She kept saying that it was 99% accurate and really gave us little or no hope. Heidi—thank you for sharing your experience. Amnio confirmed Down syndrome, but was negative for Klinefelter. This is very much appreciated. So, if they receive a screen-negative, they are choosing to accept the slight risk of a false negative versus the higher risk of a miscarriage from an invasive test, like an amnio. In these cases the result can be delayed as further analysis is needed and in some cases another blood sample or redraw would be required.
While your encouragement is appreciated, studies show that prenatal testing increases anxiety and, interestingly, this increase happens no matter the result. I am interested in your amnio results and hope you will share those. I feel like a fool trusting these tests and results on gender. I do hope you will connect with us at the Trisomy 18 Foundation where you can share your loss with many other parents who have also lost their precious children to this devastating condition at Oh Brenda. I know that an amniocentesis also represents a risk, but if you start reading, also about Klineflelte, you get unsecure.
Lots of tears , lots of sleepless nights. Have you been able to find any links to abnormalities and low fetal fraction? They called the lab and the lab denied making a mistake. It is a much more informative article on this topic than others I have read. I have spoken to genetic counsellor but they keep reminding me that it's not a diagnostic test and although it's close to 100% it's not quite there. I would say that the harmony test would be more accurate.
I hope you enjoy your pregnancy. It has enriched our lives for the better. The reults came back positive for trisomy 21. My risk of developing pre-eclampsia was 1:4381 risk cut-off 1:200. We wanted to also be prepared if our baby faced any potential chromosomal conditions.
More needs to be done to help parents with the results they receive. See link Thank you for the link to the article. The doctor is of course checking for any markers, but the baby is developing on schedule and is showing no ultra sound signs of any problems so far. They took the placenta to biopsy it for potential placental mosaicsm when the placenta can take on extra chromosomes but the fetus is fine. Panorama asked us to resend the sample so we did that this is week 14 now. Hello Mark, Many thanks for your reply.
Truly, wishing you and your family the very best. I do think we would prefer an amnio to eliminate the possibility of the placental mosaicism. I had harmony test offered for raised background age-related risk. Good luck to all who are on their pregnancy journey, I hope it is stress free and not threatening to the health of your baby cos one test and morphology aren't congruent. Also- I was advised that the second harmony test they ran came in just below the high risk line the first was just below.
I do not know what the specificity and sensitivity percentages of the Harmony tests are now that it has gone into commercial usage—no one does about any of the labs as the stated rates for all tests are based on clinical studies that had abnormally high incidence pregnancies with aneuploidy not representative of the natural population incidence for aneuploidy. Could that dna also be in my plasma? With new advancements in screening testing for some micro-deletions abnormalities is possible. Doc recommends amnio to everyone, regardless of age or history, I have declined so far. I did manage to frantically squeeze in a few questions before she hung up. Nobody better than you can understand our feelings. I went back for my 12 week ultrasound and everything looked great, the living baby was moving and healthy with a great heartrate.
Hi Mark, I have read this article and the plethora of comments below with a lot of interest. Hi Mark, Your research is very insightful. I was surprised to learn that I was even screened for the micro-deletion portion of the Natera testing and certainly did not know that there was an opt out. Every diagnostic test, even amnio, has a slight chance for returning an incorrect result, but it is so slight that most rely on these results as diagnostic. Plus we would not terminate, just wanted to prepare. I am not going to give myself any false hope as I am mentally preparing myself for bad news, but I pray my cvs is normal and I can go on with my life.
Please feel free to reach out to me if you get confirmation!! I just wanted to share my results and experience. Put another way, Ariosa is saying you have 63% chance of not having a child with Down syndrome, meaning more likely than not you are not carrying a child with Down syndrome. So now we are waiting for the full karyotype to see what we are dealing with. We will learn so much, meet people we never would have met, have experiences we never would have had, etc. The advantage of the amnio is also that it can go beyond just Downs, T18 or T13 to more rare chromosomal disorders or deletions or partials. If you do read it, I hope you find it helpful. I am so grateful, and truly see her as my miracle.