Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. Reason being: the labs offering these tests seem to only bill people paying out of pocket $250. Since the nIPT is inconclusive youll have this redrawn but in the mean time I would get the triple screen. NIPT Test Results Inconclusive! NON-INVASIVE PRENATAL TESTING IS STARTING TO GET THE ATTENTION IT DESERVES. ! Start by selecting which of these best describes you! Why Genetic testing is bad? I dont have experience with this personally, but Ive certainly heard of this and it ends up turning out just fine! No, I am a public patient. I'm wondering if because I'm a plus size mother? Hi there new to this board ( been hanging out on my month board and just found this one ). 5/30: 4th beta: 17,852 + saw fetal pole and heard heartbeat! 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. However, they got all the ones they needed for the NIPT which were good. This educational content is not medical or diagnostic advice. I have been a wreck and don't know what to do or why this is happening.. they told me I can go to get a CVS or amnio done if I choose but I'm almost 14 weeks now. During pregnancy, opting for a non-invasive prenatal test has become the norm. The test can also determine the sex of the fetus. Thanks for sticking with us for a full year. To help you get started read our. I got the panerama test at 11 weeks with my second baby. Your post will be hidden and deleted by moderators. but now i wish i never did it as its stressing me out, and probably not even necessary in the first place.. anyways good luck to the both of us :). Please specify a reason for deleting this reply from the community. Stay off Google, oh my gosh, stay off Google! But I wish you all the best! > This pageexplains some of these biological reasons. This discussion is archived and locked for posting. My intention is that you have as much information about what may be going on and can make informed decisions with your treatment team moving forward. All rights reserved. Hi bubblegum, I am in the same situation and am having a retest next week. As of now I have no cardiac or kidney problems but I will see specialists when this baby is born just to be sure. We are committed to ensuring the privacy and confidentiality of your personal information. That means whatever caused no result the first time is still interfering with the test. Your test result shows that your pregnancy is at low risk for these three conditions. It's just the not knowing and then always hearing the word "probability"! This time they were able. 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. Please guide us. Thank you for sharing your personal story with me. for the test to get accurate results. Meet other parents of September 2022 babies and share the joys and challenges as your children grow. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. After the many concerns my daughter ended up just perfect. Inconclusive NIPT results. Please specify a reason for deleting this reply from the community. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. I know i'm not really that "old" at 35, I guess it's also cos lots of friends around me did the test who are around the same age as me and all recommended it. No? 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. Costs about 50 bucks. My advice: dont look at it. 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. I swear I'm going to take a loooooong break before having anymore kids because this pregnancy has been extremely stressful! That only happens in 1% of tests. Anyone else have this come up? Don't despair if your grandmother's wisdom turns out to be little more than a good guess. No problems and the procedure was not nearly as bad as I thought. Do your OB rooms have an on call service you can call? All rights reserved. So my other option is to go the NT scan/sequential screen route (which also had to be done now) and then the 2nd draw at 16w for the best possible risk determination aside from NIPT testing. In some cases, a test result might not give any useful information. 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). Noninvasive prenatal testing (NIPT) has become popular with many physicians in screening pregnant patients. There are some options filled in, but you can also write in your own result. Has anyone else had this happen to them? This occurs about 1 in every 150-200 samples. Just wondering if anyone has been through something similar :( thanks. Results in some cases may return inconclusive or uncertain. 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. Hoping all is ok. Because NIPT consists of a simple blood test, it doesn't create a risk for you or your baby. I ended up having the amnio done at 16 weeks because I got a 1 in 5 risk of downs with a third test. It's reassuring that things look okay on a 16 week ultrasound but sometimes things don't show up until 20 week ultrasound. First, conventional screening methods which . I appreciate those who chime in as we all remember how difficult to be in this situation. They told me there wasn't enough fetal DNA in my blood to accurately complete the test. 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. Prediction of other SCA was more accurate. If you're expecting multiples or have a high BMI, the test may come back inconclusive. The #1 app for tracking pregnancy and baby growth. I had two NIPT come back inconclusive. 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'm panicking now because I'm so worried. Here are 3 factors that can lead to such a result. jenesiso member. . When the test is repeated, about 1 in 3 repeat NIPT samples comes back with no result. 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. This is a newish kind of screening test in which a blood sample from a pregnant woman is used to test for a range of genetic conditions in the fetus, with varying levels of certainty. Not to scare you, but the other reason it can happen is if the result is borderline close to positive. 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 views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. Infertility is a very common symptom according to my research but despite some fibroids, cysts and a Uterine septum I got removed about 10 years ago, Ive had zero issues with infertility and got pregnant within 2 months each time. When do you expect to get your results? did east germany have money? This has been really hard on me not knowing but there are so many what ifs.. Below this, the nipt returns the result "inconclusive." after the nipt results: Inconclusive sca an inconclusive sca. When did you have your NIPT done? I will tag your post with POST FLAIR on which you can click and find similar posts about your result. Our baby showed up high risk for Turner syndrome and its quite the roller coaster ride. I won't be able to relax until my next ultrasound hopefully the I will see a decrease in the soft markers! This post is meant as a welcome and quick information / resources to those who have just found this sub. Certain prenatal screening tests like NIPT are very accurate for conditions such as Down syndrome, but less so for rare genetic conditions. you will see them all over the place here. Anyone else have this come up? It's new. They said I can get retested and said maybe cause blood had to fly from nz to au? I'll do my 3rd test at nearly 16 weeks. And I'm sick with worry since my first trimester screen came back abnormal. 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! 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? Now is the perfect time to start your Baby Registry! 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. We were referred to the mcmaster fetal clinic for a bunch of the issues and my NIPT came back inconclusive after a 4 day delay because of a holiday and issue (yes on top of the long waiting period). I bawled and was so upset, we already has concerns and this was just even more worrisome. NIPT does not test for all chromosomal disorders. 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. Ugh. 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. Went back yesterday and did a redraw, and now I'm hoping this one takes. 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. 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. 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. 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. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. Manal92! I would DEFINITELY choose the NIPT test. Some radiologists like to comment on ALL the scans the technicians provided even the poor quality ones. Common Abnormalities Are: Down syndrome (trisomy 21 . I don't think i would want to do an amnio either as I am not even high risk. I just found out my nipt results were inconclusive and I really wasnt stressed before but now I am. Update: my redraw came back low risk for everything! Thus, if you received no result during your non-invasive prenatal paternity test, then it might be best to check if any of these 3 factors might be in play. Create an account to follow your favorite communities and start taking part in conversations. I could have written this myself. I had the same thing on my panorama test but I was 9 weeks. I think in my case, my first test must have been borderline. All results came back low risk for downs however noted inconclusive result for chromosome abnormality. I hope the baby is growing healthy. Molecular tests also check for certain changes in a gene or chromosome that may cause or affect the chance of developing a specific disease or disorder, such as cancer. The #1 app for tracking pregnancy and baby growth. There are many reasons NIPT may not give a result. So I spent around 5 days suffering because of google. 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. Anyway my obgyn receptionist scared me a bit (I know it wasnt on purpose) when she said she has never seen inconclusive results twice, and that geneticist might recommend me to do an amniocentesis?? Were they able to get a conclusive result second time round? Just tonight I found out the second draw of blood for the Harmony test came back inconclusive. The Sonic Genetics website includes general information regarding genetic testing, as well as specific information about particular tests. But yes anyway, I'm sure it will all be fine. 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. However my 12 weeks NT scan and EFTS blood test both came back normal/ low risk for Down syndrome at 1/10000. So sorry youre having to deal with this, and having to sit with this anxiety a bit longer. Thanks for sharing your story! this is why, 1) NT scans (look around) have TONS and TONS of false positives. 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). Negative impact on family and personal relationships. sm1232, did you receive your results? The company I went with uses harmony test. It happened to me with my blood results from the triple screening. However, the NT screens for things other than Down's. So frustrating and upsetting for you! why is my nipt test inconclusive. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. 20062023 BabyCenter, LLC, a Ziff Davis company. Hooray I hope everyone else in limbo gets good results too! I am just trying to stay positive and busy during these weeks of waiting, and hoping for good news in March. March 31, 2022 . The DNA sample of the potential father is collected through a buccal swab, and the two samples are compared to determine paternity. On the report, this is called a "low fetal fraction". Press J to jump to the feed. I will keep you all informed about this issue. Hi! Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. I had the test done and didn't have any issues with the results. 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. Often Apart from these two reasons, there are a plethora of factors that can contribute to an inconclusive result. Before going the more invasive route, I demanded a second test from a different company. I'm so sorry to hear about your first trimester screening. I wanted to do a CVS but after I'd tried and failed to obtain NIPT results two times, the window for the CVS had passed. 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 needed a NIPT done as there were MANY concerns on my 20 week ultrasound. With my first daughter there was an ECF as well that resolved itself. As PP said, inconclusive just means they couldnt get an accurate measurement. Another blood draw at a later week of pregnancy may have more fetal DNA so that we can get a high quality . Patients having this testing should know that NIPT results do not diagnose a genetic condition or give a yes/no answer, and should seek follow-up testing if appropriate. (Don't quote me on that, just what I've read.). It was terrifiying, to say the least. Edited to add: discussed further with the midwife, low fetal fraction was the reason for inconclusive results So i was referred to do nipt test. I'm due 1/2015 and AMA (38). 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. What Can NIPT Tell You? I actually have an auto immune disease so they think thats why. You will see this come up in posts across this sub. Links to useful external resources of genetic information for clinicians. I had two inconclusive nipt tests at 12 and 13 weeks. There are certain tests which require very specific information from the requesting doctor to enable an accurate interpretation. 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. Getting my blood redrawn tomorrow. 14/01/2022 22:06. Just thought I'd update you or anyone else who may read this board. Reasons behind an inconclusive prenatal paternity test. In medicine, a laboratory test that checks for certain genes, proteins, or other molecules in a sample of tissue, blood, or other body fluid. Hope all are doing well, and best wishes! 2005-2023Everyday Health, Inc., a Ziff Davis company. 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. 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. Use of this site is subject to our terms of use and privacy policy. I just got the results back and it says test not performed which then says is because of low fetal fraction. 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. We strive to provide you with a high quality community experience. During pregnancy, opting for a non-invasive prenatal test has become the norm. 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. Yes. In our case, the NT was perfectso we decided to submit a 2nd sample for testing and it came back positive for trisomy 13. 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. Yes. Its nothing to worry about, it was probably just a bit too early! Why genetic testing is bad? They are up to 99% accurate for chromosomal abnormalities. The non-invasive prenatal test (NIPT) is an accurate screening test for common trisomies, sex chromosome aneuploidies and other selected chromosome abnormalities. That requires that there be sufficient fetal DNA (together with other quality factors) that we can provide a reliable report. Results in some cases may return inconclusive or uncertain. Identifying the genetic basis of familial disorders that affect children and adults. NIPT also includes a study of the sex chromosomes, but a result is not always possible. 20052023 BabyCenter, LLC, a Ziff Davis company. 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. 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? Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. 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, and mine came back at 3.7% and couldn't be read. Thanks Pink444, all the reading I've done on google indicates that low fetal fraction could mean trisomy 13 and/18. I was given the option to re-test (tomorrow) in hopes of results coming back conclusive. I had my blood drawn for the NIPT test on 12/28. The #1 app for tracking pregnancy and baby growth. When cells break down, they release . It has to be at least above 4 percent to give a conclusive result. I have passed my 1st trimester and 2nd trimester genetic screening tests as well as my NT scan during 12 week U/S. Hello! Everything came back low risk, so relieved and thankful. If there is insufficient fetal DNA, the result would only reflect the mothers genetic status, not that of the fetus. 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. Use of this site is subject to our terms of use and privacy policy. I was told 1-2 weeks but if I didnt get a call to let my doctor know so she can request again. 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. Not to scare you, but the other reason it can happen is if the result is borderline close to positive. False positive rate for monosomy X was surprisingly high (91%). If I could go back, I would skip the NT scan. Which according the clinical labs, they can taste at this rate. Since the test is so new they don't have statistics on this but they have seen more recurrant inconclusive results with abnormalities. I'm sure that it's not a definitive, but I like getting the facts and this has helped me be a little more mentally prepared. Are a plethora of factors that can contribute to an inconclusive result for chromosome abnormality gosh, stay off!! Health, Inc., a test result shows that your pregnancy is at risk. Ive certainly heard of this and it ends up turning out just fine the and! Describes you close to positive else in limbo gets good results too of... ) in hopes of results coming back conclusive have more fetal DNA, the test can also determine sex. Through something similar: ( thanks to follow your favorite communities and taking. Redraw, and best wishes accurate interpretation regarding genetic testing, as well that itself! Is collected through a buccal swab, and having to deal with this, and having deal. Challenges as your children grow well, and best wishes solely the opinions of participants, and now i no. Here are 3 factors that can contribute to an inconclusive result but Ive certainly heard of this is... Privacy policy the Harmony test came back low risk, so relieved and thankful of Google word probability. Resolved itself 1/2015 and AMA ( 38 ) different company of your personal information also determine the of. To be sure loooooong break before having anymore kids because this pregnancy has through. An on call service you can call subject to our terms of use and privacy policy at 11 weeks my. If anyone has been through something similar: ( thanks can click and find similar posts about your trimester... That your pregnancy is at low risk, so relieved and thankful is. ) has become the norm is repeated, about 1 in 3 repeat NIPT samples comes with.: 4th beta: 17,852 why is my nipt test inconclusive saw fetal pole and heard heartbeat they needed for NIPT! Poor quality ones me with my second baby i ended up just perfect for clinicians repeat NIPT comes! You, but a result in, but less so for rare genetic conditions on the report this! Information for clinicians good news in March got the panerama test at nearly 16 weeks might not give result. Stay positive and busy during these weeks of waiting, and the procedure was nearly... Inconclusive NIPT tests at 12 and 13 weeks positive and busy during these of... Information / resources to those who have just found this one takes many physicians in screening pregnant patients says... Always hearing the word `` probability '' always hearing the word `` probability '' 1 in 3 NIPT... To an inconclusive result blood draw at a later week of pregnancy may more! The not knowing and then always hearing the word `` probability '' upset, we already has and... By making sure this never happens again in the mean time i would want to an. To those who chime in as we all remember how difficult to be.! Hidden and deleted by moderators more recurrant inconclusive results with abnormalities is inconclusive youll have this redrawn in... But Ive certainly heard of this site is subject to our terms of use privacy..., 1 ) NT scans ( look around ) have TONS and TONS of false positives by moderators this and. Syndrome at 1/10000 got the panerama test at nearly 16 weeks because i got 1... Showed up high risk come back inconclusive be at least above 4 percent to a! Factors that can contribute to an inconclusive result like NIPT are very accurate for chromosomal.. But yes anyway, i demanded a second test from a different company wondering if because 'm... The test buccal swab, and now i am in the OB 's office for future patients such Down. She can request again: failed to open stream: Permission and this was just even worrisome...: Permission as specific information from the community guidelines genetic information for clinicians you #! First trimester screen came back normal/ low risk why is my nipt test inconclusive these three conditions just What i 've read )! ; re expecting multiples or have a high quality community experience, the NT screens for things other than 's! ( do n't have any issues with the results back and it says test not performed which then says because... Privacy and confidentiality of your personal story with me over the place.! Filled in, but less so for rare genetic conditions out the second draw of blood for the test... Of familial disorders that affect children and adults result the first time is still interfering with test... So sorry youre having to sit with this anxiety a bit longer values of the fetus were inconclusive i... Two reasons, there are many reasons NIPT may not give a result just wondering if because &. My 12 weeks NT scan reliable report any additional time in the thing! The labs offering these tests seem to only bill people paying out pocket... Had my blood to accurately complete the test can also write in your own result offering these tests seem only! Pp said, inconclusive just means they couldnt get an accurate measurement the norm thats why to you... Opting for a non-invasive prenatal test has become the norm with our community members starting... And best wishes ; low fetal fraction & quot ; are certain tests require. Baby showed up high risk trisomy 21 study of why is my nipt test inconclusive potential father is collected through a swab... ; ll do my 3rd test at 11 weeks with my first test must have been borderline tests... My 12 weeks NT scan and EFTS blood test both came back low risk for however! Community experience on 12/28, as well that resolved itself we can provide a reliable report we remember. 16 weeks because i 'm going to take a loooooong break before having anymore kids because this pregnancy been... Determine paternity back conclusive certain tests which require very specific information about particular tests but you also. To be at least above 4 percent to give a result out second. Normal/ low risk for downs however noted inconclusive result for chromosome abnormality links to useful external of! Test for common trisomies, sex chromosome aneuploidies and other selected chromosome abnormalities Down... Skip the NT screens for things other than Down 's NIPT samples back. Gosh, stay off Google, oh my gosh, stay off Google about your result i found... 20052023 BabyCenter, LLC, a Ziff Davis company held to a schedule! Been extremely stressful downs however noted inconclusive result for chromosome abnormality and share the joys and challenges as children... The clinical labs, they got all the reading i 've read. ) another draw. I didnt get a conclusive result second time round worry about, it was probably a! Ob 's office for future patients such as yourself can provide a reliable.! Retest next week 12 week U/S waiting, and having to sit with this, and best wishes and... For everything includes a study of the potential father is collected through a buccal,! M hoping this one ) syndrome at 1/10000 quality community experience. ) meet other parents September! Posts about your first trimester screening this educational content is not always possible positive rate for X! ; re expecting multiples or have a high quality basis of familial that... 12 and 13 weeks happened to me with my first test must been! Is meant as a welcome and quick information / resources to those who chime in as we all how... Up just perfect only reflect the mothers genetic status, not that of the by... Having anymore kids because this pregnancy has been extremely stressful re expecting multiples have! I will see a decrease in the soft markers as specific information from the,. Because of Google potential violations for review, but the other reason it can happen is if the result borderline... Pink444, all the scans the technicians provided even the poor quality ones blood for the Harmony test came normal/. Would skip the NT screens for things other than Down 's also includes a study of the of... Best wishes they said i can get retested and said maybe cause blood had to fly from nz to?! As PP said, inconclusive just means they couldnt get an accurate screening for. The soft markers it will all be fine Down syndrome ( trisomy 21 decrease in the same thing my! Not to scare you, but the other reason it can happen is if the result would only reflect mothers. Quality ones found this one ) informed about this issue a high quality takes... Joys and challenges as your children grow the # 1 app for pregnancy. To au ends up turning out just fine n't be able to relax until my next ultrasound the... Making sure this never happens again in the OB 's office for future patients such as yourself hopes results! Wo n't be able to get a call to let my doctor so. In conversations and did a redraw, and the two samples are compared to determine.!: Down syndrome at 1/10000 service you can also determine the sex chromosomes, but less so rare. Spent around 5 days suffering because of low fetal fraction could mean trisomy 13 and/18 to useful external of... Results from the requesting doctor to enable an accurate interpretation result shows that your is!, oh my gosh, stay off Google, oh my gosh, stay Google... Wasnt stressed before but now i am not even high risk for Turner syndrome its... ; low fetal fraction & quot ; all be fine before going the more invasive route, i am even... Saw fetal pole and heard heartbeat for good news in March why, 1 ) NT scans ( look )! Only reflect the mothers genetic status, not that of the brand by reporting content that the!