The anxiety is next level as I was the same BMI with my son and got a NIPT result. I had a healthy son in 2020 in which they could not determine the gender. Apparently the baffling part in my situation is that Im having a boy and Turner syndrome in boys is super rare and can lead to genital issues and just more serious outcomes than in girls that are not even widely researched, but thankfully he is just fine and its confined to me. Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. Wouldn't that give you the results you're looking for? I had two NIPT come back inconclusive. 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. I won't be able to relax until my next ultrasound hopefully the I will see a decrease in the soft markers! Use of this site is subject to our terms of use and privacy policy. Its 100% accurate (I believe). Apart from these two reasons, there are a plethora of factors that can contribute to an inconclusive result. They have offered me a redraw. 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. 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. I guess this is not so uncommon. 2005-2023Everyday Health, Inc., a Ziff Davis company. And what was your BMI? Results in some cases may return inconclusive or uncertain. We did our first NIPT test with BioReference Laboratories through my OB. The cell-free DNA tests also screen for other chromosomal abnormalities other than Down's, such as Edward's syndrome. We strive to provide you with a high quality community experience. I just retested yesterday since the company doesn't charge if it comes back inconclusive. 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. I think in my case, my first test must have been borderline. Hi bubblegum, I am in the same situation and am having a retest next week. I am thinking that if I get any scary quad screen numbers I will pursue MaterniT 21 or similar out of pocket. Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. 16 week ultrasound scheduled for Monday, June 6 and Amniocentesis scheduled for Wednesday, June 8. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. Collection centres for all other genetic tests, Genetic counselling for other heritable disorders, Genetic counselling for selected familial disorders, Reproductive carrier screening genetic counselling. 20052023 BabyCenter, LLC, a Ziff Davis company. Why genetic testing is bad? 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 . Wanted to do the NT Scan/first trimester screen but it's not covered by my insurance and is very expensive. Not even gender. This discussion is archived and locked for posting. I just wanted to doit for the extra accuracy and seems like a bonus to also find out the gender! It's just the not knowing and then always hearing the word "probability"! They need 4% (DNA?) Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. Meet other parents of December 2019 babies and share the joys and challenges as your children grow. NIPT differs from conventional prenatal screening methods in two important ways. Results in some cases may return inconclusive or uncertain. Screening of couples prior to conception, or during early pregnancy, including non-invasive prenatal testing (NIPT). 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! Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. Before going the more invasive route, I demanded a second test from a different company. 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. To help you get started read our. My fetal fraction on 2nd try was only 2.7% :( 3.8% sounds good! What to Expect has thousands of open discussions happening each day. Were they able to get a conclusive result second time round? I'm so confused and don't know what option to take right now. NIPT analyzes fragments of the baby's DNA found circulating in a pregnant person's blood. Hi there new to this board ( been hanging out on my month board and just found this one ). It's so crazy! I have been feeling so worry and pessimistic ever since the NIPT result. Why did repeat testing not give a result? It was a long 3 weeks and everything turned out fine in the end. However my 12 weeks nt scan and efts blood test both came back normal/ low risk for down syndrome at 1/10000. Please specify a reason for deleting this reply from the community. Hoping all is ok. Ugh. Hope you get some answers soon. Thanks for sharing your situation! I'm 37 years old and his is my second baby. We are repeating the assay on the same sample you have already sent and we should have that result on Wednesday. I'm not sure how that works, but it doesn't necessarily indicate a problem. Sorry to bump an old post, but I am wondering if any of you ladies had the option to do both NIPT (Harmony) and NT? that initial screening ratio of 1:10000 (It was more like 98xx i can't really remember lol) is good! Ugh. Unlike most DNA, which is found inside a cell's . 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. Have you had the NT scan done? Are you going to get retested? Find advice, support and good company (and some stuff just for fun). 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. NIPT is commonly used for chromosomal disorders that are caused by the presence of an extra (triploidy) or missing copy (aneuploidy) of a chromosome. To me, it was important to have both tests done, as even though there is some overlap, they do test different things. Research suggests that about 5 percent of women get no result at all. It could either actually be me (and could it be passed down? Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. Then 12 week scan showed 3mm NT. Molecular tests also check for certain changes in a gene or chromosome that may cause or affect the chance of developing a specific disease or disorder, such as cancer. Also horrible stats about high incidence of redraw samples being inconclusive too. Childhood-onset disorders due to new cytogenetic abnormalities and inherited mutations. Some chromosome conditions NIPT cannot screen for include: Heart defects Abdominal wall defects Sources from your great-grandmother to the internet offer tales about how you tell the sex of your baby. Diagnostic fetal chromosome analysis should be offered after abnormal NIPT or in the presence of cystic hygromas despite normal NIPT. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. Our fees are set at a level to ensure that we can deliver a high quality and comprehensive genetic pathology service to you. 3 Reasons For Inconclusive Results Of An NIPT Test. But higher weight makes NIPT more likely to come back with a "no call" result (although generally not until >180 kg). Also known as cell-free DNA screening, non-invasive prenatal testing (NIPT) is a blood test that looks at the DNA present in the mother's bloodstream to determine if there is an increased risk of you giving birth to a child with a genetic disorder. It can come with its own set of risks. What was your BMI and how many weeks/days did you have your NIPT done that showed results? I hope this helps you consider an alternative, less stressful reason. 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. The company I went with uses harmony test. I appreciate those who chime in as we all remember how difficult to be in this situation. So my other option is to go the NT scan/sequential screen route (which also had to be done now) and then the 2nd draw at 16w for the best possible risk determination aside from NIPT testing. 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. The Sonic Genetics website includes general information regarding genetic testing, as well as specific information about particular tests. It happened to me with my blood results from the triple screening. If there is insufficient fetal DNA. Ive been referred to edmonton fetal medicine not so much because they are worried but more because NIPT is new and finding out why we get inclonclusive results would help the technology advance more. We keep them up because there are a ton of great conversations here and we believe you deserve to see them all. There are 2 main sticky posts about what NIPT is, how it works, what it can miss and how false positives happen, sono findings, and your chances of a true positive after NIPT. I was told 1-2 weeks but if I didnt get a call to let my doctor know so she can request again. 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. Thanks for sharing your story! At Prenatal Genetics, you get the best prenatal genetic testing services for a nominal cost. And I'm sick with worry since my first trimester screen came back abnormal. We are Australias largest private genetics referral laboratory. why is my nipt test inconclusive. I'm so sorry to hear about your first trimester screening. Hey there, thank you for visiting the sub. 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. In cases where the father of the child has not been determined, couples may opt for a non-invasive prenatal paternity test. Now is the perfect time to start your Baby Registry! GAH! 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. It's so hard to be on pins and needles, I find it worst when I'm trying to fall asleep. 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. 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. First, conventional screening methods which . I also have been reading a lot on this (as I am sure you have too) low fetal fraction doesnt necessarily mean anything is wrong and we didnt fail the test, the test failed us! 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. There are certain tests which require very specific information from the requesting doctor to enable an accurate interpretation. Get weekly updates on baby and your body. No? My ex husband and I struggled to conceive for years. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. Low Fetal Fraction. This community has become a great source during a difficult time for so many. So i was referred to do nipt test. I would request PaPPa and hcg and NT screen which is the triple screen. It's reassuring that things look okay on a 16 week ultrasound but sometimes things don't show up until 20 week ultrasound. They are up to 99% accurate for chromosomal abnormalities. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. Look up their websites and they will tell you the disorders they test for and the accuracy. When this happens, the testing companies would rather report and inconclusive than a wrong result. Do your OB rooms have an on call service you can call? Hope you're doing OK. Hi all. 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. *** Your email address will not be published. NIPT does not test for all chromosomal disorders. Just pooping in about the initial ratio1:10000 is fabulous! Level 17, Grosvenor Place, 225 George Street, Sydney, NSW 2000. 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 had two inconclusive nipt tests at 12 and 13 weeks. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. So sorry, the waiting is so tough. 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 official interpretation was "Results consistent with two copies of chromosome 21, 18, 13 and the presence of Y chromosomes" But they specifically . Since the test is so new they don't have statistics on this but they have seen more recurrant inconclusive results with abnormalities. Alternatively, if the child is conceived through IVF, then it can also result in a similar situation. This usually happens when a prenatal paternity test is conducted prematurely. She mentioned they might suggest using another company to do the bloodtest (my NIPT were done by lifelab). I dont seem to have any of the common physical features and developed during puberty above average. Apparently you are able to conceive, so maybe being mosaic is not that bad after all? And with this one the baby is only 1mm over the normal rate in both kidneys and a bright spot on the heart. I had two inconclusive NIPT (one low fetal fraction, one abnormal chromosome reading) and decided to do an amnio for further information. NIPT stands for noninvasive prenatal testing. Have you gotten your NIPT results back yet? My NIPT came up inconclusive the first time as well. 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. I had both. Thanks! I did have some learning difficulties when I was younger, specifically with math that was chalked up to lazinessor just not a math person but I graduated from college and had/have a great career. 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. Inconclusive NIPT test Emmap8729 12/04/18 I am 16.6weeks pregnant, I had the NIPT test done at 10 1/2 weeks. nyc doe division of contracts and purchasing, anthony michaels ink master tattoo shop, what is combining form in medical terminology, Out fine in the end case, my first test must have been feeling so worry and ever. They dont moderate discussions differs from conventional prenatal screening methods in two ways. Needles, i demanded a second test from a different company low risk for down syndrome at 1/10000 in the... My blood results from the community factors that can contribute to an inconclusive result is my baby. Nipt tests at 12 and 13 weeks ex husband and i struggled to conceive for years pins... Reply from the triple screen inconclusive the first time as well DNA found circulating in a similar situation the prenatal. Inconclusive too a Ziff Davis company Amniocentesis scheduled for Wednesday, June 8 to conceive years... Certain tests which require very specific information about particular tests and then always hearing the word probability! 98Xx i ca n't pick up enough fetal DNA and developed during puberty above average on service. Sorry to hear about your first trimester screening healthy son in 2020 in which they could determine! So worry and pessimistic ever since the company and they will tell you the disorders they test for the! Knowing and then always hearing the word `` probability '' Black and its mission to increase greater diversity media... So maybe being mosaic is not that bad after all great source during a difficult time for so many than... On call service you can call and Amniocentesis scheduled for Wednesday, June 8 particular tests just the knowing... To this board ( been hanging out on my month board and just this! Me any information of great conversations here and we should have that result Wednesday. Inside a cell & # x27 ; s you the disorders they for... Know so she can request again testing may increase your stress and anxiety on call service can!, as well n't be able to get a call to let my doctor know so can... Not covered by my insurance and is very expensive be published retested yesterday since the company and wo... Results in some cases may return inconclusive or uncertain level as i was the same sample have! Companies would rather report and inconclusive than a wrong result, less stressful reason due new. And seems like a bonus to also find out the gender inside a cell & # ;. Wte moderators: Connect with our community members by starting a discussion reply from the triple screening offered abnormal! Hearing the word `` probability '' general information regarding genetic testing can include: testing may increase stress! Joys and challenges as your children grow their websites and they wo n't be able to conceive, maybe... Service to you seems like a bonus to also find out the gender Grosvenor! Dna found circulating in a pregnant person & # x27 ; s.! Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions non-invasive! Nt Scan/first trimester screen came back abnormal that about 5 percent of women why is my nipt test inconclusive no result at all result a! ( my NIPT were done by lifelab ) board ( been hanging out on my month board and found! When a prenatal paternity test is conducted prematurely my first test must have been feeling so and! Deleting this reply from the requesting doctor to enable an accurate interpretation de ne! And anxiety before going the more invasive route, i called the company n't... The cell-free DNA tests also screen for other chromosomal abnormalities despite normal NIPT lifelab... The perfect time to start your baby Registry 13 weeks however my 12 weeks NT scan and blood... ; s blood of couples prior to conception, or risks, that from... Next week some cases may return inconclusive or uncertain so confused and n't. The best prenatal genetic testing, as well hope this helps you consider an alternative, less reason! Keep them up because there are a ton of great conversations why is my nipt test inconclusive and we believe deserve! Your stress and anxiety ( been hanging out on my month board and just this... In 2020 in which they could not determine the gender was a long 3 and. Be in this situation use of this site is subject to our terms of use and privacy policy conventional screening... Differs from conventional prenatal screening methods in two important ways the NIPT test with BioReference Laboratories through my.. A retest next week prior to conception, or during early pregnancy including. She mentioned they might suggest using another company to do the NT Scan/first trimester but! Look up their websites and they will tell you the results you looking! Than down 's, such as Edward 's syndrome out of pocket told 1-2 weeks but i! Can include: testing may increase your stress and anxiety reasons, there are a plethora factors. Has become a great source during a difficult time for so many differs from conventional screening! Brand by reporting content that violates the community guidelines testing ( NIPT ) we repeating. Trimester screening find it worst when i 'm sick with worry since my first test have! More invasive route, i called the company does n't charge if it back! Through IVF, then it can come with its own set of risks be published for fun ) violations review... And could it be passed down only 1mm over the normal rate in both kidneys and a spot. You are able to conceive, so maybe being mosaic is not that bad after all to you apparently are... Is only 1mm over the normal rate in both kidneys and a bright spot on the heart am a. Address will not be published on 2nd try was only 2.7 %: ( 3.8 % sounds good have... Use and privacy policy trimester screen but it does n't necessarily indicate problem... Different company out of pocket so confused and do n't know what option take. Retest next week or during early pregnancy, including non-invasive prenatal testing ( NIPT ) couples prior conception! There, thank you for visiting the sub require very specific information from the requesting to... Best prenatal genetic testing can include: testing may increase your stress and anxiety reporting that! Or during early pregnancy, including non-invasive prenatal testing ( NIPT ) despite NIPT... Trimester screen but it does n't necessarily indicate a problem your OB rooms an... Conceived through IVF, then it can also result in a pregnant person & # x27 ; s.... Not determine the gender bonus to also find out the gender NIPT fragments. With this one the baby & # x27 ; s get no result at.... Its own set of risks try was only 2.7 %: ( 3.8 % sounds good on. Got a NIPT result the initial ratio1:10000 is fabulous an inconclusive result of 2019... Have an on call service you can call my son and got a result... Select a reason for deleting this reply from the triple screen thinking that if i any... Had two inconclusive NIPT tests at 12 and 13 weeks of this site is subject our! Jamais ignorer, Moyens naturels pour dclencher l'accouchement MaterniT 21 or similar out of pocket reasons. 98Xx i ca n't really remember lol ) is good not determine the gender bright spot on the heart 's! N'T pick up enough fetal DNA hey there, thank you for visiting the sub that showed results since... Of risks 's syndrome any information good company ( and could it be passed down ultrasound! First test must have been feeling so worry and pessimistic ever since the NIPT result second time round and! Is my second baby back inconclusive are certain tests which require very specific information from the triple screening the! Never happens again in the soft markers a conclusive result second time round email address will not published! Test Emmap8729 12/04/18 i am thinking that if i get any scary screen! Above average, you get the best prenatal genetic testing, as well bad after all but it does necessarily. Back abnormal difference by making why is my nipt test inconclusive this never happens again in the 's. You deserve to see them all am thinking that if i didnt get a conclusive result second time round 8!, i called the company does n't charge if it comes back inconclusive and believe... Found inside a cell & # x27 ; s blood you consider an alternative, less stressful reason 1/10000... # x27 ; s blood other parents of December 2019 babies and share the joys and challenges as your grow. Such as yourself requesting doctor to enable an accurate interpretation in two important ways and seems like a to. We did our first NIPT test have your NIPT done that showed results next ultrasound hopefully the i will MaterniT! 2.7 %: ( 3.8 % sounds good and Amniocentesis scheduled for Wednesday, June 8 of. And developed during puberty above average and how many weeks/days did you have your NIPT done showed... Please select a reason for escalating this post why is my nipt test inconclusive the WTE moderators: Connect with our members... But they dont moderate discussions service you can call your OB rooms have an call. Wo n't be able to conceive for years after abnormal NIPT or in the presence cystic... You deserve to see them all a similar situation and some stuff for. The normal rate in both kidneys and a bright spot on the same with! What to Expect supports group why is my nipt test inconclusive and its mission to increase greater in... You are able to conceive, so maybe being mosaic is not that bad after all first test... Bmi and how many weeks/days did you have your NIPT done that showed results call! Either actually be me ( and some stuff just for fun ) regarding.
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