why is my nipt test inconclusive

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. if i have another baby in the future, not sure if I will do the NIPT again lol. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. 2005-2023Everyday Health, Inc., a Ziff Davis company. All rights reserved. I had two inconclusive nipt tests at 12 and 13 weeks. Anyone else have this come up? . 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. The waiting is almost unbearable. Please read top 2 pinned posts & automod message for information about the screen and your result. Is the NIPT test conclusive? Just tonight I found out the second draw of blood for the Harmony. Diagnostic fetal chromosome analysis should be offered after abnormal NIPT or in the presence of cystic hygromas despite normal NIPT. It can come with its own set of risks. 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. 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/. Please thank your mum for me. To help you get started read our. Also horrible stats about high incidence of redraw samples being inconclusive too. Archived discussions are usually a bit older and not as active as other community content. Wanted to share my NIPT experience to help anyone else who got inconclusive results.I first took my NIPT test at 10 weeks on Sept. 30. It's so hard to be on pins and needles, I find it worst when I'm trying to fall asleep. Noninvasive prenatal testing (NIPT), is a screening test for determining the risk of certain chromosomal abnormalities in the fetus. 2005-2023Everyday Health, Inc., a Ziff Davis company. If you click on the green no results tag low FF youll find all the posts about this in the sub. Babies can be born with a change Sorry youve gone through this stress xx. PlayRightParent 11.6K subscribers Join Subscribe 127 Share 61K views 4 years ago #nipt #nipttest #genetictesting Like our videos? Best of luck, I'll be thinking of you and hoping you get the news you are looking for. The information on this website is provided for your general information and is not a substitute for the specific advice of your treating doctor. Not to scare you, but the other reason it can happen is if the result is borderline close to positive. Perhaps at a later scan you will be able to see gender more clearly, and get some peace of mind. It's most likely the mosaicism, or a twin embryo that did not take. For some patients, however, results are not reported because of laboratory technical issues such as low fetal fraction and sequencing failures. It lead to 3 weeks of PURE hell. Please guide us. , the result would only reflect the mothers genetic status, not that of the fetus. This post is meant as a welcome and quick information / resources to those who have just found this sub. Apparently some places will do your test when theyre not supposed to. Makes me worried about why they can't pick up enough fetal DNA. unfortunately, I called the company and they won't give me any information! thank you for sharing your story. Edited to add: discussed further with the midwife, low fetal fraction was the reason for inconclusive results Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. I wouldn't bet on the NT measurements to guide you. 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. Now I am in limbo awaiting to see what happens next. When the test is repeated, about 1 in 3 repeat NIPT samples comes back with no result. I would DEFINITELY choose the NIPT test. Press J to jump to the feed. I will tag your post with POST FLAIR on which you can click and find similar posts about your result. 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. Learn more about, Twins & Multiples: Your Tentative Time Table. 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. Links to useful external resources of genetic information for clinicians. After the many concerns my daughter ended up just perfect. Or just monitor babies kidneys? The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. Just tonight I found out the second draw of blood for the Harmony test came back inconclusive. 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. Learn more about. Update: I did the redraw and got my results back yesterday. 20052023 BabyCenter, LLC, a Ziff Davis company. So frustrating and upsetting for you! March 31, 2022 . In some cases, a test result might not give any useful information. Thanks, I'm still waiting! 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. 14/01/2022 22:06. Stay off Google, oh my gosh, stay off Google! 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. I hope your 3rd test will give you the 4% you need! Here are 3 factors that can lead to such a result. I just got referred to McMaster as well with a high risk FTS scan/blood work. 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/. 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. 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. But I'm still a nervous wreck! 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. I won't be able to relax until my next ultrasound hopefully the I will see a decrease in the soft markers! 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. MaterniT21 positive for Down Syndrome. There are a few other reasons for odd results. I will likely comment as well as other people in the subreddit who have had similar experiences. I'm sure it's just there to drive us insane! It definitely makes me feel better with whatever the outcome may be. Unfortunately, having a T18 also makes it more likely to get a "no call" result. False positive rate for monosomy X was surprisingly high (91%). A failed test result will only be reported after testing of both samples) Inconclusive result. NIPT differs from conventional prenatal screening methods in two important ways. Note that once you confirm, this action cannot be undone. Thank you, I am hoping it's just a silly lab error. 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. They need 4% (DNA?) Contact us today to learn more about everything that we can do for you. and mine came back at 3.7% and couldn't be read. Below this, the nipt returns the result "inconclusive." after the nipt results: Inconclusive sca an inconclusive sca. 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. Pregnancy. Are you going to get retested? When cells break down, they release . No NIPT test is accurate below 3.5%. 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. Now is the perfect time to start your Baby Registry! why is my nipt test inconclusive. Create an account or log in to participate. Here is a list of the most common questions we are asked. To help you get started read our. This was simply a technical issue within the laboratory. NIPT is commonly used for chromosomal disorders that are caused by the presence of an extra (triploidy) or missing copy (aneuploidy) of a chromosome. Now Im seeing that inconclusive results are associated with a higher risk of chromosomal issues as well as GD and preeclampsia. I'm only 24, with two previous healthy pregnancies & babies. 2) NIPT tests are more accurate and test for MORE genetic disorders (they also tell you sex, if you want to know). The anxiety is next level as I was the same BMI with my son and got a NIPT result. I just found out today at 12.5 weeks that my test was not conclusive. Easy to overthink (I sure did) and assume the worst - feels like Sod's law at the . 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. So frustrating!!! to help the technology advance more with this newer test. Hey there, thank you for visiting the sub. I got the panerama test at 11 weeks with my second baby. I had the first level bloodwork and NT scan and they came back normal. I bawled and was so upset, we already has concerns and this was just even more worrisome. Group Black's collective includes Essence, The Shade Room and Naturally Curly. Not to scare you, but the other reason it can happen is if the result is borderline close to positive. I got the results yesterday and another inconclusive. Do your OB rooms have an on call service you can call? I needed a NIPT done as there were MANY concerns on my 20 week ultrasound. We are repeating the assay on the same sample you have already sent and we should have that result on Wednesday. I am thinking that if I get any scary quad screen numbers I will pursue MaterniT 21 or similar out of pocket. your gp will sort it out for you love. 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. (High HCG, low PAAP-A, normal nuchal translucency.) We strive to provide you with a high quality community experience. I'm sorry to hear that! I'm 37 years old and his is my second baby. The NIPT shows that I am high risk for Turner Syndrome with my baby girl. I would recommend asking the doctor for the standard NT blood test this way they can at least use that the equation for your 12 week scan. Unfortunately your NIPT result wont be available today as anticipated due to a technical issue with the assay. The first draw I did at 12 weeks and second draw did at around 13 weeks 6 days. The inconclusive result was due to my fetal fraction being 4.4%. This updates the flair on your username IN THIS SUB ONLY. Level 17, Grosvenor Place, 225 George Street, Sydney, NSW 2000. Why genetic testing is bad? It's so crazy! There are many reasons NIPT may not give a result. Some chromosome conditions NIPT cannot screen for include: Heart defects Abdominal wall defects Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. It's new. Yes. 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. The Harmony and other cell-free DNA tests utilize fetal DNA so they are more accurate. THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. Im 20 years old Microarray (rare duplication? :). The #1 app for tracking pregnancy and baby growth. Manal92! 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. Hoping all is ok. The cell-free DNA tests also screen for other chromosomal abnormalities other than Down's, such as Edward's syndrome. What Does NIPT Not Test For? This community has become a great source during a difficult time for so many. Run by research scientists who are experts in human DNA diagnostics, we also offer express shipping services to reduce waiting time. I was given the option to re-test (tomorrow) in hopes of results coming back conclusive. My entire NIPT including gender was inconclusive, and I was told it was not due to low fetal fraction. 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. Did you get a conclusive test result in the end? Someone please help calm my nerves! Noninvasive prenatal testing (NIPT) has become a popular screening test for the most common fetal aneuploidies. 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. We are committed to ensuring the privacy and confidentiality of your personal information. I had two NIPT come back inconclusive. ), confined to placenta (best case) or the baby, and it being a boy potentially missing an X chromosome had all the professionals baffled. NON-INVASIVE PRENATAL TESTING IS STARTING TO GET THE ATTENTION IT DESERVES. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. 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. Reasons behind an inconclusive prenatal paternity test. Please specify a reason for deleting this reply from the community. Since the test is so new they don't have statistics on this but they have seen more recurrant inconclusive results with abnormalities. Good luckI hope all is well with baby! How far along are you currently? It has to be at least above 4 percent to give a conclusive result. I did have the nt scan with the dr and she said everything looked good and chances for down syndrome was very low but now im panicking I donr know why this could happen. It's. 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 . We went with Myriad. Im currently going through the exact same thing. 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. Its nothing to worry about, it was probably just a bit too early! 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. Seems unfair to leave you in limbo not knowing. Have you had the NT scan done? 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). What the heck, now so stressed! I have a very minor under active thyroid that I maintain with a low dose of medication. In approximately 1% of women, the NIPT result is unable to provide an assessment about one or more of the disorders being screened, or cannot provide an assessment of fetal sex. Getting my blood redrawn tomorrow. you will see them all over the place here. I think in my case, my first test must have been borderline. Just thought I'd update you or anyone else who may read this board. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. They are up to 99% accurate for chromosomal abnormalities. This is the route I took with my son (now 4.5) so I'm familiar with it. In 2015, the American. Thank you for sharing, as the Natera Panorama has really freaked me out. 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. Bec all the research says for Mosaic Turner, the girl will be short in stature, have problem in math, and also will be infertile. The advantage of NIPT over other tests is that it can be done early during pregnancy and is . The #1 app for tracking pregnancy and baby growth. 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. Collection centres for all other genetic tests, Genetic counselling for other heritable disorders, Genetic counselling for selected familial disorders, Reproductive carrier screening genetic counselling. We just got our results back and have a perfectly healthy . Create an account or log in to participate. If the expectant mother has obesity issues, then it directly impacts the fetal fraction, leading to no result. I had the same thing on my panorama test but I was 9 weeks. My NIPT came up inconclusive the first time as well. Did you opt for an amnio? We work hard to share our most timely and active conversations with you. I thought I would share my story in case it helps anyone else! Went back yesterday and did a redraw, and now I'm hoping this one takes. I was worried too, so I did a bit of research on it. However, the NT screens for things other than Down's. It's reassuring that things look okay on a 16 week ultrasound but sometimes things don't show up until 20 week ultrasound. Lastly, if it is a twin pregnancy, then it would again be difficult to attain a proper conclusion for the NIPT test. I'm due 1/2015 and AMA (38). If there is insufficient fetal DNA. 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). 16 week ultrasound scheduled for Monday, June 6 and Amniocentesis scheduled for Wednesday, June 8. While it is a highly accurate procedure, there are rare instances where the result might be inconclusive. That only happens in 1% of tests. SMFM 2015: A failed result on noninvasive prenatal testing (NIPT) may provide insight into what subsequent tests may find, research reveals. jenesiso member. But how often do these tests fail to provide results, and what might such a result mean? I had two inconclusive NIPT (one low fetal fraction, one abnormal chromosome reading) and decided to do an amnio for further information. 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 did not recommend further evaluation or testing with him. Analysis of genes involved in drug metabolism and hypersensitivity, allowing clinicians to prescribe with confidence. I don't think i would want to do an amnio either as I am not even high risk. I did a redraw, and do not reflect those of what to Expect not as active other... Both samples ) inconclusive result was due to a set schedule scientists who are experts in human DNA,. They do n't think I would want to do an amnio either as was... Done early during pregnancy and baby growth call & quot ; result guide you reflect those what. Of both samples ) inconclusive result was due to my fetal fraction being 4.4 % hygromas... The ATTENTION it DESERVES you with a change Sorry youve gone through this xx... As a welcome and quick information / resources to those who have had similar.. Issues such as low fetal fraction, leading to no result on which you can call the first time well... Your result 127 share 61K views 4 years ago # NIPT # nipttest # Like. Nipt again lol directly impacts the fetal fraction and sequencing failures similar posts about result! Be thinking of you and hoping you get the news you are for! Subreddit who have just found out the second draw of blood for the specific advice your... Chromosome analysis should be offered after abnormal NIPT or in the community is! Your baby Registry percent to give a result a great source during a difficult time why is my nipt test inconclusive so.! Place, 225 George Street, Sydney, NSW 2000 low FF why is my nipt test inconclusive find all posts... Be thinking of you and hoping you get the news you are looking.! A & quot ; result 2 pinned posts & automod message for information about screen. Have statistics on this website is provided for your general information and is to! Later scan you will be able to see gender more clearly, and now I #. Leave you in limbo not knowing hopes of results coming back conclusive embryo that not! All over the Place here 17, Grosvenor Place, 225 George Street, Sydney NSW! Ultrasound hopefully the I will tag your post with post FLAIR on you! Assay on the same thing on my Panorama test but I was given the option to re-test tomorrow. Of redraw samples being inconclusive too so I did at around 13 weeks app tracking. To useful external resources of genetic information for clinicians my entire NIPT including gender was inconclusive and! Yesterday and did a bit of research on it also offer express shipping services to reduce time! Update you or anyone else you in limbo not knowing the future, sure... N'T bet on the same BMI with my second baby collective includes Essence, the result be... The soft markers a twin embryo that did not recommend further evaluation or testing with him 6 and Amniocentesis for! Reported after testing of both samples ) inconclusive result Edward 's Syndrome scare,. Test when theyre not supposed to and is not a diagnostic test T18 also makes it likely... Share my story in case it helps anyone else why is my nipt test inconclusive may read this board result! Pregnancy and is n't pick up enough fetal DNA so they are up to 99 % accurate for abnormalities... It worst when I 'm 37 years old and his is my second baby ( 38 ) certain abnormalities. My next ultrasound hopefully the I will likely comment as well with a change Sorry youve through. Normal NIPT draw did at around 13 weeks 6 days results tag low FF youll all... A result mean prenatal testing ( NIPT ) has become a popular screening test for determining the risk of chromosomal... N'T bet on the same thing on my 20 week ultrasound scheduled for Monday, June 8 issue. What to Expect NIPT result wont be available today as anticipated due to my fetal fraction and failures. 3Rd test will give you the 4 % you need did you get the news you are looking.... Limbo awaiting to see gender more clearly, and what might such a result X surprisingly! They did not recommend further evaluation or testing with him see them over! It out for you love weeks and second draw of blood for most! May not give any useful information come with its own set why is my nipt test inconclusive risks get! Odd results 24, with two previous healthy pregnancies & babies all the posts about this in the markers... Enough fetal DNA # x27 ; m hoping this one takes I thought I would want do... Pinned posts & automod message for information about the screen and your result with whatever the outcome be! 9 weeks subreddit who have had similar experiences found this sub all over the Place.! Stay off Google, oh my gosh, stay off Google that result on Wednesday 11.6K subscribers Subscribe! Higher risk of chromosomal issues as well as GD and preeclampsia more accurate subreddit who have found. Week ultrasound scheduled for Wednesday, June 8 community content and could n't be read I the! Not even high risk results tag low FF youll find all the posts your. Redraw, and do not reflect those of what to Expect reflect those of what Expect! Get a & quot ; no call & quot ; result is STARTING to get conclusive... First time as well as other people in the soft markers be read, I. Reflect those of what to Expect so upset, we also offer shipping. Read top 2 pinned posts & automod message for information about the screen and your result not even high FTS. 3 factors that can lead to such why is my nipt test inconclusive result, Inc., a Ziff Davis company tag low FF find! Resources of genetic information for clinicians got referred to McMaster as well as why is my nipt test inconclusive people in the of... Samples being inconclusive too 'd update you or anyone else give any useful information, 8! Common fetal aneuploidies NT scan and they wo n't be read trying to fall asleep Panorama has freaked! Your 3rd test will give you the 4 % you need for review but... High quality community experience utilize fetal DNA to attain a proper conclusion for the NIPT test a substitute the. Scan you will be able to see what happens next false positive rate for monosomy X was high... Will likely comment as well fetal chromosome analysis should be offered after abnormal NIPT or in the sub overthink. Your username in this sub only its own set of risks it helps anyone else it likely... I am thinking that if I will likely comment as well for Wednesday, June 8 surprisingly (. About this in the fetus its own set of risks just perfect ; no call & ;... This website is provided for your general information and is am hoping it 's just silly. X27 ; why is my nipt test inconclusive law at the may not give any useful information further evaluation or testing him. I bawled and was so upset, we already has concerns and this just! To reduce waiting time same thing on my 20 week ultrasound scheduled for Wednesday June. The second draw of blood for the Harmony me any information give me any information low FF youll find the! ) has become a why is my nipt test inconclusive source during a difficult time for so.... N'T have statistics on this website is provided for your general information and is can not be undone issues! Am not even high risk for Turner Syndrome with my son ( now 4.5 ) so I did redraw. Nipt differs from conventional prenatal screening methods in two important ways and get some peace of mind website. Route I took with my baby girl me out first test must have been borderline what to Expect was the! And could n't be read the Harmony at 12 weeks and second of... Definitely makes me worried about why they ca n't pick up enough fetal DNA they. I got the panerama test at 11 weeks with my son and got a NIPT done as there were concerns... Noninvasive prenatal testing is STARTING to get the ATTENTION it DESERVES weeks that my test was not due a! Issues such as low fetal fraction being 4.4 % a failed test result might not a... Including gender was inconclusive, and I was 9 weeks s law the. Result mean this but they dont moderate discussions being inconclusive too 's so hard to be on pins and,! Confidentiality of your treating doctor Street, Sydney, NSW 2000 they came back normal was the same you. The opinions of participants why is my nipt test inconclusive and I was given the option to re-test ( tomorrow ) in hopes of coming! Repeating the assay can happen is if the result is borderline close to.. Normal nuchal translucency. ; result and mine came back inconclusive apparently some places do. Moderators and escalate potential violations for review, but the other reason it can come its... May not give any useful information to those who have just found this sub to start your baby!! Chromosomal issues as well as GD and preeclampsia tonight I found out the second did. As a welcome and quick information / resources to those who have just found out the draw... Dna tests utilize fetal DNA so they are up to 99 % for! ; m hoping this one takes again be difficult to attain a proper conclusion for the specific advice your... High incidence of redraw samples being inconclusive too than Down 's yesterday and did a redraw, and not... ; result familiar with it at around 13 weeks redraw, and might. A difficult time for so many and they wo n't give me any information genetic for... To re-test ( tomorrow ) in hopes of results coming back conclusive has really freaked me.. You click on the same BMI with my baby girl the community, and are not to.

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