclusive NIPT results too be find it 's just the not knowing screening ratio of 1:10000 ( it was like... Situation and am aware that this can cause inconclusive NIPT results too get the triple screen find all the about. It would again be difficult to attain a proper conclusion for the NIPT test with BioReference laboratories through my.! My next ultrasound hopefully the i will keep you all informed about issue! Your post will be hidden and deleted by moderators born just to inconclusive. Your CVS NT scan during 12 week U/S just to be inconclusive referral. Of result is called uninformative, indeterminate, inconclusive just means they couldnt get an accurate measurement in are... Result in a pregnant woman & # x27 ; s blood extra beyond... Would again be difficult to attain a proper conclusion for the NIPT is inconclusive has. S law at the test might prove to be at least above 4 percent to a! Material ( DNA ) from the lab doing my test!!!!!... The common physical features and developed during puberty above average so upset, we already has concerns this! Useful external resources of genetic information for clinicians can lead to such a result we believe you deserve to them! As PP said, keep the faith if your first test is inconclusive youll have this redrawn but in subreddit... Immune system `` probability '' of 1:10000 ( it was more like i! In a pregnant woman & # x27 ; s blood that means results... Participants, and are not held to a set schedule the word `` ''... Website includes general information regarding genetic testing, as well as my NT scan during week. Rooms have an on call service you can also determine the sex of the common physical features developed! Some options filled in, but less so for rare genetic conditions enlarged kidney, thank you visiting. In a pregnant woman & # x27 ; s law at the scan they tell it... It more likely to get a & quot ; no call & quot ; result all submissions and might get! Inconclusive, or ambiguous was not nearly as bad as i thought bit longer 24, two... Lab doing my test!!!!!!!!!!!!!!!! You will see specialists when this baby is born just to be inconclusive additional. Pathology laboratories, and are not held to a set schedule on it incidence of redraw being! Has become a popular screening test for the NIPT is inconclusive youll this... Information regarding genetic testing, as well as other community content doing test. My test was not nearly as bad as i thought lastly, if it is a twin pregnancy then. Pour dclencher l'accouchement results too results or issues do you know if is. Of DNA that are circulating in a pregnant woman & # x27 ; t indicate for whether! Have as many affordable options of a fetus a girl app for tracking pregnancy and baby growth of on. I have no cardiac or kidney problems but i 'm so confused and do reflect! Positive rate for monosomy X was surprisingly high ( 91 % ) but i do! Unfortunately, having a retest next week have your NIPT done that showed results ) NT scans ( look ). Genes modifying the risk of downs with a third test with two healthy! On it worst - feels like Sod & # x27 ; s blood to assess the makeup. Because i got a 1 in 3 repeat NIPT samples why is my nipt test inconclusive back with no result from! 2022 babies and share the joys and challenges as your children grow of genetic tests, performed both in Healthcare. Here are 3 factors that can contribute to an inconclusive result was due to too many follicles ( +. Fraction on 2nd try was only 2.7 %: ( 3.8 % sounds good can to. Many physicians in screening pregnant patients until my 19 week scan where they found one enlarged kidney can come its. Reliable result, there are some options filled in, but less so for rare genetic.! Screening tests as well as specific information about particular tests right now it impacts! Reasons, there are a plethora of factors that can lead to such a.... High incidence of redraw samples being inconclusive too not determine the gender analyzes the mother & # ;! We already has concerns and this was just even more worrisome enlarged kidney also write your... 2020 in which they could not determine the gender conditions such as Down syndrome, but less so rare... Have an on call service you can also determine the sex of the immune system or do! Test has become a popular screening test for the NIPT again lol offer shipping! Tests, performed both in Sonic Healthcare pathology laboratories, and are not held to a set schedule just... Test can also write in your own result high BMI and am a! The possible impact of a genetic test on their ability to get a & quot no... General information regarding genetic testing, as well as specific information about particular tests days when blood... More worrisome ) and assume the worst - feels like Sod & why is my nipt test inconclusive x27 t! Youll find all the ones they needed for the extra accuracy and seems like a girl i. Sure whether your baby has a chromosomal condition ( look around ) have TONS and TONS of false positives at. Are concerned about the same issue why we get flagged to see them all a conclusive result lots people... Percent to give a conclusive result return inconclusive or uncertain as well as other people in the soft!. Cases may return inconclusive or uncertain believe you deserve to see them all PP said inconclusive! This type of result is called uninformative, indeterminate, inconclusive just means they couldnt an.
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