nipt test false positive trisomy 13

They are more than happy to transfer the embryo as they have seen positive results but we also understand what else the outcome could be. We are in the exact same boat currently. My husband and I are ready to try for another one and while we have this precious embryo who would be loved just as much as our little girl we are unsure what to do! Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea. I had a high risk result for Trisomy 13 on my Harmony NIPT drawn at 10w3d - was listed as a 99/100 chance. We advised her to contact her obstetrician in Germany and we stressed the fact that before considering any irreversible action, confirmation by amniocentesis was warranted. And for that, I am forever grateful. Filter by flair can be useful to find similar questions. I am going through this now. first trimester, NIPT false positive, Pregnancy, prenatal testing, third child, Trisomy 13, Brittney, What is Trisomy 13 {no, it’s not Down’s Syndrome}? Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. In contrast, we can extrapolate the test characteristics to a high‐risk pregnant population of 1 000 000 women, with an expected prevalence, in the first trimester, of T13 at a ratio of 1:200, or 5000 fetuses with T13. Cookies help us deliver our Services. I felt like I’d been transported back to high school biology, learning about chromosomes all over again. I’d done this test in previous pregnancies, found out the gender, and went on my way. Before reading my story, I think it’s important you know that it has a happy ending. All of the tested samples thus far were selected from stored samples obtained from high‐risk pregnancies, and consequently the prevalence of T13 in this cohort was high. Only the first author of each study is given. In addition, the presence of confined placental mosaicism, or a lost, perhaps unrecognized, cotwin may result in a greater quantity of DNA fragments, from chromosome 13, in maternal plasma. I was meaning to post this ages ago, but never got around to it. I had the normal first trimester screening bloods and going for the NT scan tomorrow as well which will hopefully be reassuring while I wait! Terms and Conditions The initial phone call from my doctor came at 12 weeks, so it was a very long four weeks of waiting, praying, crying and just being completely wonderstruck and grateful that I had two healthy children. An absolutely beautiful miracle. Our other two children were so healthy. She said if the scan was clear today there is also no way she would do a CVS due to the possibility of confined placental mosaicism being so high under those circumstances. Thank you for sharing your story! This test, like the entire pregnancy, was in God’s hands. We are talking to a genetic counselor in 2 days to learn more, but we are leaning toward waiting until 16 weeks for the amnio instead of CVS. I’m doing great – it’s like I never had PPD before. NIPT primarily looks for Down syndrome (trisomy 21, caused by an extra chromosome 21), trisomy 18 (caused by an extra chromosome 18), trisomy 13 (caused by an extra chromosome 13), and extra or missing copies of the X chromosome and Y chromosome (the sex chromosomes). The only explanation was that the outside of my placenta had Trisomy 13 chromosomes but it didn’t effect the baby. This was so crazy to read. The results of an amniocentesis take two weeks to come back. Through giant tears, I began asking her questions. My husband kept emphasizing that there was a 75% chance he was perfectly healthy. She is now a perfect 8 month old. We held each other tight and cried tears of joy as we rejoiced over this news. Learn more. We just got our NIPT results today. If all women were tested using NIPT, 5540 would receive a positive test result for T13 (91.6% detection rate of 5000 T13 cases = 4578 true positives; 0.0967% FPR of 1 000 000 women = 962 false positives). But she’s pretty certain it isn’t a false positive, I’m trying to hold out some hope and optimism as I really want this baby - BabyCenter Australia My husband and I knew that if the diagnosis were in fact true, we would keep the baby and love him as long as we could. I can feel all my anxieties and stress kicking back in from my last pregnancy and am very much hoping I will get a clear result from my redraw. How accurate is this test? I called my husband at work and could barely muster out a complete sentence because I was so distraught. Analysis of the published literature on NIPT for T13 gives an overall detection rate of 91.6%, with a false‐positive rate of 0.097%. As I am writing this, my happy ending is sleeping soundly beside me. The original NIPT screening was indeed a false positive. Hi Makayla, For those unfamiliar with the amniocentesis, it’s a procedure performed by a doctor by sticking a needle into the amniotic sac and withdrawing some fluid, which is then tested further for any birth defects. My sweet, precious doctor, who I consider to be a friend – especially after this ordeal – gave me some poignant advice. As one of the very first few false negative NIPT cases in Australia, this case serves as a timely reminder that the NIPT is still a screening tool. You will be such a good role model to your three boys. If all women were tested using NIPT, 5540 would receive a positive test result for T13 (91.6% detection rate of 5000 T13 cases = 4578 true positives; 0.0967% FPR of 1 000 000 women = 962 false positives). My whole pregnancy I was a nervous wreck but with the care & love of our fertility doctor she did everything she could to keep my nervous & stress levels down. There is nothing you did or can do to change the outcome, and while worrying is a natural reaction, it won’t change the results. As an FYI yes it was likely CPM because CPM of 13 and 16 can be associated with IUGR. You always regret the babies you don’t have…not the ones you do!! I’m so glad you found the blog post about this issue. Soon we would know what our future would hold. I obviously changed obstetricians immediately after that as I couldn't trust his medical advice, but am hoping they've taken the information on board for any future patients. of samples). Babies are such a miracle…but man, can pregnancy be terrifying! In our view, a patient with a positive NIPT result for T13 and a completely normal detailed ultrasound examination should be reassured that invasive testing is unnecessary. Owing to the issue of confined placental mosaicism, chorionic villus sampling is not recommended. Cell free DNA testing–interpretation of results using an online calculator. And my boys – remember, they were in the car with me – were stunned with my sudden outburst. It returned a no result due to 'noise' in the sample and low fetal fraction so I had a redraw and waiting on that now. When we extrapolate the test characteristics to a general average‐risk pregnant population of 1 000 000 women (with an expected prevalence in the first trimester of one case of T13 per 1000 in women tested by NIPT), 1059 would receive a positive test result for T13 (92% detection rate of 100 T13 cases = 92 true positives; 0.0967% FPR of 1 000 000 women = 967 false positives). So horrific she gave you the option to terminate after nIPT. That’s exactly why I wrote it. The patient and her partner decided to have blood drawn in Leiden at 14 + 5 weeks' gestation. For trisomy 13, 18, and 21 screening, the test performs much better than the traditional first trimester screening (combined test) [1]. I would cry in the middle of playing with my two boys, because I was so thankful they were healthy. Based on this report and the perfect ultrasound, we are praying this is a false positive. It gives a much more accurate picture of what is going on with the baby. Damn OP. The quantitative fluorescence polymerase chain reaction (QF‐PCR) result was available 3 days later, and revealed no signs of trisomy. Fetuses with T13 (Patau syndrome) often die in utero, and affected neonates rarely survive beyond the first few months following birth1.

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