Came back for level II ultrasound and nuchal fold was measuring 7.5 mm (they like it under 6) and still no other markers. He has brought so much joy to our lives. 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. But was informed its not 100% we decided to wait until my 20 week scan everything was fine and I felt better for a while. Sending prayers and good vibes. Medical professionals agree that, when used correctly, it is pretty reliable as a test for these conditions. Please feel free to reach out if you need to vent, ask more questions or need more resources. 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 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. Lol. yes there are certain health problems that they are more susceptible to than "typical"people but thats not a guarantee or anything. Can NIPT tests be wrong? Read about our approach to external linking. Ive been told not to worry and that soft markers are common, but I cant help but still worry something is wrong. 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. And if so , did the nuchal give a positive for Down syndrome or any other need whilst the Nipts said it was negative ?If so which one did you go by ?This is my dilemma. HI! "It's just so important that women know that this test has too many false positives.". I am a bot, and this action was performed automatically. My own OB admitted the only reason she did the NT test still was to check for heart defects, but it was unreliable for indicating chromosomal problems. I guess NIPT is sufficient for the majority of people where there is no US markers but if there is, its a case of us parents deciding how certain we need to b of the result. What was your NT like? The #1 app for tracking pregnancy and baby growth. Healthy is the most importantnot chromsomally-typical. Reddit and its partners use cookies and similar technologies to provide you with a better experience. Trying to take each day as it comes and be positive. 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. How do I reset my brother hl 2130 drum unit? This occurs when there is a problem with the fertilized egg, most commonly a chromosomal disorder that makes the pregnancy non-viable. It has also caused me alot of anxiety. its an extra chromosome not a death sentence. 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 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. At this point we're just assuming it's correct since it's been confirmed by both tests now even though the ultrasound looked ok. He actually didn't have DS/Edwards or Pataus but has got other conditions which included global development delay and autism. Last week I had my NT screening (the ultrasound and bloodwork). You might ask yourself: How important is it for you to know if there is an increased chance of a chromosome difference that could affect your babys health and development? This post is meant as a welcome and quick information / resources to those who have just found this sub. 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. Wishing you good results. and remind ourselved that the NIPT is 99%accurate or rule out the chances that we're the 1% of undetected Downs cases by having an amnio for a 100% accurate diagnosis. We strive to provide you with a high quality community experience. This includes facilitating access to counselling and other relevant services as well as medical follow-up where this is needed. Claire will take Fintry for a blood test after her first birthday to find out if she does have the condition, but not before. Yes, I had a negative NIPT and a birth diagnosis of DS. These tests are noninvasive and analyze a sample of your blood for DNA from your fetus.. Group Leaders communicate with staff moderators and escalate potential violations for review, but they dont moderate discussions. It is so hard not to worry though I do have a 4D scan booked next week hoping this settles my nerves abit too. that was as of last Monday. Thank you so much for sharing your experience. I'm 27 FTM the nhs couldn't measure babies nt at 12 weeks due to babies position so I had the quad test around 15/16 weeks which came back super high 1 in 7 for down syndrome. 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. Although I agree that harmony/panorama are better screening tools. Met with a genetic counselor yesterday and she confirmed what you said. At my 20 week anatomy ultrasound I had 2 soft markers appear. The #1 app for tracking pregnancy and baby growth. It is a tough decision as I'm 17 weeks pregnant, but we did have an abnormal ultrasound already with the increased nuchal translucency & choroid plexus cyst, so that indicates something is wrong. That makes sense. I did the Panaroma NIPT test at 10 weeks. NIPT is a simple blood test that analyzes the babys DNA in the mothers blood, looking for chromosomal abnormalities. Can you share what your third trimester amniocentesis was like? 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. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. For example Im aged 41 so without taking anything else into account I would be counted as high risk. Wow! "They said to me, 'Well if you don't tick it then we can't tell you the gender of the child.' 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. The GC said that we should not have even seen the quad screen results. It's a very slim chance. If we there are any markers during the ultrasound, we'll opt for the amnio (gulp). My husband is also familiar with the other duplicated genes, and their roles, and it's just too scary to move forward with the pregnancy knowing everything that could go wrong. But in many cases, it is still most likely that your child is perfectly fine. I would try not to worry about it (I know thats easier said than done). VideoChess gets a risqu makeover, The Nigerian influencers paid to manipulate your vote, How a baffling census delay is hurting Indians, How Mafia boss was caught at a clinic after 30 years. Any advice would help or if someone has had similar experiences. Please select a reason for escalating this post to the WTE moderators: Connect with our community members by starting a discussion. Discussion. I have subsequently learned that if one is overweight the tests might be less accurate, but my weight is normal. "Ninety-five per cent accurate" means something to regulators and statisticians, but doesn't tell you the chance that your positive result will lead to a diagnosis. Hope that helps a little?? Get lots of rest as the NICU experience is quite exhausting x, @shhh2014 yes I think I am, my little boy will b delivered next week by section and has had AVSD and Duodenal atresia found on US so we already have enuf to deal with after birth without adding in the DS diagnosis being news to us. Then, at my 19 week scan, there was a thickened nuchal fold. No other markers. The needle was withdrawn and there was still a strange feeling on the bump which faded gradually over the next 12 or 24 hours. soft matkers are common. I did the Panaroma NIPT test at 10 weeks. Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21. The quad test isn't as accurate as the combined test you have at 12 weeks that takes into account the babies NT measurement, I couldn't have the combined test as baby wasn't in the right position. If you have been incorrectly told that the accuracy of your result is 99% without a proper Predictive Value calculation please report this somewhere as this actually leads to wrongful terminations of pregnancies in that office. It adds that it "informs patients of all test results in a secure, sensitive and supportive manner" and that while it does not provide specific genetic counselling, it supports patients in collaboration with a consultant obstetrician on aftercare and referral pathways.). A negative NIPT equates to roughly a 1 in 70,000 chance. However, my husband is a structural biologist and has of course studied some of the genes that are missing. What is the lowest chance of Down syndrome? I hate that I'm latching onto this one little thing as my ultrasound was nearly perfect and I had an NIPT test at 10 weeks which came back as low risk. I'm waiting for the results, but so confused. We had a heart evaluation for our baby though and it showed fluid around the heart one week (with good structure) and the next week we had a heart echo done and the fluid was gone thankfully. Group Leaders arent expected to spend any additional time in the community, and are not held to a set schedule. False positives are more common than false negatives. my second baby had 2 soft markers at 13 weeks that disappeared by 17 week scan. And the only way to check for that is an amnio. (The clinic Claire attended says patients are given advice and counselling on the false positive statistics for the test. Im 20 years old Microarray (rare duplication? 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. "We just felt we didn't have the emotional reserves, after dealing with five years of cancer treatment.". Her doctor replied that in the US she would have been given four hours of counselling before the test but that in the UK there weren't enough genetic counsellors. Group Owners uphold the core values of the brand by reporting content that violates the community guidelines. 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