This test is so confusing because you read how accurate it is supposed to be but it’s always followed with, “even if you have high risk for blah blah, there’s a high chance your baby is healthy”. @Tqlina congratulations on the birth of your baby. I think the thing to remember about the NIPT tests is that they are only a screening test not a diagnostic test, there will always be the chance that you could be that “one” in however many hundreds or thousands! The placenta was sampled at 9 representative approximately equidistant positions, representing 9 equally large sections. Although NIPT has been reported to be highly accurate for the detection of the main fetal trisomies (trisomies 21, 18 and 13) , , a small percentage of women have false-positive, false-negative or unreportable results . It is important to remember that NIPT is a screening test which means that occasionally false positive and false negative results do occur. Given a cell-free fetal DNA fraction of 10.7%, this percentage of nontrisomic cells would not have been large enough to lower the fraction of aneuploid, fetal DNA below 4%. @aangelicaaa provided some good advice. So now we wait for that ultrasound. It is used to screen for Trisomy 21, 18 and 13 as well as sex chromosome aneuploidy. I have always taught them that being alive is a miracle and not everybody makes it into this world. Maternal weight and BMI were 70 kg and 22.4, respectively. Trying to have faith but baby also has a high NT. They were moving around SO MUCH I was in awe. I have also since learned that the tests are not even approved by the US Food and Drug Administration (FDA). Nevertheless, NIPT is not considered a diagnostic test and, in case of a positive NIPT result, follow-up invasive testing by chorionic villi sampling (CVS) or amniocentesis must be offered before a definitive diagnosis can be made [11, 12]. Some health conditions are more common in people with Down’s syndrome, although most medical issues can be treated. I had the cvs done today due to positive NIPT for T21 and am waiting results. Now just waiting for the Fish results this Friday and final results in 2-4 weeks. The MFM I am referred to is the same company my current OB works with. The only thing said about the ultrasound was how strong and healthy the heart beat was and how active the little one was. I really do hope you are able to find a new ob office sooner than later as for the Natera results, the same day I recieved the results from my OB I called Natera and asked them to further explain my results because I was literally having a panic attack and couldn’t understand, I was able to schedule an over the phone appointment the next day.. from my experience I would tell you to call Natera, and advocate for yourself and your baby, insist on making an appointment as soon as possible to speak with a genetic counselor.. Share with Tangle Teezer - £100 voucher to be won, Talk widget showing discussions of the day & trending threads, Subscribe to Mumsnet emails direct to your inbox,, NIPT has very few false negative results: almost all women with a ‘low chance’ result will not have a fetus with Down’s syndrome. They will post on my patient portal soon but I was hoping for more information before then. Emotionally, I’ve been crying on and off and also dreading to hear the results as I realize odds are against me. On one of the threads you shared someone said that after the surgery they slept better, etc. Im so sorry you are going through this stress and I hope all is resolved soon. This is page 1 of 1 (This thread has 10 messages.). I finally called today and they told me they have not even “triaged” my file and I have to see a genetic counselor first. something I realize after all of this is that the genetic counselor my ob referred me to (well she referred me to a perinatologist who has a genetic counselor) was simply just someone to provide information. I let her know that these things happen and it doesn’t mean we can’t have another baby. Our lives now revolve solely around having to bring up a child with Down syndrome … I am not impressed with their lack of responsibility, empathy, etc. I also had testing done through Natera, they would not post my results online until after my doctor released them. Hi all, I had a false negative with Natera Panorama's test. Hello, I just wanted to share my experience leading up to the diagnosis of my daughter Charlotte Rose having Downs. It is used to screen for Trisomy 21, 18 and 13 as well as sex chromosome … Eight biopsies had ≥70% trisomy 18 cells in both cytotrophoblast (average 78%; range 70–90%) and mesenchyme (average 78%; range 73–83%). Box 85090, Mail Stop KE04.123.1, 3508 AB Utrecht, Netherlands, Fetal DNA fraction (effective fetal DNA fraction), Explanation for false negative NIPT result, Amniocentesis showed 10% mosaicism for a cell line with +13, CVS showed 45% mosaicism for a cell line with both +18 and +21, 1/70 risk for tri-21 by combined 1st trim. We also had a postnatal diagnosis of Down syndrome following the birth of our son but we hadn’t had any of the screening tests as it wouldn’t have changed anything for us. I truly appreciate you keeping us in your prayers! I can honestly say that despite the good news from the amniocentesis, the NIPT result has put a huge dark cloud over my pregnancy and I have had to seek counselling for my anxiety. To look for mosaicism as an explanation, we examined multiple placental biopsies and karyotyped fetal cells. Finally, an international registry for systematic recording of all discordant NIPT results and their causes, as was done when CVS was introduced in prenatal diagnosis more than 30 years ago [13, 14], will provide insight into the frequency and causes of false negative and false positive NIPT results [11, 41]. I haven't had a false negative, but I have had the experience of a positive NIPT followed by a negative amniocentesis for T18. NIPT has been piloted as a second stage screening test for pregnant women in a number of NHS hospitals. so hopefully I feel the same way after some closure. Blood was taken at 13 5/7 weeks of gestation and sent overseas via an intermediate party. The NIPT analyses the cell‐free DNA derived from the placental tissue in the maternal circulation. We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed directly to the clinician. No call result: in a very small number of cases (1 in 200) tests may not yield a result for a variety of reasons. Making NIPT available on the NHS could be perceived as sending negative and hurtful messages about the value of people with the syndromes being tested for. It is a good idea to consider the need to be certain about the diagnosis compared to the risk of miscarriage associated with the invasive procedure. The nurse stated my obgyn did not feel comfortable seeing me and was referring me to perinatal specialist. In addition if the ‘combined test’ result is available, the SAFE test is able to incorporate this to provide a more individualised result. I’ll post a summary at the Babycenter thread (link I sent you) after I’m past it all and feel comfortable posting it. I have a feeling that when you see your actual test results the fetal fraction is going to be really low, so they barely had any fetal cells to test from, so I think the accuracy of the test is greatly diminished with a lesser amount of fetal dna. During this time, I had severe cramps(which I was advised was due to my uterine fibroids and all the hormones I took during the IUI) - good news the cramping stopped after about 1 week. Prepared for the worst. Both (as in my case)? The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. I hope your procedure is smooth. I have a 7 and 4yo. Therefore, cutoff values must be defined for discrimination between normal and abnormal results, and, as a consequence, NIPT is still considered a screening test and not a diagnostic test [11]. Delivering over 5,000 babies each year, the unit has achieved exceptional clinical outcomes, the highest possible external accreditation and boasts the highest ‘midwife: birth’ ratios in London. I have no idea what my increased risk report stated number wise or my fetal faction %. I think the roller coaster will continue for some time and thats okay and you’re right that the pain will never go away. Congratulations again, I hope you are getting all the information and support you may need x, Hello,would you might telling what measurement was baby NT on 12 weeks scan?I have no result from Harmony on 18 week blood re drew.I know it is a red flag,my scan looks ok,so I am freaking out.I am thinking about amino if they offer...I understand you didnt have amino?all best wishes for you.