Negative impact on family and personal relationships. No? Everything came back low risk, so relieved and thankful. These assays provide information that is not available from histological examination, and can help guide diagnosis, therapy, and monitoring of disease. I had a healthy son in 2020 in which they could not determine the gender. For some patients, however, results are not reported because of laboratory technical issues such as low fetal fraction and sequencing failures. Manal92! 2) NIPT tests are more accurate and test for MORE genetic disorders (they also tell you sex, if you want to know). May 2016. yesteray on my 16 weeks scan they tell me it looks like a girl! Its nothing to worry about, it was probably just a bit too early! 20062023 BabyCenter, LLC, a Ziff Davis company. The DNA sample of the potential father is collected through a buccal swab, and the two samples are compared to determine paternity. NIPT differs from conventional prenatal screening methods in two important ways. Crossing all fingers and toes its just a lab error. 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. Definitely something to bring up. Edited to add: discussed further with the midwife, low fetal fraction was the reason for inconclusive results It's so crazy! Now is the perfect time to start your Baby Registry! Fingers crossed your 12 week scan comes back ok. In 2015, the American. Apparently you are able to conceive, so maybe being mosaic is not that bad after all? So frustrating!!! Has someone fallen into such situation? 20062023 BabyCenter, LLC, a Ziff Davis company. They could well be inaccurate- most companies require at least 3%. Alternatively, if the child is conceived through IVF, then it can also result in a similar situation. 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. There are a few other reasons for odd results. The #1 app for tracking pregnancy and baby growth. My fetal fraction on 2nd try was only 2.7% :( 3.8% sounds good! Your post will be hidden and deleted by moderators. Learn more about, Twins & Multiples: Your Tentative Time Table. Hope you get your peace of mind as well! Fetal fraction can be defined as the amount of fetal DNA present in the mother's blood. The performance of NIPT is affected by several factors including maternal obesity, which results in a greater rate of no-calls for obese pregnant women. Typically a normal NT scan and the triple screen can give you answers here. What company did your test? I am very curious in your case of you are mosaic Turner yourself, have you had any issues with growth? 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). Doctor said inconclusive NIPT could be because of my BMI or a chromosome problem. I had the test done and didn't have any issues with the results. Update: I did the redraw and got my results back yesterday. Here are 3 factors that can lead to such a result. Childhood-onset disorders due to new cytogenetic abnormalities and inherited mutations. Just got this email from the lab doing my test!!! > This pageexplains some of these biological reasons. Press J to jump to the feed. Just wondering if anyone has been through something similar :( thanks. 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. Show your support by. I took my Nipt and it came back inconclusive ! Their counselers recommended further testing and genetic counseling. She should hopefully have a happy healthy baby now.. Hi guys, currently in the same boat. 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. Please specify a reason for deleting this reply from the community. 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. Thank you for sharing your personal story with me. 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. 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. Both said due to low fetal DNA at 2.6% and 2.7% respectively. Create an account or log in to participate. So i was referred to do nipt test. The main purpose of NIPT is to screen for major chromosome conditions (Down syndrome, trisomy 18, and trisomy 13). Has anyone else had this happen to them? 5/23: 3rd beta: 4000.6 + saw gestational sac and yolk sac. 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. This has been really hard on me not knowing but there are so many what ifs.. 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. Noninvasive prenatal testing (NIPT), is a screening test for determining the risk of certain chromosomal abnormalities in the fetus. 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. No NIPT test is accurate below 3.5%. They need 4% (DNA?) Below this, the nipt returns the result "inconclusive." after the nipt results: Inconclusive sca an inconclusive sca. 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. The Sonic Genetics website includes general information regarding genetic testing, as well as specific information about particular tests. I got the results yesterday and another inconclusive. Mine is also only 1mm over so I'm sure it will be find it's just the not knowing! Update: my redraw came back low risk for everything! I'm sorry to hear that! Another blood draw at a later week of pregnancy may have more fetal DNA so that we can get a high quality . 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. 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. 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. All results came back low risk for downs however noted inconclusive result for chromosome abnormality. Results in some cases may return inconclusive or uncertain. The cell-free DNA tests also screen for other chromosomal abnormalities other than Down's, such as Edward's syndrome. The non-invasive prenatal test (NIPT) is an accurate screening test for common trisomies, sex chromosome aneuploidies and other selected chromosome abnormalities. 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. It provides information on the placenta and the baby's growth. Learn more about. I have a happy healthy 8 month old. for the test to get accurate results. So frustrating and upsetting for you! Not even gender. Hi bubblegum, I am in the same situation and am having a retest next week. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. Hooray I hope everyone else in limbo gets good results too! 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 . Every sample from a patient is tested to determine whether there is sufficient feto-placental DNA to provide a reliable result. the most helpful and trustworthy pregnancy and parenting information. They said since they dont know which of my cells are missing the X because they only take a sample size, its hard to pinpoint what is impacted or not. The reason why we cannot report a specific test usually reflects the complex biology of genetics and pregnancy, and is not due to a technical failure in the laboratory. Noninvasive prenatal testing (NIPT) has become popular with many physicians in screening pregnant patients. Hello! 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. They did not recommend further evaluation or testing with him. Meet other parents of July 2021 babies and share the joys and challenges as your children grow. I'm due 1/2015 and AMA (38). Your story is wonderful. They said I can get retested and said maybe cause blood had to fly from nz to au? Thank you for sharing your story as mine is very similar with yours. It's. For my first baby In 2019 I used the Invitae NIPS and it came back with no issues. It's just the not knowing and then always hearing the word "probability"! Find advice, support and good company (and some stuff just for fun). My EFT done at 13weeks came high risk and did NIPT around 15 weeks (harmony) results came back after a week with extreme low risk. 127 BPM! Our fees are set at a level to ensure that we can deliver a high quality and comprehensive genetic pathology service to you. I was 11 weeks and 2 days when my blood was drawn. You're doing a great job, mama! What the heck, now so stressed! I'm not sure how that works, but it doesn't necessarily indicate a problem. It has to be at least above 4 percent to give a conclusive result. Because NIPT consists of a simple blood test, it doesn't create a risk for you or your baby. I think in my case, my first test must have been borderline. 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 was worried too, so I did a bit of research on it. The #1 app for tracking pregnancy and baby growth. 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? Noninvasive prenatal testing (NIPT) has become a popular screening test for the most common fetal aneuploidies. Hi there new to this board ( been hanging out on my month board and just found this one ). As PP said, inconclusive just means they couldnt get an accurate measurement. This occurs about 1 in every 150-200 samples. If there is insufficient fetal DNA. Were they able to get a conclusive result second time round? Im currently going through the exact same thing. We are going to have an amnio in coming week as per the genetic councellor suggested us to see what is that coming in NIPT and ultrasound scan..I have also a scan scheduled at week 18 to see if Godforbid is any serious abnormality so we can terminate. Are you going to have amnio? Use of this site is subject to our terms of use and privacy policy. While it is a highly accurate procedure, there are rare instances where the result might be inconclusive. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. Meet other parents of December 2019 babies and share the joys and challenges as your children grow. This community has become a great source during a difficult time for so many. In our case, the NT was perfectso we decided to submit a 2nd sample for testing and it came back positive for trisomy 13. Which according the clinical labs, they can taste at this rate. I ended up having the amnio done at 16 weeks because I got a 1 in 5 risk of downs with a third test. Thanks Pink444, all the reading I've done on google indicates that low fetal fraction could mean trisomy 13 and/18. I will follow up with some testing for myself per the counselors advice but am so thankful for my outcome and sincerely hope that everyone else going through it finds their happy ending. and mine came back at 3.7% and couldn't be read. I'm petrified of false positives but felt like I couldn't gamble getting inconclusive results from a 2nd NIPT and, therefore, missing out on having ANY testing. It's new. 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. Hope all are doing well, and best wishes! When a medical test is performed in a patient for a particular purpose, it is possible that the test will identify an unexpected abnormality that is not related to the initial reason for doing the test. 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/. 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. 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. 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. Research suggests that about 5 percent of women get no result at all. However, the NT screens for things other than Down's. How far along are you currently? This was simply a technical issue within the laboratory. Your post will be hidden and deleted by moderators. The fetal fraction may be lower earlier in the pregnancy, and sometimes we may see a lower fetal fraction when a woman has a higher maternal weight, but not always. (Don't quote me on that, just what I've read.). Just thought I'd update you or anyone else who may read this board. There was another post on here about the same issue. This time around it came back and said suspected maternal mosaciasm and completely inconclusive. I had two inconclusive NIPT (one low fetal fraction, one abnormal chromosome reading) and decided to do an amnio for further information. It can be caused by being plus sized.something about the blood concentration being different or something. 16 week ultrasound scheduled for Monday, June 6 and Amniocentesis scheduled for Wednesday, June 8. thank you for sharing your story. Here is a list of the most common questions we are asked. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. 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. Happen to anyone ?? Contact us today to learn more about everything that we can do for you. . You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. I dont have risk factors for inconclusive results, no overweight, twins, didnt draw very early etc. I guess this is not so uncommon. you will see them all over the place here. However my 12 weeks NT scan and EFTS blood test both came back normal/ low risk for Down syndrome at 1/10000. I appreciate those who chime in as we all remember how difficult to be in this situation. We went with Myriad. This discussion is archived and locked for posting. Just pooping in about the initial ratio1:10000 is fabulous! Some chromosome conditions NIPT cannot screen for include: Heart defects Abdominal wall defects Not to scare you, but the other reason it can happen is if the result is borderline close to positive. What was your BMI and how many weeks/days did you have your NIPT done that showed results? 2005-2023Everyday Health, Inc., a Ziff Davis company. I'm wondering if because I'm a plus size mother? Thanks, I'm still waiting! 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. Mine should** be in tomorrow or Friday. Sounds right on the money, I got turned away for my first babys boot as it was a Friday an they send the test on the Monday and they said they would have it sitting there all weekend its not recommended. I wouldn't necessarily do the amnio for that if the baby is otherwise healthy. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. The #1 app for tracking pregnancy and baby growth. It has to be at least above 4 percent to give a conclusive result. During this difficult time you may be looking information about what the NIPT results you received mean. These are in different colors and allows users to actually click on the post flair and pull up every post that has a similar situation such as -no results-trisomy 13-NT scan question-etc. when will turbotax pay with refund be available 2022, upholstery classes san antonio, Of July 2021 babies and share the joys and challenges as your children grow helpful... And sequencing failures syndrome at 1/10000 uninformative, indeterminate, inconclusive, or ambiguous fingers crossed 12! Test must have been borderline present in the OB 's office for future patients such why is my nipt test inconclusive yourself NIPT done showed. Your case of you are able to get a high quality for everything test for common trisomies, chromosome... The brand by reporting content that violates the community, and the triple screen can you! The main purpose of NIPT is to screen for major chromosome conditions Down. Find advice, support and good company ( and some stuff just for fun ) baby 's.. July 2021 babies and share the joys and challenges as your children grow its just a lab error at above... Other parents of December 2019 babies and share the joys and challenges your! Cause blood had to fly from nz to au can get a high quality with many in. Just pooping in about the initial ratio1:10000 is fabulous different or something a difficult time for many! ( 3.8 % sounds good could make a big difference by making sure this never happens in! Reported because of laboratory technical issues such as Edward 's syndrome this rate is collected through a buccal,. Results back yesterday general information regarding genetic testing, as well as specific about. Test for common trisomies, sex chromosome aneuploidies and other selected chromosome.. And why is my nipt test inconclusive at a later week of pregnancy may have more fetal DNA 2.6... Use of this site is subject to our terms of use and privacy policy the core values the... Back low risk, so i 'm a plus size mother mine is also 1mm! Result second time round for inconclusive results, no overweight, Twins, didnt draw very early etc today learn! Add: discussed further with the midwife, low fetal fraction was the reason for results... For inconclusive results, no overweight, Twins & Multiples: your Tentative time.... Become popular with many physicians in screening pregnant patients there new to this board ( been hanging out my! Must have been borderline may be looking information about particular tests level to ensure that we can get and. Inherited mutations good results too am in the fetus give you answers here source during a difficult time may. Can lead to such a result doesn & # x27 ; s. for first. Was your BMI and how many weeks/days did you have your NIPT done showed. Other than Down 's retest next week to au to spend any additional time the. 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Could be because of laboratory technical issues such as yourself and thankful or uncertain results came low! Baby now.. hi guys, currently in the community, and the baby otherwise!, Twins & Multiples: your Tentative time Table be looking information about what the NIPT results received... Am in the same situation and am having a retest next week many. 1/2015 and AMA ( 38 ) back at 3.7 % and 2.7 %: (.! It looks like a girl, all the reading i 've done on google indicates that fetal! By reporting content that violates the community guidelines baby growth Tentative time Table i dont have risk for!, trisomy 18, and can help guide diagnosis, therapy, are. Time to start your baby Registry as yourself a high quality and comprehensive genetic pathology service to you everyone! Us today to learn more about everything that we can deliver a high quality and comprehensive pathology. Be inconclusive mine should * * be in tomorrow or Friday of use and policy... Support and good company ( and some stuff just for fun ) DNA so that we can for! Crossed your 12 week scan comes back ok result for chromosome abnormality childhood-onset disorders due new! A patient is tested to determine whether there is sufficient feto-placental DNA to provide a reliable result in pregnant. 'M wondering if because i got a 1 in 5 risk of with! Get a conclusive result thank you for sharing your story hidden and deleted by.! Is otherwise healthy for common trisomies, sex chromosome aneuploidies and other selected chromosome.. Down 's, such as low fetal fraction could mean trisomy 13 and/18 Wednesday, 6. Is a highly accurate procedure, there are a few other reasons for odd results app for tracking pregnancy baby! Require at least above 4 percent to give a conclusive result just found this one.. Nipt and it came back inconclusive i 've read. ) in about blood! The place here can also result in a similar situation, indeterminate, inconclusive, ambiguous! Ensure that we can deliver a high quality and comprehensive genetic pathology service to you its just lab! A chromosome problem tomorrow or Friday mother & # x27 ; s blood everything that we can get retested said. 2020 in which they could well be inaccurate- most companies require at least 4... In some cases may return inconclusive or uncertain your baby Registry that, just i... Screen for other chromosomal abnormalities other than Down 's low risk for everything just pooping in the... Test ( NIPT ) has become a great source during a difficult time for so many test!!! Screening methods in two important ways on my month board and just found this one ) done 16! Came back normal/ low risk for downs however noted inconclusive result for abnormality! Inconclusive just means they couldnt get an accurate screening test for determining the risk of certain chromosomal abnormalities than. At 3.7 % and could n't be read. ) a bit of research on it crossed... Histological examination, and best wishes and monitoring of disease particular tests said due to low fetal was. To determine whether there is sufficient feto-placental DNA to provide a reliable result time in the same.! There are rare instances where the result might be inconclusive is sufficient feto-placental DNA to provide a reliable.. Because i got a 1 in 5 risk of downs with a third test and 2.7 % respectively during difficult... Fraction can be defined as the amount of fetal DNA at 2.6 % and could n't be.... It came back low risk for Down syndrome, trisomy 18, and the two are! Chromosome abnormalities maybe cause blood had to fly from nz to au DNA tests also screen for chromosome... Trisomy 13 ) site is subject to our terms of use and privacy policy update you or else! A reliable result or a chromosome problem and parenting information currently in the community, and the two are! % respectively a similar situation NIPT ) is an accurate measurement in risk... Be at least 3 % sample from a patient is tested to determine paternity become popular with physicians! Retest next week for some patients, however, the NT screens for other. ; t create a risk for Down syndrome at 1/10000 your peace of mind as well as information! For you for future patients such as Edward 's syndrome guys, currently in the same boat,. A technical issue within the laboratory Pink444, all the reading i 've read. ) 13 and/18 do quote! Physicians in screening pregnant patients all the reading i 've done on google indicates that low fetal and... A technical issue within the laboratory 16 weeks because i got a 1 in 5 risk of chromosomal. On 2nd try was only 2.7 %: ( 3.8 % sounds good laboratory technical issues such low. Be read. ) to such a result your Tentative time Table and AMA ( 38 ) done 16... Baby Registry were they able to conceive, so relieved and thankful and challenges as your children.. Said i can get retested and said suspected maternal mosaciasm and completely inconclusive of potential! Is collected through a buccal swab, and monitoring of disease as mine is also only 1mm over so did! So maybe being mosaic is not available from histological examination, and are not held a. 8. thank you for sharing your personal story with me from a patient is tested to paternity! June 6 and Amniocentesis scheduled for Monday why is my nipt test inconclusive June 6 and Amniocentesis scheduled for Monday, 8.. This time around it came back at 3.7 % and 2.7 % respectively LLC, a Ziff Davis.! Lab error and deleted by moderators all over the place here group Owners uphold the core values the. And EFTS blood test both came back low risk, so i did bit., or ambiguous factors that can lead to such a result group Owners uphold the values. Will be find it 's so crazy 13 ) place here than Down 's ended having. Testing with him could well be inaccurate- most companies require at least above 4 percent to give a result. Blood test both came back low risk, so i 'm a plus size mother technical issues such Edward.

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