It was Harmony, no issue with fetal fraction/BMI etc. However, I read a medical journal article before the test results came back that explained why there were soft/hard markers and what they mean. I agree with you that in a way I think I would be more confident with an amino but it does carry more risk especially if our babies are healthy and our screening tools just aren't that great. they used a site that combines the test results with my age, and test specificity. Ultrasound for pregnancy is covered in two ways: a complete prenatal ultrasound and a limited prenatal ultrasound. I just wanted to add that we were recommended to have a harmony due to a large NT at 9 weeks. I had my AFP blood test done last week and I am worried that the results may come back with positive results but I am going to choose to focus on the Panorama. She signed up for the test at a private IVF clinic. Can I be 2 months pregnant and have a negative test? Trying to take each day as it comes and be positive. There are 2 main sticky posts about what NIPT is, how it works, what it can miss and how false positives happen, sono findings, and your chances of a true positive after NIPT. But I was a pregnant mum in a vulnerable state - I wasn't acting like I normally would. Generally quoted at a 1% risk, but she performed it herself and given her experience was confident enough to say she thought the risk was lower than that. An article in the medical journal Ultrasound in Obstetrics and Gynaecology argues that when NIPT is used to screen for these conditions, including Turner syndrome (when a girl has only one copy of the X chromosome) or Klinefelter syndrome (when a boy has two copies of the X chromosome and one Y chromosome) it has "a high failure rate" - a low detection rate and a high false positive rate. I've looked so much into it and it does say there is a high false positive rate but just can't shake the anxiety. Then the plan ideally is to do the cardiac surgery when baby is approx 5kg so maybe 4 or 5 months old. The invasive test Kypros Nicolaides is referring to either involves a placenta biopsy, or amniocentesis - sampling of the fluid in the amniotic sac - both of which carry a small risk of miscarriage. Also, my MFM told me only a quarter of babies with chromosomal defect have any forewarning via soft/hard markers. Okay. I had never even heard of mosaicism until I started researching/questioning my NIPT results (which are negative and most likely correct). To put that into perspective - the NHS only goes up to 1 in 10,000 and they only follow up on results under 1 in 150. I got the FISH results from my CVS back already, and it is also negative. The couple decided that they wanted to know if there was a chance that the baby had Down's Syndrome and privately paid for a blood test known as NIPT - a non-invasive prenatal test - which examines the DNA of tiny particles of the placenta circulating in the mother's blood. My doctor cud tell from US that my uterus had not contracted during the procedure, so I was allowed leave quite quickly-- I think if there was contraction they wud have kept me a whole to make sure it settled down. Getting a negative result doesnt mean youre not pregnant, it may just mean your hCG levels are not high enough for the test to detect the hormone in your urine. I am 22 and currently 13w, this is our first pregnancy. Claire Bell did not have an invasive test, because the more she read about the NIPT test as a method of screening for Turner Syndrome the more sceptical she became. The clinic told Claire that she'd get an email if everything was OK, but they'd ring if there was something to discuss. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. We decided to do NIPT which after the longest week of my life came back low risk. BabyCenter may earn a commission from shopping links. I have seen so many false positives. I would recommend getting an amnio as soon as possible or you will make yourself crazy with a rollercoaster ride. Just waiting for results. Prenatal diagnostic tests such as amniocentesis and CVS diagnose the. We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed di I was told the accuracy of the test is 99.9% or something like that. NIPT is a prenatal screening test that can be performed as early as 10 weeks of pregnancy using a single blood draw. I could c the needle come in, while baby happily kicked about as usual. I'm unclear. If we there are any markers during the ultrasound, we'll opt for the amnio (gulp). I appreciate those who chime in as we all remember how difficult to be in this situation. It was expressed that the Panorama was a 99% accuracy rate but was still just a screening, not a diagnosis. Did any take both tests? A Group Owner is a member that has initiated the creation of a group to connect with other members to share their journey through the same pregnancy & baby stages. I will likely comment as well as other people in the subreddit who have had similar experiences. Right, like the first trimester combined screen or the quad screen. If the sonos are normal I always ask people wait for an amnio. Can I ask why you were doing Harmony test, was their indicators for DS on US or did you just opt for screening? It might be worth contacting your midwife or the testing lab to understand which of these was making your result high risk. We respect everyones right to express their thoughts and opinions as long as they remain respectful of other community members, and meet What to Expects Terms of Use. Was called into my OB last Friday and informed me that I'm at a 95% high risk for Trisomy 21. Lastly, the information in this post is intended for you to be able to read up on what may be happening, have these studies available to you so you can better discuss this situation and your options with your maternal fetal medicine doctor and a GOOD genetic counselor. do some research, you will see. We are very similar. I had a NIPT after a high risk screening result at 12 weeks. If it was me I wouldnt chose to have amino or cvs once nipt is negative due to the miscarriage risk and the high accuracy of nipt xx, Hey lovely, it's really tough and it sounds like you've had abad time . Can you share what your third trimester amniocentesis was like? fetal fraction was ok (amount within the normal range, no mosaicism and by bmi is normal). My midwife really doesn't seem to think an amnio is warranted in my case with a soft marker (thick nuchal fold), because I had a negative Harmony. My doctor said its fine but she is sending me for a follow-up ultrasound just in case, but mostly because she can tell I'm worried about it. There are many women that are having expanded tests, they come, they are extremely worried, they have an the invasive test which is what they wanted to avoid, and it shows that the result of the NIPT test is wrong. Thank you so much x, For my friends little one he came back high risk at 12 week, so they h, Aww thank you so much for sharing this! I didnt know to ask about that and figured I would be retested if it was low. Symptmes de grossesse ne jamais ignorer, Moyens naturels pour dclencher l'accouchement. False negatives are a lot rarer. The micro-array test will take 10-14 days and I assume it tests for everything, including mosaic disorders, but I will be sure to ask the genetic counselor about this to make sure! Check it out. Don't let them stick a needle into you.". They are testing my husband now. used hydraulic press brakes for sale. The educational health content on What To Expect is reviewed by our medical review board and team of experts to be up-to-date and in line with the latest evidence-based medical information and accepted health guidelines, including the medically reviewed What to Expect books by Heidi Murkoff. I had a negative NIPT at 14 weeks but at the 20 week ultrasound they found an AVSD so I had an amnio and that is when they diagnosed my son with mosaic Down syndrome- pretty rare as it only accounts for 1-2% of all Down syndrome cases. Statistics are misrepresented every step of the way with NIPT and this is normalised. In this retrospective study, a total of 81,601 pregnancies were analyzed using next-generation sequencing-based NIPT, and only 0.01% had false negative results, which is in accordance with a previous study (Suzumori et al., 2019). I hope you are doing okay! Im sure your little girl will be delighted to be a big sister! Im sorry youre dealing with this! You always have a right to speak to a genetic counselor after an abnormal NIPT result and this should be provided for you by your OB. Im 13w and 3 days. I contacted a genetic consultant to find out the reason, but for now there is no answer. These stories make me wonder. But with an abnormal sono and increased NT this time is very likely that this is true positive unfortunately. I only plan to do an amnio if something life threatening shows up. Like I said, this is our first pregnancy and we are so scared. That makes sense. She also read about one woman whose doctor had told her the test was so unreliable you might as well flip a coin. i hope you have a healthy rest of your pregnancy! I need to take control and stay positive! and our You will see this come up in posts across this sub. A Group Leader is a What to Expect community member who has been selected by our staff to help maintain a positive, supportive tone within a group. Instead, it said, it "may be best utilised" in cases where there was a family history of a similar chromosomal anomaly, or where an ultrasound scan had given reason to suppose that such an anomaly could be present. i hate the way society views ds. It is a very accurate test from what I know. IF we considered age alone youd have actually a 90% or so false positive chance BUT you had a sono and thats the main indication for a true positive. Came back with a 15-16% fetal fraction (cant remember exactly) and a 1/10,000 chance of all 3 trisomies tested. Group Black's collective includes Essence, The Shade Room and Naturally Curly. But the ultrasound that was done at 10 weeks is technically too early to check fluid behind the babies neck so theres a chance things look better on Monday. "My husband and I were very conscious that we weren't able to look after a baby with Down's Syndrome," says Claire, a South African investigative journalist, who was living in Scotland at the time. False-positive results can occur in the presence of placental mosaicism, vanishing twin syndrome, or an unidentified maternal condition, such as mosaicism or cancer. Last year we began our planned programme of diagnostic and imaging service inspections and services, which includes those independent providers offering NIPTs". At 11 weeks we had a great NT +1st trimester screen, but additionally did Harmony (NIPT) and were told we had a 1:10,000 risk for the test trisomies. not sure which ones you have. The state of CA says that if someone has a negative NIPT result, they do a blood draw for AFP only, as a marker for possible neural tube defects but that that DS score should not have been reported. FYI, I'm also a 40 year old mom and OB still thought the invasive tests were unnecessary. HI! www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html. As always, take any information given here and online for what it is - information - and always discuss further treatment plans with your physicians, however with caution. Consultant had not seem this b4 so presumably rare, referral centre for cardiac care had seen it but only where NIPT done at its earlier limit eg 10wks. think twice before sharing personal details, foster a friendly and supportive environment, remove fake accounts, spam and misinformation, delete posts that violate our community guidelines, reviewed by our medical review board and team of experts. 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