So there could have been 2 issues how this comes about. My initial questions for the group are: (1) have others in this group experienced NIPT results related to chromosome 14 (or even for other very rare chromosomes like 7, 11, 15, 16); (2) has anyone received further diagnostic results that confirmed confined placental mosaicism (CPM Type I, II or III) and what did that mean for their pregnancy and baby; and (3) has anyone has undergone testing for uniparental disomy (UPD) as a result of an abnormal NIPT result? I am glad you found my sub! Despite the low risk NIPT & good level 2, I feel worried. I hear and read that we have very likely odds of this being a false positive, but I can’t reconcile that with the possible consequences if it’s a true positive. Press question mark to learn the rest of the keyboard shortcuts, high nt, +t12 CPM normal amnio false positive. 23ME has actually started to notice that a lot of people had this as well meaning that the embryo went through correction. Thanks for clarifying FISH, I had somehow missed that it was only for 13, 18, 21 and sex chromosomes. They will order karyotyping plus microarray given the rarity of an abnormality for chromosome 14. The two time periods are complimentary (not adjacent) so it seems we should have both results within 14 calendar days at the latest. This result stole all of my joy. I was already worried about false negatives. There were no issues large nor small observed. (Not sure if the brand for NIPT but instead of numbers it just reads as positive or negative). Here's my story: I received the results of my MaterniT21 Genome test by phone call with my midwife last Thursday where she explained there was an abnormal result on chromosome 14. It’s a nerve wrecking time for sure! What are the chances that my NIPT is a false negative? My husband and I worked for two years with a fertility doctor to get pregnant with this baby and with me being 38 I felt this is my last chance at having another baby. There is no way to know this until you biopsy placentas in delivery. HEY! We thought “well, we are getting older and it can’t hurt.” My midwife simply went along with it but didn’t suggest it nor counsel us against it. Knowing you have seen 4 instances of this makes me really want to get the CVS no matter what. Does an NIPT pick up mosaic T21? Your baby is 99% chance fine. Please flair your post with your NIPT result as well as make flair so users know your situation when you comment. I immediately had blood drawn for the MaterniT Genome. Essentially this will land people like you that would have NEVER had to do an amnio a lot of worry and an amnio. I actually have gotten abnormal NIPT results for chromosomes outside 21, 18, 13 and sex chromosomes. Overall 181 pregnancies with CPM and 757 controls were recruited. Meaning most of the time they even die off or remain. We do have 2 members who have had trisomy 7 in NIPT - false positive, of course, here. I know this community and reading everyone's stories really helped me get through this wait. While a lot of them end up being false positives, I have had a few be positive. This would be an extremely rare event because most errors are actually mitosis prone not meiosis. This is an issue of companies making money with false advertising of things that seem nice in theory but have 0 clinical benefit. And it should not have been ordered. Often there are ultrasound anomalies, but not always. Please add flair of your results of the NIPT. Please flair your post with your NIPT result as well as make flair so users know your situation when you comment. We see this happen during IVF and when we do PGS testing embryo biopsies can come back as "mosaic". I had an appointment today at 15+2 weeks with a maternal fetal medicine specialist for a thorough ultrasound (the first of this pregnancy), consult, and then discussion with a genetic counselor. Please read top 2 pinned posts & automod message for information about the screen and your result. You are so great! I actually have gotten abnormal NIPT results for chromosomes outside 21, 18, 13 and sex chromosomes. Based on discussions with my midwife and my partner, via my own research, and now confirmed with the MFM specialist and the genetic counselor, we will move forward with an amniocentesis next week when I am 16 weeks. This depends how many cells are affected and their function in placenta. Commenting to say that I’ve updated my original post with some new test results. My midwife mentioned that there could be a number of reasons for the abnormal result including placental tissue and vanished twin. Maternal UPD 14 appears to have less serious consequences but the phenotypic effects vary widely (among the few living cases) so it’s a dice roll on life compatibility if that turns out to be a true positive. T14 CPM is one of the "lesser" common ones but they do exist and have been found on these types of screens if completed. Thanks!! My NIPT test was done a month or two ago, and everything came back negative for abnormalities. About 4 weeks ago I took the Natera Panorama NIPT at around 12 weeks. They are making millions here with no benefit to the patient. And hopefully you are not dealing with the very rare UPD situation, although in theory it is possible. Also she said the PPV for panorama is different because it uses different technology. She said that they typically can only run the UPD test following the amnio results, since it apparently depends on cultured amniocytes and not just direct amnio fluid, but that she would double check to ensure they can't be done in parallel (to save time). Is there a genetic counselor that you can speak with in your area to talk through things and make a plan moving forward? Filter by flair can be useful to find similar questions. By using our Services or clicking I agree, you agree to our use of cookies. I have been waiting for someone like you since the horrendeous introduction by these NIPT companies of expanded NIPT disaster such as this - so welcome & sorry you are here! But here is something useful for you to look at as well. Often there are ultrasound anomalies, but not always. Please add flair of your results of the NIPT. Press question mark to learn the rest of the keyboard shortcuts. I personally have counseled 3 false negatives for Down syndrome, and 1 for trisomy 13. Now, what are implications of mitosis error and CPM? Cookies help us deliver our Services. It’s ridiculous they are getting away with making so much money from these at this time. I’ve been seeing a MFM specialist from the get go because I’m high risk due to chronic hypertension. However, I know that it's still early at 15+2 weeks to be able to see everything that they can see at the 20-wk anatomy scan, but it gave my partner and I some much-needed encouragement. You could have some complications such as pre term birth or small for gestational age or nothing at all. Cookies help us deliver our Services. And that UPD is extremely rare because most errors are mitosis errors and not meiosis unless the couple is older, then they are prone to meiosis errors. My baby did have the nasal bone present. Community for those with abnormal or discordant Noninvasive Prenatal Testing (NIPT/NIPS) screening results: FALSE POSITIVE, FALSE NEGATIVE, TRUE POSITIVE & those stuck in limbo. Hi all, LO was born on 9/13 and we had her officially tested for 22q.11 and found out for certain that the NIPT was a false positive! Outcome information was available for 69% of cases (n = 124) and 62% of controls (n = 468). The PPV for rare trisomies runs at about 1% and that's usually case of fetal mosaicism and UPD as you said. I’m not sure if an update or a new comment triggers my post to be re-read. I expect they WILL have to culture as there is likely not enough DNA to run all tests concurrently. I would advise again that since that does not change the plan and the baby is most likely fine. Two weeks later my doctor called me and told me that it came back inconclusive and with an increased risk for Trisomy 13, Trisomy 18 and Triploidy of 1/17. << what happens in 2/3 normal correction vs 1/3 UPD https://ars.els-cdn.com/content/image/1-s2.0-S1043276000002770-gr1.jpg).