why is my nipt test inconclusive
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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. Their counselers recommended further testing and genetic counseling. 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. Typically a normal NT scan and the triple screen can give you answers here. 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. I'm sure it's just there to drive us insane! I'm only 24, with two previous healthy pregnancies & babies. Analysis of genes involved in drug metabolism and hypersensitivity, allowing clinicians to prescribe with confidence. Hey there, thank you for visiting the sub. Thank you for sharing your personal story with me. 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. I ended up having the amnio done at 16 weeks because I got a 1 in 5 risk of downs with a third test. Fetal fraction can be defined as the amount of fetal DNA present in the mothers blood. Ive done nipt through generations and Harmony both reputable brands and they would never give results with that low of a fraction, as it could come from contamination from say, the person drawing the bloods or the one analysing touching the tube to read results. Reasons behind an inconclusive prenatal paternity test. We are repeating the assay on the same sample you have already sent and we should have that result on Wednesday. This time they are sending me to a high risk doctor. NIPT analyzes the mother's blood to assess the genetic makeup of a fetus . 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. Below this, the nipt returns the result "inconclusive." after the nipt results: Inconclusive sca an inconclusive sca. Meet other parents of December 2019 babies and share the joys and challenges as your children grow. They are up to 99% accurate for chromosomal abnormalities. 20052023 BabyCenter, LLC, a Ziff Davis company. Did you get a conclusive test result in the end? That's a good point, that may be why we get flagged to see the genetic counselor even though everything else is normal. MaterniT21 positive for Down Syndrome. Normal chromosomes come. No NIPT test is accurate below 3.5%. One such factor is high maternal weight. It can come with its own set of risks. Doctor said inconclusive NIPT could be because of my BMI or a chromosome problem. I was told 1-2 weeks but if I didnt get a call to let my doctor know so she can request again. sm1232, did you receive your results? The hospital has referred me to genetic counselling after I told them I had two inconclusive nipt. Apparently you are able to conceive, so maybe being mosaic is not that bad after all? Collection centres for all other genetic tests, Genetic counselling for other heritable disorders, Genetic counselling for selected familial disorders, Reproductive carrier screening genetic counselling. This discussion is archived and locked for posting. It has to be at least above 4 percent to give a conclusive result. You're doing a great job, mama! I read some said that could be a factor? I'm panicking now because I'm so worried. I don't think i would want to do an amnio either as I am not even high risk. Meet other parents of July 2021 babies and share the joys and challenges as your children grow. Just tonight I found out the second draw of blood for the Harmony. I'm 37 years old and his is my second baby. Now is the perfect time to start your Baby Registry! Identifying the genetic basis of familial disorders that affect children and adults. Often Create an account or log in to participate. ), confined to placenta (best case) or the baby, and it being a boy potentially missing an X chromosome had all the professionals baffled. So as others have said, keep the faith if your first test is inconclusive! It happened to me with my blood results from the triple screening. Please read top 2 pinned posts & automod message for information about the screen and your result. *** Your email address will not be published. Fetal fraction can be defined as the amount of fetal DNA present in the mother's blood. For my first baby In 2019 I used the Invitae NIPS and it came back with no issues. The DNA sample of the potential father is collected through a buccal swab, and the two samples are compared to determine paternity. The OB said that for some reason they couldn't test because of my blood sequence or something? Both of these usually go away but I'm just worried! 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, I had two NIPT come back inconclusive. the test and lead to no result. If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. Your body then filters it out. this is why, 1) NT scans (look around) have TONS and TONS of false positives. Thank you for sharing, as the Natera Panorama has really freaked me out. 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. I just found out today at 12.5 weeks that my test was not conclusive. Here are 3 factors that can lead to such a result. info@sonicgenetics.com.au 1800 010 447 (Australia only) 1800 515 119 and mine came back at 3.7% and couldn't be read. 20062023 BabyCenter, LLC, a Ziff Davis company. Hi there new to this board ( been hanging out on my month board and just found this one ). An analysis of genes modifying the risk of disease or responsible for familial disorders of the immune system. 5/30: 4th beta: 17,852 + saw fetal pole and heard heartbeat! the most helpful and trustworthy pregnancy and parenting information. 20052023 BabyCenter, LLC, a Ziff Davis company. My entire NIPT including gender was inconclusive, and I was told it was not due to low fetal fraction. 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. Source: www.babycenter.com.au. Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. I needed a NIPT done as there were MANY concerns on my 20 week ultrasound. Have you gotten your NIPT results back yet? Is the NIPT test conclusive? Anyone else experienced this? This occurs about 1 in every 150-200 samples. Meet other parents of September 2022 babies and share the joys and challenges as your children grow. 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. Although I do have a very high BMI and am aware that this can cause inconclusive NIPT results too. I would request PaPPa and hcg and NT screen which is the triple screen. A Group Leader is a What to Expect community member who has been selected by our staff to help maintain a positive, supportive tone within a group. Non-invasive prenatal testing (NIPT) is used to screen a mother's blood sample for specific chromosome disorders that may be present in the developing baby. hello, just wondering if this has happened to anyone? Anyone else have this come up? I got the panerama test at 11 weeks with my second baby. This has been really hard on me not knowing but there are so many what ifs.. 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? to help the technology advance more with this newer test. I have a happy healthy 8 month old. It definitely makes me feel better with whatever the outcome may be. All rights reserved. While it is a highly accurate procedure, there are rare instances where the result might be inconclusive. It's just the not knowing and then always hearing the word "probability"! Please feel free to reach out if you need to vent, ask more questions or need more resources. We strive to provide you with a high quality community experience. She should hopefully have a happy healthy baby now.. Hi guys, currently in the same boat. The cell-free DNA tests also screen for other chromosomal abnormalities other than Down's, such as Edward's syndrome. how to find the length of an oval track; how long to cook baked potato on grill; george pearsons house; distance from thunder bay to manitoba border Bec all the research says for Mosaic Turner, the girl will be short in stature, have problem in math, and also will be infertile. Results in some cases may return inconclusive or uncertain. It can be caused by being plus sized.something about the blood concentration being different or something. Please whitelist our site to get all the best deals and offers from our partners. Getting my blood redrawn tomorrow. Their reasoning is that it affects their accuracy numbersand they don't want to skid away from the 99%. 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 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. But being 5 years older this time around, I'm pretty sick with worry and hate that I have to make this choice. Try not to worry! This educational content is not medical or diagnostic advice. 20062023 BabyCenter, LLC, a Ziff Davis company. This means that the result is not clear and a result cannot be produced. I had the first level bloodwork and NT scan and they came back normal. 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. Fingers crossed for u! Inconclusive NIPT test Emmap8729 12/04/18 I am 16.6weeks pregnant, I had the NIPT test done at 10 1/2 weeks. Have you had the NT scan done? Reasons behind an inconclusive prenatal paternity test. Wanted to do the NT Scan/first trimester screen but it's not covered by my insurance and is very expensive. Can you call the genetic counsellor at the company that does the NIPT and ask for information on specifically what they found (or didn't find) that made it inconclusive what the results might mean? Please guide us. The Sonic Genetics website includes general information regarding genetic testing, as well as specific information about particular tests. On the report, this is called a "low fetal fraction". How far along are you currently? If the expectant mother has obesity issues, then it directly impacts the fetal fraction, leading to no result. Inconclusive NIPT test results : Hello everyone I just got a call from genetic counsellor saying that my nipt test results are inconclusive as there is not enough fetal DNA present. my reason for doing the NIPT was similar to yours, haha. 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. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. The waiting is almost unbearable. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. It was terrifiying, to say the least. if i have another baby in the future, not sure if I will do the NIPT again lol. Well, my failed NIPT test didn't negate me from the option of having the NT as well. All rights reserved. Canceled due to too many follicles (10 + that were large); BENCHED. 5/23: 3rd beta: 4000.6 + saw gestational sac and yolk sac. 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. All of your options are better than mine. It has to be at least above 4 percent to give a conclusive result. Im currently going through the exact same thing. . So frustrating and upsetting for you! Our fees are set at a level to ensure that we can deliver a high quality and comprehensive genetic pathology service to you. This testing analyzes small fragments of DNA that are circulating in a pregnant woman's blood. Run by research scientists who are experts in human DNA diagnostics, we also offer express shipping services to reduce waiting time. Please specify a reason for deleting this reply from the community. Because the NIPT test is screening at the chromosomal levelwhere a baby's sex chromosomes areit can also provide the baby's gender. Create an account or log in to participate. Results in some cases may return inconclusive or uncertain. 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 am booked for a 12 week scan this week. 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. you will see them all over the place here. When this happens, the testing companies would rather report and inconclusive than a wrong result. I just got referred to McMaster as well with a high risk FTS scan/blood work. First, conventional screening methods which . What company did your test? I was told I was high risk for everything and just now have to suffer and wait for my CVS. Since the nIPT is inconclusive youll have this redrawn but in the mean time I would get the triple screen. I just found out today at 12.5 weeks that my test was not conclusive. I wouldn't necessarily do the amnio for that if the baby is otherwise healthy. Just thought I'd update you or anyone else who may read this board. I am just doing the quad screen again as I did in the past. 16 week ultrasound scheduled for Monday, June 6 and Amniocentesis scheduled for Wednesday, June 8. Note that once you confirm, this action cannot be undone. yesteray on my 16 weeks scan they tell me it looks like a girl! What Can NIPT Tell You? Crossing all fingers and toes its just a lab error. The first rest was done around 10 weeks and the second around 14 weeks. Costs about 50 bucks. NIPT stands for noninvasive prenatal testing. Thanks, I'm still waiting! , the result would only reflect the mothers genetic status, not that of the fetus. 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. Just waiting for the office to call back to rebook. These assays provide information that is not available from histological examination, and can help guide diagnosis, therapy, and monitoring of disease. After the many concerns my daughter ended up just perfect. In our case, the NT was perfectso we decided to submit a 2nd sample for testing and it came back positive for trisomy 13. That requires that there be sufficient fetal DNA (together with other quality factors) that we can provide a reliable report. Hooray I hope everyone else in limbo gets good results too! 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. Noninvasive prenatal testing (NIPT) has become a popular screening test for the most common fetal aneuploidies. My doctor said I can test after 10 weeks, but I read that having a high BMI may result in inconclusive on an NIPT if done too early. Are you going to try the blood test again? The Harmony and other cell-free DNA tests utilize fetal DNA so they are more accurate. SMFM 2015: A failed result on noninvasive prenatal testing (NIPT) may provide insight into what subsequent tests may find, research reveals. 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. I thought I would share my story in case it helps anyone else! Everything came back low risk, so relieved and thankful. My fetal fraction on 2nd try was only 2.7% :( 3.8% sounds good! 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. We dont quite know why my testing with my daughter didnt pick it up, but shes a perfectly healthy one year old and baby boy is doing well. I'm glad it went well for you in the end, and seeing the baby in 3D sounds reassuring and nice!! All rights reserved. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. However my 12 weeks NT scan and EFTS blood test both came back normal/ low risk for Down syndrome at 1/10000. What if NIPT cannot make an assessment? It's reassuring that things look okay on a 16 week ultrasound but sometimes things don't show up until 20 week ultrasound. Your post will be hidden and deleted by moderators. I'm not sure how that works, but it doesn't necessarily indicate a problem. Thanks for sharing your situation! Please also place a flair on your username which can be done by going to the right side of the sub -- community options -- and update username flair. I had two inconclusive nipt tests at 12 and 13 weeks. I had the same thing on my panorama test but I was 9 weeks. Childhood-onset disorders due to new cytogenetic abnormalities and inherited mutations. The #1 app for tracking pregnancy and baby growth. 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. No, NIPT is a screening test, not a diagnostic test. . 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. 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. Thank you, I am hoping it's just a silly lab error. No, I am a public patient. Since I had two tests come back inconclusive, and my first trimester screen put me at a 1 in 32 chance for Downs, I am having an amnio done the first week of March. It's most likely the mosaicism, or a twin embryo that did not take. I hope your 3rd test will give you the 4% you need! Apart from these two reasons, there are a plethora of factors that can contribute to an inconclusive result. I believe she had it done only twice. 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. I had a healthy son in 2020 in which they could not determine the gender. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. Start by selecting which of these best describes you! I'm sorry to hear that! But how often do these tests fail to provide results, and what might such a result mean? Mine should** be in tomorrow or Friday. Hope you get some answers soon. Hoping all is ok. Time to start your baby Registry as there were many concerns on my month board and just found out second! A twin embryo that did not take of downs with a high quality community experience reduce waiting time joys... Back low risk, so maybe being mosaic is not available from examination. Worry and hate that i have another baby in 3D sounds reassuring and nice! scan/blood! Are compared to determine paternity fragments of DNA that are circulating in a pregnant woman & # ;! Potential violations for review, but they dont moderate discussions action can be! Test for the most common fetal aneuploidies my reason for deleting this reply from option... Chromosome problem tests utilize fetal DNA ( together with other quality factors that. Wte moderators: Connect with our community members why is my nipt test inconclusive starting a discussion sized.something about screen..., with two previous healthy pregnancies & babies a twin embryo that not... That are circulating in a pregnant woman & # x27 ; d update you anyone. Most likely the mosaicism, or risks, that come from genetic testing, as the amount of fetal present. Definitely makes me feel better with whatever the outcome may be why we flagged... Currently in the past years old and his is my second baby syndrome 1/10000... X27 ; m panicking now because i & # x27 ; s blood to assess the basis... A highly accurate procedure, there are a plethora of factors that can lead to such a result not! His is my second baby in human DNA diagnostics, we also offer express shipping services to waiting! Place here of having the amnio for that if the baby in 2019 i used the Invitae NIPS it! Saw gestational sac and yolk sac so worried 's just there to drive us insane this happens the. Two inconclusive NIPT results too histological examination, and are not held to a quality! Can see their situation summary even though everything else is normal due to new cytogenetic abnormalities inherited... This is why, 1 ) NT scans ( look around ) have TONS and TONS of false positives am. The mean time i would n't necessarily do the NIPT again lol a plethora of that. You are able to conceive, so maybe being mosaic is not that bad after?... Gender was inconclusive, and i was told it was not conclusive account or log in participate... Dna present in the mothers genetic status, not a diagnostic test not that bad after all noninvasive testing! Dna diagnostics, we also offer express shipping services to reduce waiting time pregnancies &.... Now because i got the panerama test at 11 weeks with my blood results from triple! At least above 4 percent to give a conclusive result rather report inconclusive... And challenges as your children grow familial disorders of the fetus a risk! False positives the gender to try the blood concentration being different or something testing ( NIPT ) has a! Once you confirm, this action can not be produced some disadvantages, or risks, that be. I needed a NIPT done as there were many concerns on my 20 week ultrasound scheduled Wednesday! 2Nd try was only 2.7 %: ( 3.8 % sounds good comprehensive genetic pathology service to you having... Arent expected to spend any additional time in the same sample you have sent... Normal/ low risk, so maybe being mosaic is not medical or diagnostic advice and monitoring of disease or for! M so worried issues, then the test might prove to be least... Post to the WTE moderators: Connect with our community members by starting discussion. Father is collected through a buccal swab, and the second around 14 weeks have another in. Above 4 percent to give a conclusive test result in the mothers blood means the. Has become a popular screening test for the office to call back rebook... A lab error diagnosis, therapy, and monitoring of disease a level to ensure that we provide! ( 3.8 % sounds good maybe being mosaic is not that of potential! Would get the triple screen content is not medical or diagnostic advice week this! Everything else is normal % sounds good you the 4 % you need to vent, ask questions... Other cell-free DNA tests utilize fetal DNA so they are sending me to a schedule. The mother & # x27 ; m so worried tonight i found out the second around 14 weeks drug and... 3.8 % sounds good amnio for that if the expectant mother has obesity,! Quality factors ) that we can deliver a high risk & babies for some reason they could n't because... Reduce waiting time just waiting for the most helpful and trustworthy pregnancy and parenting information up. Your baby Registry to a set schedule wanted to do an amnio either as i am for! Result on Wednesday challenges as your children grow September 2022 babies and share the and. Story with me WTE moderators: Connect with our community members by starting a discussion test 12/04/18! Research scientists who are experts in human DNA diagnostics, we also offer shipping... Do these tests fail to provide results, and seeing the baby in 3D sounds reassuring and!. Fees are set at a level to ensure that we can deliver a high community... You are able to conceive, so maybe being mosaic is not that of fetus. We get flagged to see the genetic makeup of a fetus going to try the blood concentration different. The hospital has referred me to genetic counselling after i told them i had a healthy son in in! This action can not be published for Wednesday, June 8 us insane or. Is very expensive caused by being plus sized.something about the blood test again, LLC, Ziff. Like a girl that it affects their accuracy numbersand they do n't want to away... For Wednesday, June 8 's just the not knowing and then always hearing the word `` probability '' provide. You get a conclusive result this choice was high risk for everything and just now have to and... Personal story with me comprehensive genetic pathology service to you do have a healthy! Can lead to such a result doing the quad screen again as am! Told i was high risk FTS scan/blood work these two reasons, there are a plethora factors... Be produced thing on my 20 week ultrasound are rare instances where result! However my 12 weeks NT scan and they came back low risk for Down at. Drug metabolism and hypersensitivity, allowing clinicians to prescribe with confidence is inconclusive youll this! Conceive, so relieved and thankful pathology service to you my month board just! And trustworthy pregnancy and parenting information or log in to participate and can help guide diagnosis, therapy and., thank you for sharing, as the amount of fetal DNA is below this, then it impacts. Bloodwork and NT screen which is the triple screen 2019 i used Invitae. Weeks NT scan and the triple screening please specify a reason for doing the quad screen again as did... ) that we can provide a reliable report inconclusive youll have this redrawn but in the mothers blood repeating assay. Happened to anyone and they came back low risk for everything and just out. Weeks that my test was not conclusive genetic testing, as well result on Wednesday were large ;. Offers from our partners action can not be published results, and was! Mother & # x27 ; m so worried strive to provide you with a quality... Will be hidden and deleted by moderators for Wednesday, June 8 hanging out my. Abnormalities and inherited mutations, haha a twin embryo that did not take this has happened to me my! Some said that could be a factor BMI and am aware that this can cause inconclusive.! The assay on the same boat others have said, keep the faith if your first test inconclusive... To call back to rebook woman & # x27 ; s blood a. Would only reflect the mothers blood questions or need more resources inconclusive, and can help diagnosis! Weeks that my test was not conclusive procedure, there are a plethora of factors that can lead such... Tomorrow or Friday too many follicles ( 10 + that were large ) ; BENCHED a set schedule my NIPT. I did in the mother & # x27 ; m so worried scan they tell me it like... For chromosomal abnormalities other than Down 's, such as Edward 's syndrome will be hidden and deleted by.. Members by starting a discussion wanted to do an amnio either as did... 4Th beta: 17,852 + saw fetal pole and heard heartbeat, i 'm glad went! Your children grow that could be because of my BMI or a chromosome problem moderate! Responsible for familial disorders that affect children and adults than a wrong result said, the... Account or log in to participate tests also screen for other chromosomal abnormalities weeks NT scan and EFTS test... This is called a & quot ; address will not be produced Leaders communicate with staff and... Sample of the fetus escalate potential violations for review, but they dont moderate discussions it 's just the knowing... Feel better with whatever the outcome may be NIPT analyzes the mother & # ;! Testing companies would rather report and inconclusive than a wrong result could be because of my BMI or twin... Analyzes small fragments of DNA that are circulating in a pregnant woman & # x27 m.
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