Please whitelist our site to get all the best deals and offers from our partners. Also horrible stats about high incidence of redraw samples being inconclusive too. The #1 app for tracking pregnancy and baby growth. 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 . I'm only 24, with two previous healthy pregnancies & babies. Collection centres for all other genetic tests, Genetic counselling for other heritable disorders, Genetic counselling for selected familial disorders, Reproductive carrier screening genetic counselling. It's my understanding that while they both screen for Down's, the NT provides information on "soft" markers. NON-INVASIVE PRENATAL TESTING IS STARTING TO GET THE ATTENTION IT DESERVES. MaterniT21 positive for Down Syndrome. As PP said, inconclusive just means they couldnt get an accurate measurement. This usually happens when a, Non-Invasive Prenatal Baby Gender Blood Test. It can be caused by being plus sizedsomething about the blood concentration being different or something. That only happens in 1% of tests. If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. Best of luck! False positive rate for monosomy X was surprisingly high (91%). (High HCG, low PAAP-A, normal nuchal translucency.) I have been feeling so worry and pessimistic ever since the NIPT result. It's. Just got this email from the lab doing my test!!! I swear I'm going to take a loooooong break before having anymore kids because this pregnancy has been extremely stressful! 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. Sources from your great-grandmother to the internet offer tales about how you tell the sex of your baby. Hoping all is ok. 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. Good luck! This discussion is archived and locked for posting. They could well be inaccurate- most companies require at least 3%. 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. Edited to add: discussed further with the midwife, low fetal fraction was the reason for inconclusive results. Analysis of genes involved in drug metabolism and hypersensitivity, allowing clinicians to prescribe with confidence. To me, it was important to have both tests done, as even though there is some overlap, they do test different things. Don't despair if your grandmother's wisdom turns out to be little more than a good guess. 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. My NIPT came up inconclusive the first time as well. 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. Unlike most DNA, which is found inside a cell's . , the result would only reflect the mothers genetic status, not that of the fetus. They said I can get retested and said maybe cause blood had to fly from nz to au? No, I am a public patient. 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. 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. That means the results don't indicate for sure whether your baby has a chromosomal condition. In medicine, a laboratory test that checks for certain genes, proteins, or other molecules in a sample of tissue, blood, or other body fluid. This is a newish kind of screening test in which a blood sample from a pregnant woman is used to test for a range of genetic conditions in the fetus, with varying levels of certainty. As of now I have no cardiac or kidney problems but I will see specialists when this baby is born just to be sure. Someone please help calm my nerves! 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. I'm wondering if because I'm a plus size mother? Now Im seeing that inconclusive results are associated with a higher risk of chromosomal issues as well as GD and preeclampsia. Some chromosome conditions NIPT cannot screen for include: Heart defects Abdominal wall defects Genetic tests are frequently not covered by Medicare or private health insurance, Every sample from a patient is tested to determine whether there is sufficient feto-placental DNA to provide a reliable result. I would DEFINITELY choose the NIPT test. I was told this could have been b/c I'm overweight or because the test was done on the early side (close to 10.5w). My OB says she sees it all the time and they usually resolve themselves. I had two inconclusive NIPT (one low fetal fraction, one abnormal chromosome reading) and decided to do an amnio for further information. This is unlikely to be a lab mistake. I had my blood drawn for the NIPT test on 12/28. If the concentration of fetal DNA is below this, then the test might prove to be inconclusive. Easy to overthink (I sure did) and assume the worst - feels like Sod's law at the . NIPT is most often used to screen for trisomy. why is my nipt test inconclusive. Just pooping in about the initial ratio1:10000 is fabulous! This updates the flair on your username IN THIS SUB ONLY. They did not recommend further evaluation or testing with him. 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 I know its scary and I know my specific situation seems to be rare as far as lack of symptoms and what not so I cant give you any medical advice, but I can tell you that I am living a wonderful and fullfilling and I wish the same for your daughter no matter what the outcome. It's most likely the mosaicism, or a twin embryo that did not take. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. 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. 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. Prediction of other SCA was more accurate. yesteray on my 16 weeks scan they tell me it looks like a girl! It's just the not knowing and then always hearing the word "probability"! Had my harmony test at 10 weeks 3 days. Im barely 53, but I have about a half an inch in my older sister and come. 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, 20052023 BabyCenter, LLC, a Ziff Davis company. 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. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. Yes. 2) NIPT tests are more accurate and test for MORE genetic disorders (they also tell you sex, if you want to know). After hearing so many inconclusive NIPT results or issues do you know if there is another option/testing I can request? This time around it came back and said suspected maternal mosaciasm and completely inconclusive. So sorry to hear that! There are a few other reasons for odd results. You are right! So doesnt seem like Im low risk but My obgyn wants to refer me to see a geneticist to discuss possible next steps. The non-invasive prenatal test (NIPT) is an accurate screening test for common trisomies, sex chromosome aneuploidies and other selected chromosome abnormalities. Babies can be born with a change 20062023 BabyCenter, LLC, a Ziff Davis company. On my NIPT scan the radiologist made a comment that some measurements I had were unclear. The educational health content on What To Expect is reviewed by our medical review board and team of experts to be up-to-date and in line with the latest evidence-based medical information and accepted health guidelines, including the medically reviewed What to Expect books by Heidi Murkoff. Screening of couples prior to conception, or during early pregnancy, including non-invasive prenatal testing (NIPT). and mine came back at 3.7% and couldn't be read. thank you for sharing your story. [email protected] 1800 010 447 (Australia only) 1800 515 119 Hope you get some answers soon. Please contact the moderators of this subreddit if you have any questions or concerns. if i have another baby in the future, not sure if I will do the NIPT again lol. Your post will be hidden and deleted by moderators. Noninvasive prenatal tests, or NIPTs, screen for an array of rare genetic conditions. 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/. Interpreting non-invasive prenatal test (NIPT) results. On the report, this is called a "low fetal fraction". Results in some cases may return inconclusive or uncertain. All results came back low risk for downs however noted inconclusive result for chromosome abnormality. I was given the option to re-test (tomorrow) in hopes of results coming back conclusive. But how often do these tests fail to provide results, and what might such a result mean? also, when you got told you were being referred how long did you wait for McMaster to call? This occurs about 1 in every 150-200 samples. Everything came back low risk, so relieved and thankful. The #1 app for tracking pregnancy and baby growth. Please guide us. We are repeating the assay on the same sample you have already sent and we should have that result on Wednesday. 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. All rights reserved. 14/01/2022 22:06. Please thank your mum for me. This post is meant as a welcome and quick information / resources to those who have just found this sub. NIPT is commonly used for chromosomal disorders that are caused by the presence of an extra (triploidy) or missing copy (aneuploidy) of a chromosome. Press question mark to learn the rest of the keyboard shortcuts, MOD obgyn PA False Positive +T18 girl 2020, https://www.perinatalquality.org/Vendors/NSGC/NIPT/, https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/, https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/. What was your BMI and how many weeks/days did you have your NIPT done that showed results? Thanks! I do remember with my daughter it was advised that I do the test at 10 weeks and a few days so the fetal fraction is high. It can be caused by being plus sized.something about the blood concentration being different or something. I'm grateful insurance pays for both. Fingers crossed for u! Our fees are set at a level to ensure that we can deliver a high quality and comprehensive genetic pathology service to you. 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. Doctor said inconclusive NIPT could be because of my BMI or a chromosome problem. I just found out today at 12.5 weeks that my test was not conclusive. A failed test result will only be reported after testing of both samples) Inconclusive result. So frustrating!!! Please feel free to reach out if you need to vent, ask more questions or need more resources. I needed a NIPT done as there were MANY concerns on my 20 week ultrasound. So I just wanted to do it for a peace of mind with the higher accuracy and to also find out the gender early! And I'm sick with worry since my first trimester screen came back abnormal. Why genetic testing is bad? 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. I just found out today at 12.5 weeks that my test was not conclusive. 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. 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. We went with Myriad. NIPT stands for noninvasive prenatal testing. I just wanted to doit for the extra accuracy and seems like a bonus to also find out the gender! The Harmony and other cell-free DNA tests utilize fetal DNA so they are more accurate. If I could go back, I would skip the NT scan. The test can also determine the sex of the fetus. This has been really hard on me not knowing but there are so many what ifs.. When do you expect to get your results? Getting my blood redrawn tomorrow. All of your options are better than mine. Canceled due to too many follicles (10 + that were large); BENCHED. 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. Our baby showed up high risk for Turner syndrome and its quite the roller coaster ride. THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST. 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. your gp will sort it out for you love. 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