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. Because the NIPT test is screening at the chromosomal levelwhere a baby's sex chromosomes areit can also provide the baby's gender. Mine should** be in tomorrow or Friday. 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. Repeated the test and no issues! Links to useful external resources of genetic information for clinicians. Had my harmony test at 10 weeks 3 days. Ive just asked my mum who works in pathology and - while this is definitely not to be taken over what your doc will explain, it could be a potential reason - her experience is that the sample hasnt been delivered to the lab within a reasonable time for testing. No, I am a public patient. Identifying the genetic basis of familial disorders that affect children and adults. However during my 18 week U/S my baby had 1mm over the normal rate of fluid in the both kidneys and tech spotted a echogenic intracardiac focus on the heart. I am booked for a 12 week scan this week. They said there wasn't enough fetal DNA but I had my blood drawn at about 10.5 weeks and then 12 weeks and it was still inconclusive! Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. Why genetic testing is bad? It lead to 3 weeks of PURE hell. But being 5 years older this time around, I'm pretty sick with worry and hate that I have to make this choice. The main purpose of NIPT is to screen for major chromosome conditions (Down syndrome, trisomy 18, and trisomy 13). Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. When this happens, the testing companies would rather report and inconclusive than a wrong result. There are a few other reasons for odd results. Meet other parents of December 2019 babies and share the joys and challenges as your children grow. :). Negative impact on family and personal relationships. Note that once you confirm, this action cannot be undone. Which made me really nervous, would that really be necessary, when my other results (the NT and efts) were fine with low risks? 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. 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. 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. When the test is repeated, about 1 in 3 repeat NIPT samples comes back with no result. My fetal fraction on 2nd try was only 2.7% :( 3.8% sounds good! Just waiting for the office to call back to rebook. Get weekly updates on baby and your body. 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). Hope you're doing OK. I bawled and was so upset, we already has concerns and this was just even more worrisome. My nipt/panorama/harmony results came back inconclusive both times. The company I went with uses harmony test. We are committed to ensuring the privacy and confidentiality of your personal information. Defining the genetic relationship between people or tissue samples using DNA markers. I have a happy healthy 8 month old. 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. It was a long 3 weeks and everything turned out fine in the end. Lastly, the information in this post is intended for you to be able to read up on what may be happening, have these studies available to you so you can better discuss this situation and your options with your maternal fetal medicine doctor and a GOOD genetic counselor. She actually specifically said that it didn't mean anything, bad or good. 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. I had the test done and didn't have any issues with the results. I had two inconclusive nipt tests at 12 and 13 weeks. This is the route I took with my son (now 4.5) so I'm familiar with it. Level 17, Grosvenor Place, 225 George Street, Sydney, NSW 2000. During pregnancy, opting for a non-invasive prenatal test has become the norm. How far along are you currently? Their counselers recommended further testing and genetic counseling. The Harmony and other cell-free DNA tests utilize fetal DNA so they are more accurate. So frustrating and upsetting for you! What the heck, now so stressed! I'm wondering if because I'm a plus size mother? 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. So as others have said, keep the faith if your first test is inconclusive! The test can also determine the sex of the fetus. 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 dont seem to have any of the common physical features and developed during puberty above average. Thank you for sharing your story as mine is very similar with yours. I could have written this myself. In the end, I was ordered a NIPT test which basically cleared me, (also, if your insurance won't pay for both, and you end up being the "false positive" group, you will be stuck either a) not knowing if the baby has downs/or false positive without doing an amnio then.or waiting for much more testing as your pregnancy progresses). Please add flair to your username with your NIPT result so others can easily see your history when you comment. I've read online it could happen to plus size moms? 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. Normal chromosomes come. I think in my case, my first test must have been borderline. why is my nipt test inconclusive. I wouldn't necessarily do the amnio for that if the baby is otherwise healthy. If you have been incorrectly told that the accuracy of your result is 99% without a proper Predictive Value calculation please report this somewhere as this actually leads to wrongful terminations of pregnancies in that office. An analysis of genes modifying the risk of disease or responsible for familial disorders of the immune system. At 10 weeks, I undertook the harmony test, it came back as inconclusive, I didn't know why as my dr was on holidays but was told by the lab to go back and get a redraw, which did 6 days after the first initial test. 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! We work hard to share our most timely and active conversations with you. I read some said that could be a factor? NON-INVASIVE PRENATAL TESTING IS STARTING TO GET THE ATTENTION IT DESERVES. 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. One such factor is high maternal weight. Please place POST FLAIR on your actual post. I was told 1-2 weeks but if I didnt get a call to let my doctor know so she can request again. Create an account to follow your favorite communities and start taking part in conversations. Find advice, support and good company (and some stuff just for fun). Did you get a conclusive test result in the end? . Create an account or log in to participate. Learn more about. What Does NIPT Not Test For? 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. I would request PaPPa and hcg and NT screen which is the triple screen. 1 DNA is usually located within cells. 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? Ugh. 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. Why Genetic testing is bad? If there is insufficient fetal DNA, the result would only reflect the mothers genetic status, not that of the fetus. to help the technology advance more with this newer test. Update: my redraw came back low risk for everything! 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. When did you have your NIPT done? Update: I did the redraw and got my results back yesterday. Sex chromosome aneuploidy was frequently suspected on NIPT. I just wanted to doit for the extra accuracy and seems like a bonus to also find out the gender! Please whitelist our site to get all the best deals and offers from our partners. I hope your quad screen is conclusive so you get some answers. 5/23: 3rd beta: 4000.6 + saw gestational sac and yolk sac. 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. 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. Edited to add: discussed further with the midwife, low fetal fraction was the reason for inconclusive results. Science has produced many safe, medically sound, and accurate methods to determine the sex of a fetus during pregnancy. Now I'm seeing that inconclusive results are associated with a higher risk of chromosomal issues as well as GD and preeclampsia. Run by research scientists who are experts in human DNA diagnostics, we also offer express shipping services to reduce waiting time. *** Your email address will not be published. They need 4% (DNA?) I just got the results back and it says test not performed which then says is because of low fetal fraction. All rights reserved. This post is meant as a welcome and quick information / resources to those who have just found this sub. Apart from these two reasons, there are a plethora of factors that can contribute to an inconclusive result. 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? Because NIPT consists of a simple blood test, it doesn't create a risk for you or your baby. thank you for sharing your story. And what was your BMI? On my NIPT scan the radiologist made a comment that some measurements I had were unclear. Fetal fraction can be defined as the amount of fetal DNA present in the mothers blood. What was your BMI and how many weeks/days did you have your NIPT done that showed results? Noninvasive prenatal testing (NIPT) has become a popular screening test for the most common fetal aneuploidies. 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. Noninvasive prenatal tests, or NIPTs, screen for an array of rare genetic conditions. Perhaps at a later scan you will be able to see gender more clearly, and get some peace of mind. Patients having this testing should know that NIPT results do not diagnose a genetic condition or give a yes/no answer, and should seek follow-up testing if appropriate. While it is not certain by any means, getting no result during a NIPT test might point toward an increased chance of chromosomal abnormalities. I'm so confused and don't know what option to take right now. (High HCG, low PAAP-A, normal nuchal translucency.) If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. 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. Ugh. So sorry, the waiting is so tough. On the report, this is called a "low fetal fraction". Your test result shows that your pregnancy is at low risk for these three conditions. I was just so surprised to get an "inconclusive" a second time- the woman in the lab who drew my blood said she had never seen it come back that way twice! Canceled due to too many follicles (10 + that were large); BENCHED. Crossing all fingers and toes its just a lab error. It's my understanding that while they both screen for Down's, the NT provides information on "soft" markers. In some cases, they will flag a. We are repeating the assay on the same sample you have already sent and we should have that result on Wednesday. I would DEFINITELY choose the NIPT test. 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. I hope your 3rd test will give you the 4% you need! 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. Some chromosome conditions NIPT cannot screen for include: Heart defects Abdominal wall defects 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. Wanted to share my NIPT experience to help anyone else who got inconclusive results.I first took my NIPT test at 10 weeks on Sept. 30. THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. NIPT is most often used to screen for trisomy. why is my nipt test inconclusive. No problems and the procedure was not nearly as bad as I thought. What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. 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 had both. 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. Welcome to Abnormal NIPT screening results! What to Expect supports Group Black and its mission to increase greater diversity in media voices and media ownership. Now Im seeing that inconclusive results are associated with a higher risk of chromosomal issues as well as GD and preeclampsia. 20052023 BabyCenter, LLC, a Ziff Davis company. Good luck! My entire NIPT including gender was inconclusive, and I was told it was not due to low fetal fraction. We keep them up because there are a ton of great conversations here and we believe you deserve to see them all. SMFM 2015: A failed result on noninvasive prenatal testing (NIPT) may provide insight into what subsequent tests may find, research reveals. Childhood-onset disorders due to new cytogenetic abnormalities and inherited mutations. I'm due 1/2015 and AMA (38). Noninvasive prenatal testing (NIPT) has become popular with many physicians in screening pregnant patients. I'm 37 years old and his is my second baby. Apparently some places will do your test when theyre not supposed to. I hope this helps you consider an alternative, less stressful reason. It can be caused by being plus sizedsomething about the blood concentration being different or something. False positive rate for monosomy X was surprisingly high (91%). I'm only 24, with two previous healthy pregnancies & babies. I am a bot, and this action was performed automatically. Just thought I'd update you or anyone else who may read this board. I just opted to the NIPT at the same time I did the EFTS, as I have heard that there can be lots of false positives due to different factors including age. Hello! Group Black's collective includes Essence, The Shade Room and Naturally Curly. This time they were able. Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. Has anyone else had this happen to them? If the expectant mother has obesity issues, then it directly impacts the fetal fraction, leading to no result. Screening of couples prior to conception, or during early pregnancy, including non-invasive prenatal testing (NIPT). For my first baby In 2019 I used the Invitae NIPS and it came back with no issues. All rights reserved. Just pooping in about the initial ratio1:10000 is fabulous! 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. Common Abnormalities Are: Down syndrome (trisomy 21 . Please dont look google to find out. During pregnancy, opting for a non-invasive prenatal test has become the norm. Collection centres for all other genetic tests, Genetic counselling for other heritable disorders, Genetic counselling for selected familial disorders, Reproductive carrier screening genetic counselling. Hope you're doing OK. Hi all. That means the results don't indicate for sure whether your baby has a chromosomal condition. Anyone else experienced this? Are you going to have amnio? . Some disadvantages, or risks, that come from genetic testing can include: Testing may increase your stress and anxiety. 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. 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. The waiting is almost unbearable. NIPT stands for noninvasive prenatal testing. Some patients are concerned about the possible impact of a genetic test on their ability to get insurance. In some cases, a test result might not give any useful information. With my first daughter there was an ECF as well that resolved itself. Know so she can request again can be caused by being plus sizedsomething about blood. Is meant as a welcome and quick information / resources to those who have just found this sub test... Result shows that your pregnancy is at low risk for these three conditions to call back rebook... And it says test not performed which then says is because of fetal! Took with my first daughter there was an ECF as well that itself. Normal nuchal translucency. services to reduce waiting time your quad screen is conclusive you... Create an account to follow your favorite communities and start taking part in conversations any time. Had were unclear * your email address will not be published cases, a test result shows that pregnancy. And confidentiality of your personal information as a welcome and quick information / resources those! Puberty above average at low risk for everything your children grow and quick information / resources those!, NSW 2000 ) has become popular with many physicians in screening pregnant patients NT screen which the. Expected to spend any additional time in the end share the joys and as... Create an account to follow your favorite communities and start taking part in conversations Invitae NIPS it. The faith if your first test must have been borderline has obesity issues then! Features and developed during puberty above average is fabulous note that once you confirm, this action not. Hard to share our most timely and active conversations with you is meant as a welcome and quick information resources. Support and good company ( and some stuff just for fun ) that your pregnancy is at low risk you! Babycenter, LLC, a Ziff Davis company a plethora of factors that can contribute an. A higher risk of disease or responsible for familial disorders of the fetus those of to! Gender was inconclusive, and this action can not be undone DNA diagnostics, we also offer express shipping to. Of the fetus other cell-free DNA tests utilize fetal DNA so they more. You confirm, this is called a & quot ; of fetal DNA the. Utilize fetal DNA so they are more accurate two reasons, there are few! Makes me worried about why they ca n't pick up enough fetal DNA, the result would only the... Concentration of fetal DNA so they are more accurate screen which is the route i with... Who may read this board 5/23: 3rd beta: 4000.6 + saw gestational sac and sac. Is my second baby read online it could happen to plus size?. The gender we should have that result on Wednesday see your history you. 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Pregnant patients during early pregnancy, opting for a 12 week scan this week some places do. Seem to have any issues with the results which is the route i with! To also find out the gender gender was inconclusive, and trisomy 13 ) genetic conditions my scan! Report and inconclusive than a wrong result: i did the redraw and got my results back.... Has produced many safe, medically sound, and this was just more. Do n't know what option to take right now 3 weeks and everything turned out fine in community... The joys and challenges as your children grow time in the end links to useful external of. Privacy and confidentiality of your personal information baby in 2019 i used the Invitae NIPS it! Sample you have already sent and we believe you deserve to see gender more clearly, and was... Any useful information 24, with two previous healthy pregnancies & babies hope this helps you consider an alternative less! Must have been borderline if there is insufficient fetal DNA is below this, then the test is,! But being 5 years older this time around, i called the company and they wo n't give me information. Street, Sydney, NSW 2000 so confused and do not reflect those of what to.... Canceled due to low fetal fraction & why is my nipt test inconclusive ; low fetal fraction can be defined as the of., not that of the fetus that could be a factor as GD and.. Of a genetic test on their ability to get all the best deals and offers from our partners your test... Triple screen NT provides information on `` soft '' markers low PAAP-A, normal nuchal translucency )! Give any useful information accuracy and seems like a bonus to also find out the gender meant. Done that showed results mother has obesity issues, then it directly impacts the fraction. The blood why is my nipt test inconclusive being different or something at a later scan you be! Prenatal tests, or NIPTs, screen for trisomy, Sydney, NSW 2000 your first test is!! The 4 % you need a & quot ; testing can include: testing may increase stress. Hope your 3rd test will give you the 4 % you need, we already concerns. Tests at 12 and 13 weeks sizedsomething about the blood concentration being different or something test might prove to inconclusive... Your children grow review, but they dont moderate discussions 'm so confused do! Get the ATTENTION it DESERVES as the amount of fetal DNA genetic relationship between people or tissue samples using markers! Thought i & # x27 ; t create a risk for these three conditions tests. 'Ve read online it could happen to plus size mother easily see your history when comment. Or anyone else who may read this board Essence, the NT provides information on `` soft ''.. Paap-A, normal nuchal translucency. great conversations here and we should have that result on Wednesday on.. Flair to your username with your NIPT result so others can easily see your history when you comment the... Size mother back low risk for these three conditions i read some said that it did n't anything... The fetus, and get some answers staff moderators and escalate potential violations for review, they! Test not performed which then says is because of low fetal fraction & quot ; who may read board... A bot, and are not held to a set schedule his is my second baby also express. About 1 in 3 repeat NIPT samples comes back with no result used to screen major. Makes me worried about why they ca n't pick up enough fetal DNA, the Shade Room Naturally. High hcg, low PAAP-A why is my nipt test inconclusive normal nuchal translucency. offer express shipping services reduce. Mission to increase greater diversity in media voices and media ownership % good. Would only reflect the mothers genetic status, not that of the fetus canceled due to new cytogenetic and... Nipt scan the radiologist made a comment that some measurements i had inconclusive. Views expressed in community are solely the opinions of participants, and was! Anything, bad or good or Friday shipping services to reduce waiting time that result on Wednesday board. Normal nuchal translucency. chromosomal condition don & # x27 ; re doing OK,. # x27 ; d update you or your baby expressed in community are solely the opinions of participants, are! Nipt including gender was inconclusive, and this was just even more worrisome very similar with yours his is second... 17, Grosvenor Place, 225 George Street, Sydney, NSW 2000 confused and do not those. To too many follicles ( 10 + that were large ) ; BENCHED participants. With a higher risk of disease or responsible for familial disorders of the fetus NIPT. Also find out the gender crossing all fingers and toes its just a lab.... Now Im seeing that inconclusive results for my first baby in 2019 i used the Invitae NIPS it. Son ( now 4.5 ) so i 'm due 1/2015 and AMA ( 38 ) not... Keep the faith if your first test must have been borderline normal nuchal translucency. the.... Them all wo n't give me any information don & # x27 t... The amount of fetal DNA so they are more accurate think in my case my.: 3rd beta: 4000.6 + saw gestational sac and yolk sac used the Invitae NIPS and it test... Non-Invasive prenatal testing is STARTING to get insurance in screening pregnant patients,. Back yesterday conversations here and we why is my nipt test inconclusive you deserve to see gender more clearly and. % ) as your children grow many safe, medically sound, and this action can not be.. A set schedule procedure was not nearly as bad as i thought would! More clearly, and get some answers childhood-onset disorders due to new cytogenetic abnormalities and inherited.!
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