Start by selecting which of these best describes you! I wouldn't necessarily do the amnio for that if the baby is otherwise healthy. why is my nipt test inconclusive. 16 week ultrasound scheduled for Monday, June 6 and Amniocentesis scheduled for Wednesday, June 8. Hope you're doing OK. What the heck, now so stressed! Are you going to have amnio? This message is automatically generated for all submissions and might sometimes get it wrong. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. Good luckI hope all is well with baby! Im 20 years old Microarray (rare duplication? 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). NIPT is most often used to screen for trisomy. Group Black's collective includes Essence, The Shade Room and Naturally Curly. Find advice, support and good company (and some stuff just for fun). I have been feeling so worry and pessimistic ever since the NIPT result. 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. 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 don't think i would want to do an amnio either as I am not even high risk. Analysis of genes involved in drug metabolism and hypersensitivity, allowing clinicians to prescribe with confidence. Im barely 53, but I have about a half an inch in my older sister and come. I am definitely going to try to stay away from google. These assays provide information that is not available from histological examination, and can help guide diagnosis, therapy, and monitoring of disease. We work hard to share our most timely and active conversations with you. How far along are you currently? I thought I would share my story in case it helps anyone else! NIPT differs from conventional prenatal screening methods in two important ways. Fingers crossed your 12 week scan comes back ok. Please specify a reason for deleting this reply from the community. Hope all are doing well, and best wishes! I think in my case, my first test must have been borderline. This was simply a technical issue within the laboratory. There was another post on here about the same issue. I needed a NIPT done as there were MANY concerns on my 20 week ultrasound. Fingers crossed for u! I had the same thing on my panorama test but I was 9 weeks. I met with a genetic counsellor who reviewed my file, age and risk, nd we decided together no further testing was needdd however for peace of mind and funsies we did the quad test which is a hormone test and can flag for trisonmies. Someone please help calm my nerves! 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. Thanks! 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 the results don't indicate for sure whether your baby has a chromosomal condition. So doesnt seem like Im low risk but My obgyn wants to refer me to see a geneticist to discuss possible next steps. NIPT analyzes fragments of the baby's DNA found circulating in a pregnant person's blood. . 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 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. My entire NIPT including gender was inconclusive, and I was told it was not due to low fetal fraction. My doctor said I can test after 10 weeks, but I read that having a high BMI may result in inconclusive on an NIPT if done too early. For my first baby In 2019 I used the Invitae NIPS and it came back with no issues. if i have another baby in the future, not sure if I will do the NIPT again lol. 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. Surely I'm worried. March 31, 2022 . Often harry hill family. Alternatively, if the child is conceived through IVF, then it can also result in a similar situation. 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! They are up to 99% accurate for chromosomal abnormalities. On my NIPT scan the radiologist made a comment that some measurements I had were unclear. But how often do these tests fail to provide results, and what might such a result mean? 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. Our fees are set at a level to ensure that we can deliver a high quality and comprehensive genetic pathology service to you. All rights reserved. I got the panerama test at 11 weeks with my second baby. Fetal fraction can be defined as the amount of fetal DNA present in the mothers blood. Just got my 2nd no result today. I am very curious in your case of you are mosaic Turner yourself, have you had any issues with growth? I just got the results back and it says test not performed which then says is because of low fetal fraction. Anyone else have this come up? The #1 app for tracking pregnancy and baby growth. So I spent around 5 days suffering because of google. I have passed my 1st trimester and 2nd trimester genetic screening tests as well as my NT scan during 12 week U/S. 5/30: 4th beta: 17,852 + saw fetal pole and heard heartbeat! I'm grateful insurance pays for both. Archived discussions are usually a bit older and not as active as other community content. The #1 app for tracking pregnancy and baby growth. I dont seem to have any of the common physical features and developed during puberty above average. ! I won't be able to relax until my next ultrasound hopefully the I will see a decrease in the soft markers! No problems and the procedure was not nearly as bad as I thought. It has relieved some of my anxieties. I hope your 3rd test will give you the 4% you need! Noninvasive prenatal testing (NIPT), is a screening test for determining the risk of certain chromosomal abnormalities in the fetus. I had the first level bloodwork and NT scan and they came back normal. I would DEFINITELY choose the NIPT test. Non-invasive prenatal testing (NIPT) using cell-free DNA in maternal blood is a relatively new screening modality for the common trisomies of chromosomes 21, 18 and 13 and sex chromosome aneuploidies. Get weekly updates on baby and your body. 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? That requires that there be sufficient fetal DNA (together with other quality factors) that we can provide a reliable report. Hi bubblegum, I am in the same situation and am having a retest next week. Before going the more invasive route, I demanded a second test from a different company. Both of these usually go away but I'm just worried! Or just monitor babies kidneys? 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. Note that once you confirm, this action cannot be undone. 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. Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. Did you opt for an amnio? No, NIPT is a screening test, not a diagnostic test. Sonic Genetics offers a broad range of genetic tests, performed both in Sonic Healthcare pathology laboratories, and high-quality fully accredited referral laboratories. POSITIVE PREDICTIVE VALUE CALCULATOR FOR NIPT RESULTS https://www.perinatalquality.org/Vendors/NSGC/NIPT/, *I highly suggest you first read through everything in main post located here to start: https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/, *After this head over to this post about the actual individual results: https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/. 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. Your post will be hidden and deleted by moderators. Hoping all is ok. Your body then filters it out. We strive to provide you with a high quality community experience. There are some options filled in, but you can also write in your own result. During pregnancy, opting for a non-invasive prenatal test has become the norm. Edited to add: discussed further with the midwife, low fetal fraction was the reason for inconclusive results Pregnancy. I'm sure it's just there to drive us insane! 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. In cases where the father of the child has not been determined, couples may opt for a non-invasive prenatal paternity test. They said I can get retested and said maybe cause blood had to fly from nz to au? I appreciate those who chime in as we all remember how difficult to be in this situation. It lead to 3 weeks of PURE hell. 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. 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 advice: dont look at it. (1/19). 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. Ugh. *** Your email address will not be published. This occurs about 1 in every 150-200 samples. I was told 1-2 weeks but if I didnt get a call to let my doctor know so she can request again. Screening of couples prior to conception, or during early pregnancy, including non-invasive prenatal testing (NIPT). This post is meant as a welcome and quick information / resources to those who have just found this sub. I'm waiting on my nipt test results now too. Hopefully will have before weds next week. It could either actually be me (and could it be passed down? 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. If that is all normal I wouldnt worry about this. I just found out today at 12.5 weeks that my test was not conclusive. This has been really hard on me not knowing but there are so many what ifs.. Press question mark to learn the rest of the keyboard shortcuts, MOD obgyn PA False Positive +T18 girl 2020, https://www.perinatalquality.org/Vendors/NSGC/NIPT/, https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/, https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/. So frustrating!!! Its 100% accurate (I believe). Wouldn't that give you the results you're looking for? Every sample from a patient is tested to determine whether there is sufficient feto-placental DNA to provide a reliable result. Learn more about, Twins & Multiples: Your Tentative Time Table. 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. Costs about 50 bucks. The waiting is almost unbearable. So i was referred to do nipt test. During this difficult time you may be looking information about what the NIPT results you received mean. Just wondering if anyone has been through something similar :( thanks. Doctor said inconclusive NIPT could be because of my BMI or a chromosome problem. and mine came back at 3.7% and couldn't be read. I had an inconclusive harmony test at 10 weeks exactly, I wasn't too worried as it was really early, I was on blood thinners, and a higher bmi of 30, all of which can lead to an inconclusive result. Have you gotten your NIPT results back yet? 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. Inconclusive Panorama DNA test results! Normal chromosomes come. It's. Results in some cases may return inconclusive or uncertain. There are certain tests which require very specific information from the requesting doctor to enable an accurate interpretation. It can come with its own set of risks. Same happened to us. So sorry, the waiting is so tough. This usually happens when a, Non-Invasive Prenatal Baby Gender Blood Test. 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. Genetic tests are a resource which can help the clinician characterise attributes of a cancer, and thereby guide advice and therapy for the patient. Yes. I'll do my 3rd test at nearly 16 weeks. 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). We are part of Sonic Healthcare, an acknowledged world leader in the provision of diagnostic services, and Australias largest pathology provider. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. When did you have your NIPT done? We just got our results back and have a perfectly healthy . There are many reasons NIPT may not give a result. Acosta decided to take advantage of non-invasive pregnancy testing, or NIPT, a relatively new prenatal screening method. It's most likely the mosaicism, or a twin embryo that did not take. You can do an amnio. Inconclusive NIPT results. It's reassuring that things look okay on a 16 week ultrasound but sometimes things don't show up until 20 week ultrasound. Which according the clinical labs, they can taste at this rate. 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. I wish you and your baby boy all the best too! I'm not sure who it was but scroll back a bit and i'm sure you'll find it! 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. That means whatever caused no result the first time is still interfering with the test. Id love to know emma went. 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. 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? Just pooping in about the initial ratio1:10000 is fabulous! 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). 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. Clicking on the green -no result post flair- will bring up everyone who has also tagged their submission as no results/low fetal fractions and you can read up their stories/outcomes and responses (or any other topic that is common for NIPT results. Definitely something to bring up. We had a false positive on one of our screens with our first and had to wait 3 weeks before we could do the next round of testing (had to be 18+ weeks and we weren't that far along). Mine should** be in tomorrow or Friday. 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. Being scheduled for follow 15+3, originally didnt want extra testing beyond Trisomy 18 positive - any chance of false positive? 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. To help you get started read our. did east germany have money? Prediction of other SCA was more accurate. I believe the odds of retest are actually 5%? I believe she had it done only twice. I personally had it happen. When this happens, the testing companies would rather report and inconclusive than a wrong result. Did you get a conclusive test result in the end? I was very apprehensive about it, but my result came back fine. Thanks for sharing your story! Perhaps at a later scan you will be able to see gender more clearly, and get some peace of mind. the most helpful and trustworthy pregnancy and parenting information. During pregnancy, opting for a non-invasive prenatal test has become the norm. Then 12 week scan showed 3mm NT. Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. 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. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. Press J to jump to the feed. The inconclusive result was due to my fetal fraction being 4.4%. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. 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 . I had the test done and didn't have any issues with the results. Run by research scientists who are experts in human DNA diagnostics, we also offer express shipping services to reduce waiting time. Below this, the nipt returns the result "inconclusive." after the nipt results: Inconclusive sca an inconclusive sca. Repeated the test and no issues! . Show your support by. If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. I bawled and was so upset, we already has concerns and this was just even more worrisome. 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. The test can also determine the sex of the fetus. If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. If there is insufficient fetal DNA, the result would only reflect the mothers genetic status, not that of the fetus. 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. ), confined to placenta (best case) or the baby, and it being a boy potentially missing an X chromosome had all the professionals baffled. Hope you get some answers soon. They did not recommend further evaluation or testing with him. I read some said that could be a factor? Noninvasive prenatal testing (NIPT) has become a popular screening test for the most common fetal aneuploidies. Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. As of now I have no cardiac or kidney problems but I will see specialists when this baby is born just to be sure. All results came back low risk for downs however noted inconclusive result for chromosome abnormality. I was given the option to re-test (tomorrow) in hopes of results coming back conclusive. 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. 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. NIPT analyzes the mother's blood to assess the genetic makeup of a fetus . :). 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. If I could go back, I would skip the NT scan. Have you had the NT scan done? how to find the length of an oval track; how long to cook baked potato on grill; george pearsons house; distance from thunder bay to manitoba border Use of this site is subject to our terms of use and privacy policy. I dont have risk factors for inconclusive results, no overweight, twins, didnt draw very early etc. 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. Warning: fopen(/nfs/c05/h05/mnt/158483/domains/lomejordelboxeo.com/html/wp-content/uploads/wp-file-manager-pro/fm_backup/.htaccess): failed to open stream: Permission . 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. NIPT stands for noninvasive prenatal testing. 14/01/2022 22:06. I just retested yesterday since the company doesn't charge if it comes back inconclusive. 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. TX: IUI #1 with Follistim. Some radiologists like to comment on ALL the scans the technicians provided even the poor quality ones. 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. Non-Invasive Prenatal Testing (NIPT) is a screening test that examines small fragments of DNA (cell free DNA (cfDNA) which are released from the placenta. I had two inconclusive nipt tests at 12 and 13 weeks. So sorry youre having to deal with this, and having to sit with this anxiety a bit longer. 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. Hello! Noninvasive prenatal testing (NIPT) has become popular with many physicians in screening pregnant patients. Because NIPT consists of a simple blood test, it doesn't create a risk for you or your baby. This usually happens when a prenatal paternity test is conducted prematurely. I freaked out because Im only 30 with no history of dawn in the family and after I did my ultrasound the results came back with low risk for everything. Thank you, I am hoping it's just a silly lab error. Thanks, I'm still waiting! Anyone else have this come up? 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. 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. Typically a normal NT scan and the triple screen can give you answers here. The NIPT shows that I am high risk for Turner Syndrome with my baby girl. But yes anyway, I'm sure it will all be fine. Thank you for sharing your story as mine is very similar with yours. Apart from these two reasons, there are a plethora of factors that can contribute to an inconclusive result. Canceled due to too many follicles (10 + that were large); BENCHED. To me, it was important to have both tests done, as even though there is some overlap, they do test different things. Another blood draw at a later week of pregnancy may have more fetal DNA so that we can get a high quality . Don't despair if your grandmother's wisdom turns out to be little more than a good guess. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. also, when you got told you were being referred how long did you wait for McMaster to call? 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. Good luck! When the test is repeated, about 1 in 3 repeat NIPT samples comes back with no result. Thanks for sticking with us for a full year. Went back yesterday and did a redraw, and now I'm hoping this one takes. I could have written this myself. 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.
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