This is actually a fairly common finding since a lot of chromosomes are not "imprinted" so people never know. The posts and comments here have truly given me encouragement during these (horrendous) last few days since receiving my abnormal NIPT result. It’s ridiculous they are getting away with making so much money from these at this time. Has anyone had a false positive for monosomy x on panorama specifically? Please read top 2 pinned posts & automod message for information about the screen and your result. Heading into the process following an abnormal NIPT result would be overwhelming at the best of times, but with the COVID-19 situation and caring for two small children 24/7 with no external support (other than my partner), it's become all-consuming for both of us in the worst way. I was already worried about false negatives. FISH would not be relevant test for you as it looks at 13, 18, 21 and XY. Press question mark to learn the rest of the keyboard shortcuts, high nt, +t12 CPM normal amnio false positive. Knowing you have seen 4 instances of this makes me really want to get the CVS no matter what. Your baby is 99% chance fine. Most likely everything will be ok and statistics are on your side. In fact, I joined reddit just so I could be a member of this community. It sounds like you have gotten very good counseling thus far. The fetal fraction was 10%, and there is no PPV for Chromosome 14 (that I could find). So, thank you in advance for being here. Noonan syndrome is another genetic condition associated with an increased nuchal translucency, and cardiac abnormalities are another cause. Hi- I was wondering if you have an update? I have a fetal echo scheduled for the end of the month. Press question mark to learn the rest of the keyboard shortcuts. I’m now 21 weeks and have had an early anatomy scan that looked great and NT completely normal. I’m 31 and this is my second pregnancy. This will bring up people in your situation, READ THE TWO PINNED POSTS / automod message and the 2 links about your particular condition, Press J to jump to the feed. Feedback appreciated, even if it's not specific to Chromosome 14. Thank you for weighing in! 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! 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! Now, what are implications of mitosis error and CPM? I actually have gotten abnormal NIPT results for chromosomes outside 21, 18, 13 and sex chromosomes. Commenting to say that I’ve updated my original post with some new test results. They personally had never been confronted with an abnormal NIPT for chromosome 14, nor knew of any cases within their larger department. You are so great! It’s such a mind game as we’re obviously holding out hope for negative results on all fronts, but even if the amnio results come back negative it doesn’t rule out the possibility that the UPD results could come back positive. Please flair your post with your NIPT result as well as make flair so users know your situation when you comment. So the most common probability is that your egg and sperm connected and had an error in mitosis. If either of those were to be the diagnostic result we would consider termination. 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. You could have some complications such as pre term birth or small for gestational age or nothing at all. Absolutely relieved and I want to … Often there are ultrasound anomalies, but not always. Because most of these will be attributable to CPMs, we conclude that this screening is of minimal benefit. The geneticist suggested the fish results are trustworthy for a positive but not that reliable for a negative. So I’m afraid my odds may be worse than 50/50. Whoa. We will also move forward with screening for uniparental disomy (UPD) as it's clinically recommended when abnormalities show up on certain chromosomes, especially 14 and 15, due to imprinting. It is an uncommon but recognised phenomenon and is known to result in false negative non‐invasive prenatal testing (NIPT). However, they kept repeating that hardly anyone (in their practice anyways) takes the expanded NIPT. She stated that the UPD test is especially important if the amnio is negative as UPD is rare but can occur even when amnio shows a negative result for fetal trisomy. Doctor who did my ultrasound told me since my NIPT was negative, I don’t need to worry about this and need to trust the NIPT result and carry on normally. Most physicians do not understand what the implications are for ordering an expanded NIPT for example and how common CPM is in mitosis errors. My fetal fraction was 3.1%. Placental mosaicism represents the discrepancy between the genotype of the placenta and the fetus. Essentially this will land people like you that would have NEVER had to do an amnio a lot of worry and an amnio. My partner (who is 39 by the way) and I are the kind of people who thrive on testing/data/facts/science and we opted for the expanded NIPT simply because it was available. Please flair your post with your NIPT result as well as make flair so users know your situation when you comment. TLTR: RATs (rare autosomal trisomy CPMs) most of the time it turns out ok. https://www.ncbi.nlm.nih.gov/pubmed/31391534/?utm_source=gquery&utm_medium=referral&utm_campaign=CitationSensor. She relayed her conversation with the genetic counselor at Sequenome/Integrated Genetics and stressed that they found this result to be highly unusual, definitely not considered a given, and would strongly suggest further diagnostic testing.