HIGH RISK NIPT / AMNIOCENTESIS / FALSE POSITIVE

Hey guys, this is my story about receiving a high risk NIPT, having an amniocentesis and finally getting the news that the NIPT was a false positive. My doctor recommended the Generation suite of tests and I chose the Generation46. I had a detection of 4q duplication (partial trisomy 4q). Generation claims the false positive rate for subchromosomal detections like mine is 0.2%. I would never do an expanded NIPT test again in any pregnancy, as studies show the accuracy is low and my specialist said he sees many false positives on these newer whole genome sequencing tests and microdeletion panels that are on offer. I want GPs and OBs to educate themselves about NIPT beyond what the marketing material states, before recommending expanded panels to people. I was only 33 when this was recommended to me and the consequences of having a positive detection weren't discussed with me. I was also told it was 99% accurate all around. Please see a genetic counselor if you have any abnormal or inconclusive results. Please understand that fetal abnormalities are NOT the most common cause for low fetal fraction. Please educate yourself about the difference between CVS and amniocentesis. I uploaded this video in hopes that it could help someone else who's going through it. I found it very helpful to watch other people's stories on youtube when it happened to me, and I found the NIPT subreddit very helpful. Also, in the unfortunate event that you have a confirmed diagnosis, there are support groups on reddit for those wanting to continue with their pregnancies and those who cannot. TFMR_support is a helpful subreddit for those who are not wanting to continue with a pregnancy, or who cannot due to medical reasons. Some fetal abnormalities are actually very dangerous for the pregnant person's health, such as triploidy causing eclampsia, so we should never judge people when they are in these situations.