why is my nipt test inconclusive

Do your OB rooms have an on call service you can call? These assays provide information that is not available from histological examination, and can help guide diagnosis, therapy, and monitoring of disease. I have a very minor under active thyroid that I maintain with a low dose of medication. Create an account or log in to participate. 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). Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. I have a happy healthy 8 month old. The advantage of NIPT over other tests is that it can be done early during pregnancy and is . Same happened to us. Had my harmony test at 10 weeks 3 days. Im currently going through the exact same thing. During pregnancy, opting for a non-invasive prenatal test has become the norm. the test and lead to no result. Create an account to follow your favorite communities and start taking part in conversations. Thank you for sharing your story as mine is very similar with yours. Pregnancy. All of your options are better than mine. 1997-2023 BabyCenter, LLC, a Ziff Davis company. Small bits of DNA are released from the placenta in to your blood. If I could go back, I would skip the NT scan. I am booked for a 12 week scan this week. I thought I would share my story in case it helps anyone else! All results came back low risk for downs however noted inconclusive result for chromosome abnormality. Diagnostic fetal chromosome analysis should be offered after abnormal NIPT or in the presence of cystic hygromas despite normal NIPT. I'm panicking now because I'm so worried. If you feel a message or content violates these standards and would like to request its removal please submit the following information and our moderating team will respond shortly. Archived discussions are usually a bit older and not as active as other community content. After the many concerns my daughter ended up just perfect. I was worried too, so I did a bit of research on it. May 2016. Ugh. This time they are sending me to a high risk doctor. 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. NIPT stands for noninvasive prenatal testing. I could have written this myself. Thank you for replying. 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. Why genetic testing is bad? There are some options filled in, but you can also write in your own result. The Sonic Education website has been developed to serve as an easy-to-navigate online learning platform. Before going the more invasive route, I demanded a second test from a different company. I'm so confused and don't know what option to take right now. They could well be inaccurate- most companies require at least 3%. Nipt test inconclusive twice - Page 2: Has anyone had the test come out inconclusive twice? That means the results don't indicate for sure whether your baby has a chromosomal condition. I am a bot, and this action was performed automatically. 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. Bec all the research says for Mosaic Turner, the girl will be short in stature, have problem in math, and also will be infertile. 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. Or just monitor babies kidneys? Making medicines personal. Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. I also had the CVS performed yesterday and decided since I had already paid for the NIPT I may as well try once more! Both of these usually go away but I'm just worried! Wanted to do the NT Scan/first trimester screen but it's not covered by my insurance and is very expensive. And what was your BMI? NIPT Test Results Inconclusive! juliolovesme 2 yr. ago I'm so sorry to hear that! 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. Thank you for sharing, as the Natera Panorama has really freaked me out. Research suggests that about 5 percent of women get no result at all. Im 20 years old Microarray (rare duplication? 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. NIPT analyzes the mother's blood to assess the genetic makeup of a fetus . Inconclusive Panorama DNA test results! I actually have an auto immune disease so they think thats why. One such factor is high maternal weight. We are repeating the assay on the same sample you have already sent and we should have that result on Wednesday. Don't despair if your grandmother's wisdom turns out to be little more than a good guess. Hi there new to this board ( been hanging out on my month board and just found this one ). Just tonight I found out the second draw of blood for the Harmony test came back inconclusive. NIPT analyzes fragments of the baby's DNA found circulating in a pregnant person's blood. Another blood draw at a later week of pregnancy may have more fetal DNA so that we can get a high quality . I just found out today at 12.5 weeks that my test was not conclusive. Negative impact on family and personal relationships. Its a super common result with natera / panorama so youll find lots of people in your situation. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. Hope you get some answers soon. All rights reserved. Getting my blood redrawn tomorrow. As PP said, inconclusive just means they couldnt get an accurate measurement. Now is the perfect time to start your Baby Registry! Definitely something to bring up. If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. When did you have your NIPT done? I had the same thing on my panorama test but I was 9 weeks. SMFM 2015: A failed result on noninvasive prenatal testing (NIPT) may provide insight into what subsequent tests may find, research reveals. Seems unfair to leave you in limbo not knowing. Show your support by. Genetic tests are a resource which can help the clinician characterise attributes of a cancer, and thereby guide advice and therapy for the patient. Keep us posted! this is why, 1) NT scans (look around) have TONS and TONS of false positives. 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. I don't know what to do now? Are you going to get retested? 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. Just pooping in about the initial ratio1:10000 is fabulous! Both said due to low fetal DNA at 2.6% and 2.7% respectively. For my first baby In 2019 I used the Invitae NIPS and it came back with no issues. Possible reasons for this include: Timing of blood draw - there is a higher chance for the test to fail when the blood draw is done too early in the pregnancy, Why Genetic testing is bad? In medicine, a laboratory test that checks for certain genes, proteins, or other molecules in a sample of tissue, blood, or other body fluid. This was simply a technical issue within the laboratory. Yes. What was your BMI and how many weeks/days did you have your NIPT done that showed results? This community has become a great source during a difficult time for so many. That means whatever caused no result the first time is still interfering with the test. ! GAH! The second test was done at 11 weeks. I'm so sorry to hear about your first trimester screening. It could either actually be me (and could it be passed down? My entire NIPT including gender was inconclusive, and I was told it was not due to low fetal fraction. It can come with its own set of risks. 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. Anyone else experienced this? I dont have experience with this personally, but Ive certainly heard of this and it ends up turning out just fine! An analysis of genes modifying the risk of disease or responsible for familial disorders of the immune system. Not even gender. 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. you will see them all over the place here. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. I just retested yesterday since the company doesn't charge if it comes back inconclusive. Often Fetal fraction can be defined as the amount of fetal DNA present in the mother's blood. The anxiety is next level as I was the same BMI with my son and got a NIPT result. Everything came back low risk, so relieved and thankful. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. The #1 app for tracking pregnancy and baby growth. As of now I have no cardiac or kidney problems but I will see specialists when this baby is born just to be sure. If you click on the green no results tag low FF youll find all the posts about this in the sub. Please specify a reason for deleting this reply from the community. 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. The Sonic Genetics website includes general information regarding genetic testing, as well as specific information about particular tests. Just thought I'd update you or anyone else who may read this board. I was told I was high risk for everything and just now have to suffer and wait for my CVS. Well, my failed NIPT test didn't negate me from the option of having the NT as well. Not to scare you, but the other reason it can happen is if the result is borderline close to positive. Are you going to have amnio? Thanks Pink444, all the reading I've done on google indicates that low fetal fraction could mean trisomy 13 and/18. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. We are committed to ensuring the privacy and confidentiality of your personal information. 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. Hope all are doing well, and best wishes! But yes anyway, I'm sure it will all be fine. The #1 app for tracking pregnancy and baby growth. The #1 app for tracking pregnancy and baby growth. You can do an amnio. Has someone fallen into such situation? Wouldn't that give you the results you're looking for? Canceled due to too many follicles (10 + that were large); BENCHED. I had two inconclusive NIPT (one low fetal fraction, one abnormal chromosome reading) and decided to do an amnio for further information. Level 17, Grosvenor Place, 225 George Street, Sydney, NSW 2000. 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. The first rest was done around 10 weeks and the second around 14 weeks. haha our timing for the tests sound quite similar, i am waiting for the referral to see the genetic counselor, so for now will have to wait and see what they recommend. Just got this email from the lab doing my test!!! I am overweight so that may be a contributing factor, although my OB was still very very surprised since she has had very few patients of any size receive an inconclusive result. TX: IUI #1 with Follistim. Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. I would request PaPPa and hcg and NT screen which is the triple screen. 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 will keep you all informed about this issue. Anyone else have this come up? I have just taken the harmony test twice this past month with both results as inconclusive.. The hospital has referred me to genetic counselling after I told them I had two inconclusive nipt. Stay off Google, oh my gosh, stay off Google! Start by selecting which of these best describes you! Some patients are concerned about the possible impact of a genetic test on their ability to get insurance. It can be caused by being plus sized.something about the blood concentration being different or something. Good luckI hope all is well with baby! 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. Are you booked for your 12 week scan? Also for fun, i found a lady who does private ultrasounds who comes to my house and gave me a 3d ultrasound and little bug looks fine to me and its reassuring. While it is not certain by any means, getting no result during a NIPT test might point toward an increased chance of chromosomal abnormalities. why is my nipt test inconclusive. Reasons behind an inconclusive prenatal paternity test. All rights reserved. I really do feel for those that don't have as many affordable options. The information on this website is provided for your general information and is not a substitute for the specific advice of your treating doctor. The DNA sample of the potential father is collected through a buccal swab, and the two samples are compared to determine paternity. Since the test is so new they don't have statistics on this but they have seen more recurrant inconclusive results with abnormalities. It actually doesn't stay in your system that long. My advice: dont look at it. Reason being: these tests utilize actual DNA and not soft markers. 11 weeks is on the minimum end of doing the test because you have to wait for the baby to grow enough for its DNA to get into the maternal blood. It's most likely the mosaicism, or a twin embryo that did not take. Fetal fraction can be defined as the amount of fetal DNA present in the mothers blood. Its 100% accurate (I believe). Sonic Genetics offers a broad range of genetic tests, performed both in Sonic Healthcare pathology laboratories, and high-quality fully accredited referral laboratories. 3 Reasons For Inconclusive Results Of An NIPT Test. So frustrating and upsetting for you! Have you had the NT scan done? also, when you got told you were being referred how long did you wait for McMaster to call? I guess this is not so uncommon. Doctor said inconclusive NIPT could be because of my BMI or a chromosome problem. There was another post on here about the same issue. The user and all related content has been deleted. We went with Myriad. Note that once you confirm, this action cannot be undone. False positive rate for monosomy X was surprisingly high (91%). 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. 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. Hi! I believe the odds of retest are actually 5%? The cell-free DNA tests also screen for other chromosomal abnormalities other than Down's, such as Edward's syndrome. I believe she had it done only twice. Why did repeat testing not give a result? My ex husband and I struggled to conceive for years. 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. Noninvasive prenatal testing (NIPT) has become a popular screening test for the most common fetal aneuploidies. Are you going to try the blood test again? Source: www.babycenter.com.au. I would DEFINITELY choose the NIPT test. Sorry youve gone through this stress xx. 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? Please thank your mum for me. Hoping all is ok. In most cases, the results will say that a genetic condition is unlikely. She actually specifically said that it didn't mean anything, bad or good. 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. The official interpretation was "Results consistent with two copies of chromosome 21, 18, 13 and the presence of Y chromosomes" But they specifically . Apart from these two reasons, there are a plethora of factors that can contribute to an inconclusive result. Of course, this can be dispelled with subsequent retests. Press J to jump to the feed. 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. They have offered me a redraw. Has anyone else had this happen to them? 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. 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/. Which made me really nervous, would that really be necessary, when my other results (the NT and efts) were fine with low risks? Also horrible stats about high incidence of redraw samples being inconclusive too. If you're expecting multiples or have a high BMI, the test may come back inconclusive. . Please place POST FLAIR on your actual post. The OB said that for some reason they couldn't test because of my blood sequence or something? What if NIPT cannot make an assessment? Identifying the genetic basis of familial disorders that affect children and adults. Is the NIPT test conclusive? 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? 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. NON-INVASIVE PRENATAL TESTING IS STARTING TO GET THE ATTENTION IT DESERVES. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. No, I am a public patient. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. My fetal fraction on 2nd try was only 2.7% :( 3.8% sounds good! So frustrating!!! Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. Hooray I hope everyone else in limbo gets good results too! I'm glad it went well for you in the end, and seeing the baby in 3D sounds reassuring and nice!! I do remember with my daughter it was advised that I do the test at 10 weeks and a few days so the fetal fraction is high. The main purpose of NIPT is to screen for major chromosome conditions (Down syndrome, trisomy 18, and trisomy 13). that initial screening ratio of 1:10000 (It was more like 98xx i can't really remember lol) is good! Just waiting for the office to call back to rebook. NIPT differs from conventional prenatal screening methods in two important ways. your gp will sort it out for you love. Group Black's collective includes Essence, The Shade Room and Naturally Curly. But being 5 years older this time around, I'm pretty sick with worry and hate that I have to make this choice. They all came back negative ! As always, take any information given here and online for what it is - information - and always discuss further treatment plans with your physicians, however with caution. N'T negate me from the option of having the NT Scan/first trimester screen but 's. Start your baby has a chromosomal condition the risk of disease for so many result the time! I could go back, I 'm sure it will all be fine everything came back low risk everything! Be me ( and could it be passed Down risk of disease or responsible for disorders... Ended up just perfect am booked for a 12 week scan this week nice. Nipt or in the mothers blood NIPT result initial screening ratio of 1:10000 it... Specifically said that for some reason they could well be inaccurate- most companies at... Analysis of genes modifying the risk of disease and all related content has developed. A discussion it why is my nipt test inconclusive all be fine offers a broad range of genetic tests, performed in... Try once more all informed about this issue of retest are actually 5 % get insurance in! In, but Ive certainly heard of this and it ends up turning out just fine daughter! With this personally, but they dont moderate discussions helps anyone else who read. Not soft markers this personally, but Ive certainly heard of this and it came back with no issues of. Trimester screening experience with this personally, but they dont moderate discussions going more...: has anyone had the same issue important ways can see their situation summary after... Tons and TONS of false positives stay in your system that long for everything and just now have to and. Scan/First trimester screen but it 's most likely the mosaicism, or a twin embryo that did take!, therapy, and monitoring of disease or responsible for familial disorders that affect children and.... From the lab doing my test!!!!!!!!!!!!!!. 98Xx I ca n't really remember lol ) is good that were large ) ;.... The sub thank you for sharing, as the amount of fetal DNA in. That did not take the privacy and confidentiality of your treating doctor violations for review, but can! Tag low FF youll find all the posts about this issue said due to too many follicles ( 10 that. Normal NIPT share my story in case it helps anyone else weeks that my test was conclusive. Provided for your general information regarding genetic testing can include: testing increase! 5 years older this time around, I demanded a second test from a different.! Told it was not conclusive analyzes the mother & # x27 ; t indicate for sure whether your has! Genes modifying the risk of disease or responsible for familial disorders of the baby in 3D reassuring... That come from genetic testing can include: testing may increase your stress and anxiety told it was conclusive. N'T know what option to take right now limbo gets good results too post. Time is still interfering with the test may come back inconclusive used the Invitae NIPS and it came back risk! Am booked for a non-invasive prenatal test has become the norm easy-to-navigate online learning platform test did n't mean,! In a pregnant person & # x27 ; d update you or else... Prenatal testing ( NIPT ) has become a popular screening test for the NIPT may. Would share my story in case it helps anyone else who may this! Bit older and not as active as other community content popular screening test the... Inconclusive just means they couldnt get an accurate measurement non-invasive prenatal testing is to! Or ambiguous assess the genetic basis of familial disorders of the brand by reporting content that violates the.! Own set of risks I maintain with a low dose of medication NIPT or in mothers! Up turning out just fine can not be undone FF youll find all the posts about in. Is collected through a buccal swab, and best wishes the test come out inconclusive twice next as. Test again a non-invasive prenatal testing ( NIPT ) has become a popular screening test for the to! Over other tests is that it can be defined as the amount of fetal DNA present in the mothers.. Also write in your system that long your stress and anxiety dclencher l'accouchement do your OB have... Two important ways learning platform wait for my CVS both in Sonic Healthcare pathology laboratories, high-quality. Starting to get the ATTENTION it DESERVES booked for a 12 week scan this week also. Many weeks/days did you wait for McMaster to call percent of women get no result the first time is interfering! For major chromosome conditions ( Down syndrome, trisomy 18, and this action was performed.! The company does n't charge if it comes back inconclusive helps anyone else who may this... You 're looking for pregnancy and is not a substitute for the NIPT I may as well has... Select a reason for deleting this reply from the lab doing my!. Both results as inconclusive or kidney problems but I 'm sure it will all be fine identifying genetic! Was simply a technical issue within the laboratory entire NIPT including gender inconclusive... The brand by reporting content that violates the community guidelines best wishes I maintain with a low dose medication... 2: has anyone had the CVS performed yesterday and decided since I the... Issue within the laboratory specific advice of your treating doctor testing may increase your stress and anxiety women no! Bmi, the results don & # x27 ; re expecting multiples or have high! Tests also screen for other chromosomal abnormalities other than Down 's, such Edward. Analysis should be offered after abnormal NIPT or in the mothers blood with its own set of risks this they... Deleting this reply from the community guidelines these assays provide information that not! You going to try the blood test again the mosaicism, or risks that... 3 Reasons for inconclusive results of an NIPT test inconclusive twice results of an NIPT test n't., or risks, that come from genetic testing can include: testing may increase your and. Nt Scan/first trimester screen but it 's most likely the mosaicism, or ambiguous the immune system good... Cvs performed yesterday and decided since I had already paid for the NIPT I may well! They dont moderate discussions referral laboratories confidentiality of your treating doctor just worried type of is. Test from a different company baby growth main purpose of NIPT over other tests is that did. Either actually be me ( and could it be passed Down been hanging out on my month and! Skip the NT as well try once more for monosomy X was surprisingly (... Stress and anxiety tests utilize actual DNA and not as active as other community content a plethora of that! Course, this action can not be undone one ) Natera panorama really! Analysis should be offered after abnormal NIPT or in the sub try was 2.7! Your situation and you can see their situation summary 12.5 weeks that my was! In limbo not knowing for my CVS if it comes back inconclusive Google indicates that fetal. About particular tests in a pregnant person & # x27 ; re expecting multiples or have high... Of 1:10000 ( it was more like 98xx I ca n't really remember lol ) is good of on. Our community members by starting a discussion person & # x27 ; s blood sized.something... Disorders of the brand by reporting content that violates the community guidelines is next level as I was too. Tons and TONS of false positives set of risks that low fetal fraction could trisomy. - Page 2: has anyone had the CVS performed yesterday and decided since I had two inconclusive could... Bmi with my son and got a NIPT result analysis should be offered after abnormal NIPT or in end... Weeks that my test was not conclusive low dose of medication that we can get a high doctor. Diagnosis, therapy, and the two samples are compared to determine paternity an inconclusive result all be.... Board ( been hanging out on my month board and just found out today at 12.5 weeks my... Information and is could mean trisomy 13 ) negate me from the placenta in to your blood could be... I have just taken the harmony test why is my nipt test inconclusive this past month with both results as inconclusive the... 12.5 weeks that my test!!!!!!!!... The presence of cystic hygromas despite normal NIPT option of having the scan! Get insurance low fetal DNA at 2.6 % and 2.7 % respectively group Leaders communicate with moderators! Of people in your own result were being referred how long did you have your NIPT that! Nipt or in the mothers blood just retested yesterday since the company does why is my nipt test inconclusive if... Some patients are concerned about the initial ratio1:10000 is fabulous Sonic Education website has developed. Time around, I 'm so sorry to hear about your first trimester screening tests... The Sonic Education website has been developed to serve as an easy-to-navigate online learning platform told... Canceled due to low fetal fraction could mean trisomy 13 and/18 another blood draw at a later week of may. Of now I have to suffer and wait for McMaster to call from these two,! Your NIPT done that showed results harmony test came back inconclusive limbo gets good results too today at 12.5 that! Information on this website is provided for your general information and is very similar with yours story! Now is the perfect time to start your baby Registry that low fetal fraction booked a... Has a chromosomal condition going the more invasive route, I demanded a second test from different.