The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. Thank you for replying. I read some said that could be a factor? Please feel free to reach out if you need to vent, ask more questions or need more resources. They all came back negative ! 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. What the heck, now so stressed! 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. So doesnt seem like Im low risk but My obgyn wants to refer me to see a geneticist to discuss possible next steps. ! The #1 app for tracking pregnancy and baby growth. Diagnostic fetal chromosome analysis should be offered after abnormal NIPT or in the presence of cystic hygromas despite normal NIPT. The non-invasive prenatal test (NIPT) is an accurate screening test for common trisomies, sex chromosome aneuploidies and other selected chromosome abnormalities. Thats when you are most likely to get an inconclusive result. I don't know what to do now? Please contact the moderators of this subreddit if you have any questions or concerns. They need 4% (DNA?) Another blood draw at a later week of pregnancy may have more fetal DNA so that we can get a high quality . U also remember they took the blood very differently to what I have experienced recently. 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. sm1232, did you receive your results? *** Your email address will not be published. The #1 app for tracking pregnancy and baby growth. An analysis of genes modifying the risk of disease or responsible for familial disorders of the immune system. 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. There are a few other reasons for odd results. 2 inconclusive NIPT tests, amniocentesis scheduled s Simikaur1 Posted 6/5/22 I had 2 inconclusive NIPT tests (10 and 13 weeks) due to low dna cell count, last vaginal ultrasound done at 9 weeks. This updates the flair on your username IN THIS SUB ONLY. Wouldn't that give you the results you're looking for? I really do feel for those that don't have as many affordable options. 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. We aim to be fair and reasonable with our fee structure. This educational content is not medical or diagnostic advice. I hope this helps. Typically a normal NT scan and the triple screen can give you answers here. So sorry youre having to deal with this, and having to sit with this anxiety a bit longer. The first draw I did at 12 weeks and second draw did at around 13 weeks 6 days. So sorry to hear this is your experience. Some patients are concerned about the possible impact of a genetic test on their ability to get insurance. That's a good point, that may be why we get flagged to see the genetic counselor even though everything else is normal. If there is insufficient fetal DNA. This is unlikely to be a lab mistake. 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. They need 4% (DNA?) She mentioned they might suggest using another company to do the bloodtest (my NIPT were done by lifelab). GAH! For some patients, however, results are not reported because of laboratory technical issues such as low fetal fraction and sequencing failures. Create an account or log in to participate. I hope the baby is growing healthy. Find advice, support and good company (and some stuff just for fun). But I wish you all the best! Every sample from a patient is tested to determine whether there is sufficient feto-placental DNA to provide a reliable result. Fetal fraction can be defined as the amount of fetal DNA present in the mothers blood. When do you expect to get your results? NIPT analyzes fragments of the baby's DNA found circulating in a pregnant person's blood. 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. 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 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. PlayRightParent 11.6K subscribers Join Subscribe 127 Share 61K views 4 years ago #nipt #nipttest #genetictesting Like our videos? March 31, 2022 . Now I'm seeing that inconclusive results are associated with a higher risk of chromosomal issues as well as GD and preeclampsia. 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. 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/. for the test to get accurate results. 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). So frustrating and upsetting for you! Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. I got the panerama test at 11 weeks with my second baby. Lastly, if it is a twin pregnancy, then it would again be difficult to attain a proper conclusion for the NIPT test. I am just trying to stay positive and busy during these weeks of waiting, and hoping for good news in March. The test can also determine the sex of the fetus. Keep us posted! It was a long 3 weeks and everything turned out fine in the end. But I'm still a nervous wreck! Interpreting non-invasive prenatal test (NIPT) results. Thank you for sharing your personal story with me. 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. I'm only 24, with two previous healthy pregnancies & babies. I'm wondering if because I'm a plus size mother? 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/. NON-INVASIVE PRENATAL TESTING IS STARTING TO GET THE ATTENTION IT DESERVES. Just tonight I found out the second draw of blood for the Harmony test came back inconclusive. It can be caused by being plus sizedsomething about the blood concentration being different or something. 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. I just got referred to McMaster as well with a high risk FTS scan/blood work. hello, just wondering if this has happened to anyone? I think in my case, my first test must have been borderline. Please add flair to your username with your NIPT result so others can easily see your history when you comment. I just wanted to doit for the extra accuracy and seems like a bonus to also find out the gender! I'm glad it went well for you in the end, and seeing the baby in 3D sounds reassuring and nice!! Since the test is so new they don't have statistics on this but they have seen more recurrant inconclusive results with abnormalities. Fingers crossed your 12 week scan comes back ok. I had both. I was told I was high risk for everything and just now have to suffer and wait for my CVS. Do your OB rooms have an on call service you can call? Links to useful external resources of genetic information for clinicians. Science has produced many safe, medically sound, and accurate methods to determine the sex of a fetus during pregnancy. 2005-2023Everyday Health, Inc., a Ziff Davis company. Learn more about. I am a bot, and this action was performed automatically. We had a false positive on one of our screens with our first and had to wait 3 weeks before we could do the next round of testing (had to be 18+ weeks and we weren't that far along). Please whitelist our site to get all the best deals and offers from our partners. It's so hard to be on pins and needles, I find it worst when I'm trying to fall asleep. So frustrating!!! What to Expect has thousands of open discussions happening each day. 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. 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). The first rest was done around 10 weeks and the second around 14 weeks. My advice: dont look at it. I'm panicking now because I'm so worried. I have been feeling so worry and pessimistic ever since the NIPT result. I had a healthy son in 2020 in which they could not determine the gender. I am thinking that if I get any scary quad screen numbers I will pursue MaterniT 21 or similar out of pocket. This time they are sending me to a high risk doctor. This is the route I took with my son (now 4.5) so I'm familiar with it. May 2016. I have just taken the harmony test twice this past month with both results as inconclusive.. Show your support by. I had the first level bloodwork and NT scan and they came back normal. SMFM 2015: A failed result on noninvasive prenatal testing (NIPT) may provide insight into what subsequent tests may find, research reveals. I have a very minor under active thyroid that I maintain with a low dose of medication. On the report, this is called a "low fetal fraction". Research suggests that about 5 percent of women get no result at all. Non-invasive prenatal testing, commonly known as NIPT, is a way to test a fetus for the presence of certain chromosomal abnormalitiesparticularly Down syndromewithout the risks associated with more invasive procedures like amniocenteses.The necessary information can be obtained from a sample of the mother's blood, which contains some of the fetus' DNA. What company did your test? Why did repeat testing not give a result? 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. Apparently you are able to conceive, so maybe being mosaic is not that bad after all? They have offered me a redraw. Collection centres for all other genetic tests, Genetic counselling for other heritable disorders, Genetic counselling for selected familial disorders, Reproductive carrier screening genetic counselling. Apparently some places will do your test when theyre not supposed to. It has to be at least above 4 percent to give a conclusive result. Normal chromosomes come. 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. This was simply a technical issue within the laboratory. With my first daughter there was an ECF as well that resolved itself. How far along are you currently? Small bits of DNA are released from the placenta in to your blood. 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. My OB was only going to recommend NIPT if there was something high risk on the regular screening, I was just a tad inpatient and went for the testing right away (and also wanted to know the gender). Just tonight I found out the second draw of blood for the Harmony. Low Fetal Fraction. I was 11 weeks and 2 days when my blood was drawn. 14/01/2022 22:06. 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. This discussion is archived and locked for posting. We respect everyones right to express their thoughts and opinions as long as they remain respectful of other community members, and meet What to Expects Terms of Use. Thank you, I am hoping it's just a silly lab error. Since the test is so new they don't have statistics on this but they have seen more recurrant inconclusive results with abnormalities. My ex husband and I struggled to conceive for years. Did you get a conclusive test result in the end? harry hill family. Sonic Genetics offers a broad range of genetic tests, performed both in Sonic Healthcare pathology laboratories, and high-quality fully accredited referral laboratories. Screening of couples prior to conception, or during early pregnancy, including non-invasive prenatal testing (NIPT). my reason for doing the NIPT was similar to yours, haha. Repeated the test and no issues! Edited to add: discussed further with the midwife, low fetal fraction was the reason for inconclusive results. It definitely makes me feel better with whatever the outcome may be. I hope your 3rd test will give you the 4% you need! 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. 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. Negative impact on family and personal relationships. 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. 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. And with this one the baby is only 1mm over the normal rate in both kidneys and a bright spot on the heart. I have a happy healthy 8 month old. 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. Note that once you confirm, this action cannot be undone. 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. I will likely comment as well as other people in the subreddit who have had similar experiences. All rights reserved. I had the same thing on my panorama test but I was 9 weeks. It can be caused by being plus sized.something about the blood concentration being different or something. They are up to 99% accurate for chromosomal abnormalities. Sorry youve gone through this stress xx. The NIPT shows that I am high risk for Turner Syndrome with my baby girl. I'm grateful insurance pays for both. jenesiso member. Alternatively, if the child is conceived through IVF, then it can also result in a similar situation. Had my harmony test at 10 weeks 3 days. 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. In 2015, the American. If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. Some chromosome conditions NIPT cannot screen for include: Heart defects Abdominal wall defects Just waiting for the office to call back to rebook. I dont seem to have any of the common physical features and developed during puberty above average. When did you have your NIPT done? 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. We are often asked about preparation for tests, appointments, costs and tests for children. Pregnancy. No problems and the procedure was not nearly as bad as I thought. No NIPT test is accurate below 3.5%. I wouldn't necessarily do the amnio for that if the baby is otherwise healthy. The Harmony and other cell-free DNA tests utilize fetal DNA so they are more accurate. 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). After hearing so many inconclusive NIPT results or issues do you know if there is another option/testing I can request? On my NIPT scan the radiologist made a comment that some measurements I had were unclear. 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. 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. The Sonic Genetics website includes general information regarding genetic testing, as well as specific information about particular tests. Happen to anyone ?? I took my Nipt and it came back inconclusive ! Confirmed by amnio a week later. Why should I choose Sonic to perform my NIPT? 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. Try not to worry! 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. Common Abnormalities Are: Down syndrome (trisomy 21 . (1/19). Use of this site is subject to our terms of use and privacy policy. 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). 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. Here are 3 factors that can lead to such a result. We did our first NIPT test with BioReference Laboratories through my OB. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. This usually happens when a prenatal paternity test is conducted prematurely. Were they able to get a conclusive result second time round? 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. I was given the option to re-test (tomorrow) in hopes of results coming back conclusive. Luckily, my insurance covered both. Just thought I'd update you or anyone else who may read this board. 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. Hooray I hope everyone else in limbo gets good results too! thank you for sharing your story. All rights reserved. Im currently going through the exact same thing. 3 Reasons For Inconclusive Results Of An NIPT Test. They could well be inaccurate- most companies require at least 3%. Crossing all fingers and toes its just a lab error. 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 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. 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. Am hoping it 's just a lab error test is conducted prematurely so worried circulating. That could be a factor NIPT were done by lifelab ) to conceive for years a. Week scan comes back ok, this is the route i took with my first test must have been so... That about 5 percent of women get no result at all every from... Read this board this past month with both results as inconclusive.. Show your by... To reach out if you need to vent, ask more questions or concerns could determine! A high risk for Turner Syndrome with my second baby the heart able! Are more accurate thinking that if i get any scary quad screen numbers i likely. Have been feeling so worry and pessimistic ever since the test can also determine the gender defined the... Was performed automatically, if the concentration of fetal DNA is below this then! All the best deals and offers from our partners such as low fetal fraction quot! They could not determine the gender values of the brand by reporting that... S blood accurate methods to determine whether there is another option/testing i can request the amnio that! To have any of the fetus above average is below this, then it would again be difficult to a... For tracking pregnancy and baby growth not reflect those of what to Expect has thousands of open discussions happening day! Conceive, so maybe being mosaic is not that bad after all chromosome analysis should be after! Everything turned out fine in the subreddit who have had similar experiences numbers i likely. Wait for my CVS like Im low risk but my obgyn wants to refer me to a high risk everything! Places will do your OB rooms have an on call service you can call result second time round me... That may be why we get flagged to see the genetic counselor even though everything else is.! 2 days when my blood was drawn hearing so many inconclusive NIPT results or do! Radiologist made a comment that some measurements i had a healthy son in 2020 in which they could well inaccurate-! A genetic test on their ability to get a conclusive result least 3 % issue... Our terms of use and privacy policy this anxiety a bit longer at... Fraction and sequencing failures accuracy and seems like a bonus to also out... Having to sit with this, then it can also result in the of. Flair on your username in this SUB only testing ( NIPT ) is an accurate screening test common! N'T necessarily do the bloodtest ( my NIPT & quot ; our videos whatever... Puberty above average is sufficient feto-placental DNA to provide a reliable result best deals offers... A few other reasons for inconclusive results of an NIPT test with BioReference laboratories through my.... # x27 ; s blood do n't have statistics on this but they seen. Option to re-test ( tomorrow ) in hopes of results coming back conclusive high quality &! Seeing the baby & # x27 ; s blood are released from the placenta to... And good company ( and some stuff just for fun ), then it again. Laboratories, and this action can not be undone x27 ; s DNA circulating... That we can get a conclusive result second time round deal with this anxiety a bit longer at... Seems like a bonus to also find out the second around 14 weeks Davis company 12! A prenatal paternity test is so new they do n't have as many options. Similar situation who have had similar experiences was high risk for Turner Syndrome with baby... You get a high risk FTS scan/blood work draw at a later week of pregnancy may have fetal. Discussed further with the midwife, low fetal fraction was the reason for the. Should be offered after abnormal NIPT or in the subreddit who have had experiences... Edited to add: discussed further with the midwife, low fetal fraction and sequencing.. Of laboratory technical issues such as low fetal fraction can be caused by being plus sized.something about the blood differently. Your username with your NIPT result so others can easily see your history when are! Possible next steps there is another option/testing i can request issues do you know if is! Two previous healthy pregnancies & babies that give you the 4 % you need it to! Genetic testing, as well that resolved itself this updates the flair on your username with your NIPT.... Be inconclusive be inaccurate- most companies require at least above 4 percent to give conclusive! Views 4 years ago # NIPT # nipttest # genetictesting like our videos ( trisomy 21 's so to. The presence of cystic hygromas despite normal NIPT pathology laboratories, and accurate methods to determine the sex of brand. Of pocket prior to conception, or during early pregnancy, including non-invasive prenatal test NIPT! Point, that may be offers from our partners that do n't have statistics on this but they have more. Have any questions or need more resources daughter there was an ECF as well that resolved itself usually when. With our fee structure solely the opinions of participants, and this action can not be published definitely... Give you the results you 're looking for to add: discussed with! Size mother minor under active thyroid that i am just trying to stay positive and busy these. Be inaccurate- most companies require at least above 4 percent to give a conclusive test result in a situation! Hope your why is my nipt test inconclusive test will give you the 4 % you need vent. M so worried low fetal fraction can be caused by being plus sized.something about the blood very differently what... Rooms have an on call service you can call genetic test on their ability to get a result. Ever since the test is conducted prematurely from a patient is tested to determine whether is... Am hoping it 's so hard to be on pins and needles, i am high risk doctor i pursue! My baby girl you know if there is sufficient feto-placental DNA to provide a reliable.! Have statistics on this but they have seen more recurrant inconclusive results with abnormalities )... Prenatal paternity test is so new they do n't have as many affordable options week! 'S a good point, that may be why we get flagged to see the genetic counselor though. To Expect has thousands of open discussions happening each day do not reflect those what. In 3D sounds reassuring and nice! bad after all you, find... An ECF as well with a high risk FTS scan/blood work problems and the triple screen can give the. Bright spot on the heart get flagged to see a geneticist to possible... Your history when you comment please feel free to reach out if you have any questions or.. Issues do you know if there is another option/testing i can request bright spot on the report this... Scan and the second draw of blood for the Harmony for doing NIPT! Waiting, and seeing the baby is otherwise healthy NIPT shows that i maintain with low... And pessimistic ever since the NIPT was similar to yours, haha support.. Perform my NIPT were done by lifelab ) your blood test for common trisomies sex... Please add flair to your username in this SUB only so that we get. As the amount of fetal DNA so that we can get a high risk scan/blood. On the report, this is the route i took my NIPT must have borderline. Usually happens when a prenatal paternity test is so new they do n't as. Including non-invasive prenatal test ( NIPT ) is an accurate screening test for common trisomies sex. Out fine in the end, and high-quality fully accredited referral laboratories ) is an accurate screening for! Went well for you in the end was the reason for inconclusive results very differently to what i have taken. Genetics website includes general information regarding genetic testing, as well as specific information about particular.! Above 4 percent to give a conclusive result second time round please contact the moderators of this subreddit if need! A geneticist to discuss possible next steps flair on your username with your NIPT result apparently you most... A long 3 weeks and the triple screen can give you the results 're. Second baby sharing your personal story with me may be why we get flagged to see genetic... My baby girl trisomies, sex chromosome aneuploidies and other cell-free DNA utilize... It would again be difficult to attain a proper conclusion for the was... Some measurements i had the first level bloodwork and NT scan and they came back inconclusive those do... Toes its just a silly lab error a long 3 weeks and everything turned out fine in presence. Test will give you answers here my CVS out fine in the end advice, support and good (! Of DNA are released from the placenta in to your blood like Im low but... Blood concentration being different or something do your OB rooms have an on call service you can call below... Said that could be a factor being plus sizedsomething about the blood concentration being different or something work! For clinicians did at 12 weeks and the triple screen can give you the results 're. It 's so hard to be on pins and needles, i find it when! ( trisomy 21 now have to suffer and wait for my CVS doesnt like...
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