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. Hope you're doing OK. Hi all. I swear I'm going to take a loooooong break before having anymore kids because this pregnancy has been extremely stressful! Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. I'm only 24, with two previous healthy pregnancies & babies. I wish you and your baby boy all the best too! 127 BPM! Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. What was your BMI and how many weeks/days did you have your NIPT done that showed results? Its a super common result with natera / panorama so youll find lots of people in your situation. All results came back low risk for downs however noted inconclusive result for chromosome abnormality. But I wish you all the best! For my first baby In 2019 I used the Invitae NIPS and it came back with no issues. Sex chromosome aneuploidy was frequently suspected on NIPT. After the many concerns my daughter ended up just perfect. Went back yesterday and did a redraw, and now I'm hoping this one takes. There are a few other reasons for odd results. Hello! My nipt/panorama/harmony results came back inconclusive both times. Childhood-onset disorders due to new cytogenetic abnormalities and inherited mutations. 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. 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 contact the moderators of this subreddit if you have any questions or concerns. Also for fun, i found a lady who does private ultrasounds who comes to my house and gave me a 3d ultrasound and little bug looks fine to me and its reassuring. . 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. To help you get started read our. 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/. I'm so confused and don't know what option to take right now. You have all been so supportive, thank you so much. 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). Use of this site is subject to our terms of use and privacy policy. So, a "normal" NIPT result doesn't guarantee a healthy baby, and an "abnormal" result doesn't mean your baby definitely has a certain condition. the most helpful and trustworthy pregnancy and parenting information. Well, my failed NIPT test didn't negate me from the option of having the NT as well. An analysis of genes modifying the risk of disease or responsible for familial disorders of the immune system. Definitely something to bring up. 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. I just found out today at 12.5 weeks that my test was not conclusive. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. 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. Is the NIPT test conclusive? One such factor is high maternal weight. harry hill family. All rights reserved. Analysis of genes involved in drug metabolism and hypersensitivity, allowing clinicians to prescribe with confidence. I wouldn't necessarily do the amnio for that if the baby is otherwise healthy. It's. And what was your BMI? 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. I just found out my nipt results were inconclusive and I really wasnt stressed before but now I am. I'm glad it went well for you in the end, and seeing the baby in 3D sounds reassuring and nice!! She mentioned they might suggest using another company to do the bloodtest (my NIPT were done by lifelab). Now Im seeing that inconclusive results are associated with a higher risk of chromosomal issues as well as GD and preeclampsia. What Can NIPT Tell You? Unfortunately, having a T18 also makes it more likely to get a "no call" result. 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. You are right! 16 week ultrasound scheduled for Monday, June 6 and Amniocentesis scheduled for Wednesday, June 8. 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. I had two inconclusive nipt tests at 12 and 13 weeks. In our case, the NT was perfectso we decided to submit a 2nd sample for testing and it came back positive for trisomy 13. Bec all the research says for Mosaic Turner, the girl will be short in stature, have problem in math, and also will be infertile. Their counselers recommended further testing and genetic counseling. The couple decided that they wanted to know if there was a chance that the baby had Down's Syndrome and privately paid for a blood test known as NIPT - a non-invasive prenatal test - which. The procedure is pretty straightforward, a blood sample is drawn from the pregnant woman that contains cell-free fetal DNA, which will give the DNA of the unborn child. So frustrating and upsetting for you! sm1232, did you receive your results? Anyone else have this come up? Which made me really nervous, would that really be necessary, when my other results (the NT and efts) were fine with low risks? My NIPT came up inconclusive the first time as well. Inconclusive NIPT test Emmap8729 12/04/18 I am 16.6weeks pregnant, I had the NIPT test done at 10 1/2 weeks. There are some options filled in, but you can also write in your own result. Noninvasive prenatal testing (NIPT), is a screening test for determining the risk of certain chromosomal abnormalities in the fetus. Collection centres for all other genetic tests, Genetic counselling for other heritable disorders, Genetic counselling for selected familial disorders, Reproductive carrier screening genetic counselling. Some chromosome conditions NIPT cannot screen for include: Heart defects Abdominal wall defects My EFT done at 13weeks came high risk and did NIPT around 15 weeks (harmony) results came back after a week with extreme low risk. Have you gotten your NIPT results back yet? 2005-2023Everyday Health, Inc., a Ziff Davis company. They have offered me a redraw. Im barely 53, but I have about a half an inch in my older sister and come. 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? Half of my cells are missing an X chromosome so it didnt manifest itself too clinically with me and I knew nothing of it for 35 years. Being scheduled for follow 15+3, originally didnt want extra testing beyond Trisomy 18 positive - any chance of false positive? Your post will be hidden and deleted by moderators. After hearing so many inconclusive NIPT results or issues do you know if there is another option/testing I can request? On the report, this is called a "low fetal fraction". Thus, if you received no result during your non-invasive prenatal paternity test, then it might be best to check if any of these 3 factors might be in play. Hoping all is ok. But I'm still a nervous wreck! We aim to be fair and reasonable with our fee structure. Welcome to Abnormal NIPT screening results! Getting my blood redrawn tomorrow. 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). 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. And I'm sick with worry since my first trimester screen came back abnormal. The company I went with uses harmony test. Often Now is the perfect time to start your Baby Registry! She should hopefully have a happy healthy baby now.. Hi guys, currently in the same boat. 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. 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. The performance of NIPT is affected by several factors including maternal obesity, which results in a greater rate of no-calls for obese pregnant women. My intention is that you have as much information about what may be going on and can make informed decisions with your treatment team moving forward. Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. They told me there wasn't enough fetal DNA in my blood to accurately complete the test. It's new. TX: IUI #1 with Follistim. 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. I was worried too, so I did a bit of research on it. Please dont look google to find out. I am definitely going to try to stay away from google. Why should I choose Sonic to perform my NIPT? 5/23: 3rd beta: 4000.6 + saw gestational sac and yolk sac. Are you going to get retested? Do your OB rooms have an on call service you can call? I'm sorry to hear that! 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. Common Abnormalities Are: Down syndrome (trisomy 21 . I would request PaPPa and hcg and NT screen which is the triple screen. Its 100% accurate (I believe). 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. Getting my blood redrawn tomorrow. Anyone else have this come up? Anyway my obgyn receptionist scared me a bit (I know it wasnt on purpose) when she said she has never seen inconclusive results twice, and that geneticist might recommend me to do an amniocentesis?? Identifying the genetic basis of familial disorders that affect children and adults. It's my understanding that while they both screen for Down's, the NT provides information on "soft" markers. Manal92! 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, Why did repeat testing not give a result? Please thank your mum for me. Just got my 2nd no result today. 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). So sorry, the waiting is so tough. I won't be able to relax until my next ultrasound hopefully the I will see a decrease in the soft markers! There are many reasons NIPT may not give a result. 2005-2023Everyday Health, Inc., a Ziff Davis company. Thank you for sharing your story as mine is very similar with yours. 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. 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. That only happens in 1% of tests. Meet other parents of July 2021 babies and share the joys and challenges as your children grow. At Prenatal Genetics, you get the best prenatal genetic testing services for a nominal cost. I think in my case, my first test must have been borderline. 5/30: 4th beta: 17,852 + saw fetal pole and heard heartbeat! It can be caused by being plus sizedsomething about the blood concentration being different or something. NIPT stands for noninvasive prenatal testing. Another blood draw at a later week of pregnancy may have more fetal DNA so that we can get a high quality . It has to be at least above 4 percent to give a conclusive result. If I could go back, I would skip the NT scan. The non-invasive prenatal test (NIPT) is an accurate screening test for common trisomies, sex chromosome aneuploidies and other selected chromosome abnormalities.
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