❤️❤️. GIRL but also positive for Trisomy 21 which is Down Syndrome. It's sad to me that some people don't understand that. Or did you have the results be wrong with a previous pregnancy? I think it was 1:100. "And besides, we are from strong Yorkshire stock. It adds: "We will continue to work to professional standards while enabling men and women the right to choose. When a woman asks, “How accurate is the test”? I have a NIPT blood test tomorrow. False positive results can occur from placental chromosome abnormalities, cancer cells, chromosome abnormalities of the mother, twins or triplets, use of donor egg, and miscarriage of one twin. Really, they should have told me what that box was about." I didn't want to know the gender but my husband did, so I thought, 'All right then. I don't have any experience but didn't want to read and run. It's mainly used to screen for Down's Syndrome and two other chromosomal anomalies, Edwards Syndrome and Patau Syndrome. Things are very different today thanks to ever changing health care and education. A negative or normal NIPT test result means that it is very unlikely that the baby has trisomy 21, 18 or 13. And if you are in your 20s, the positive predictive value is as low as 46%. Sending lots of good vibes for you. https://www.asa.org.uk/resource/enforcement-notice-nipt.html. It's mainly used to screen for Down's Syndrome and two other chromosomal anomalies, Edwards Syndrome and Patau Syndrome. "It's just so important that women know that this test has too many false positives.". God is good all the time! Thank you for sharing and for encouraging me! So ask your doctor before making any big decisions and, if you are tempted to ask Dr Google, look for how common the condition is before jumping to any conclusions. "You can't terminate a baby because she might be short, flat-chested and can't do maths," her aunt said. You just really never know until they’re here. If public spending was £100, how would it be split? I would never have an abortion due to Down Syndrome as I know many children and adults who have DS who are happy and healthy. I also got a phone call today with the chances being 1:39. She called back the doctor who had told her about her result on the phone and asked if this could be correct. All of the fetal chromosomes, including chromosomes 21, 18 and 13 will be analyzed with these tests. Picture of little Quincy June on her first birthday attached. I’ll be thinking about you. NIPT can detect over 99% of fetuses with Down’s Syndrome, But a positive result on an NIPT does NOT mean that you have a 99% chance of having a baby with Down’s Syndrome. The results should be back in 2 weeks. taken. He is BEAUTIFUL! But I was a pregnant mum in a vulnerable state - I wasn't acting like I normally would. © 2020 BBC. I know it's hard but try not to worry, the chances of everything being fine is really in your favour. I think most people would assume that this means their result will tell them pretty much for sure whether their fetus has one of the conditions or not. .css-8h1dth-Link{font-family:ReithSans,Helvetica,Arial,freesans,sans-serif;font-weight:700;-webkit-text-decoration:none;text-decoration:none;color:#FFFFFF;}.css-8h1dth-Link:hover,.css-8h1dth-Link:focus{-webkit-text-decoration:underline;text-decoration:underline;}Read about our approach to external linking. The answer was, they didn't do this. He was a sweetheart. I’m just wondering if anyone else is also facing NIPT results you did not expect? A test result can sound like a near certain diagnosis when the test says it's 95% accurate. True! The NIPT test is a first trimester screening test that can look for increased risk of Down syndrome and other chromosomal abnormalities. Of the prenatal testing options, only amniocentesis and chorionic villus sampling (CVS) are considered diagnostic. (The clinic Claire attended says patients are given advice and counselling on the false positive statistics for the test. I know it's unlikely to be wrong . 'A genius': Huge crowds bid farewell to Maradona, What my ME could teach long Covid sufferers. %PDF-1.6 %���� All testing is low risk this time. Her little girl has downs, but she is high functioning with no health issues. For the fastest help on, More posts in "November 2020 Birth Club" group, Create a post in "November 2020 Birth Club" group, Breastfeeding: the trick to a comfy latch. Unfortunately, marketing by the companies offering this test has sometimes been misleading in claiming that the test has greater than 99 percent accuracy, the same accuracy that is known with amniocentesis and chorionic villus sampling (CVS). Has anyone else been through this? We'll tell you how it works and what results really mean. It doesn't help that my husband has quite aggressively told me that if the NIPT comes back high risk he wants me to have the invasive tests to know for sure because in his words he 'doesn't want a down's syndrome baby'. NIPT is done to screen for fetal aneuploidies (extra copies of specific chromosomes) such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). Prenatal diagnostic tests such as … Contact the Turner Syndrome Support Society, See also: NHS information on Turner Syndrome. Results are usually available in a week or two, sometimes a little sooner. Is there a gap between public and private sector pay? But the information Claire was sent by the clinic painted a very grim picture of life for people with Turner Syndrome. This returned as 0.01% for all 3 chromosome test. Research is still being done to determine if NIPT should be offered to all pregnant women and if the results can be made more accurate. my husband an I … 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. Any words of encouragement or advice from mamas who have a child who has Ds? BUT, she has been the BIGGEST blessing to our family. "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. Therefore, first trimester screen and quad screen offer better detection rates of other genetic abnormalities and provide additional information about pregnancy risks involving high blood pressure and abnormal fetal growth. Please whitelist our site to get all the best deals and offers from our partners. It can be used to inform people but also to mislead. Medical professionals agree that for Down's Syndrome and some other conditions, the technical accuracy of the test is the right level to give helpful guidance. %%EOF Learn more about, Your Guide to the First Trimester of Pregnancy, Your Guide to the Second Trimester of Pregnancy, Positive screening, tri 21 nipt to follow. I haven't stopped crying since because I can't help but think that it is going to be bad news The nurse said that there was nothing "extremely unusual" about my bloods or the NT measurements so I'm really worried at why it is 1:39. This is one of the reasons that NIPT is unlikely to ever be 100% accurate. All of them ended up with healthy baby's. Prayers! He is our everything and I wouldn't change a thing about him. The safety statement is a red herring. NIPT screens only for trisomy 21, 18 and 13 and not for other genetic conditions, birth defects or pregnancy complications.

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