Kristenhm147 member. Epigenetics. I have heard that a false positive isn't rare , I am glad your received good news after further testing ! Praying for you! The goal with a screening test is to estimate the risk of the baby having Down syndrome. Some would want to know or sure once the issue comes up.. Good luck . Learn more about, Your Guide to the First Trimester of Pregnancy, Your Guide to the Second Trimester of Pregnancy. The woman's age at the time of her previous pregnancy with Down's syndrome … This action cannot be undone. I was disheartened when the dr was showing us the graph and said “it’s not the best result we have BUT it’s still considered negative”. Down syndrome is associated with an increased risk of many chronic diseases that are typically associated with older age such as Alzheimer's disease. We respect everyone’s right to express their thoughts and opinions as long as they remain respectful of other community members, and meet What to Expect’s Terms of Use. Further testing for DS does have a high risk of causing miscarriage so you should think really carefully about if you feel as though it’s worth the risk or if you will be able to love your baby no matter what. This means... Find advice, support, and good company (and some stuff just for fun). I know what you mean. I'm going by what I was told by my "real doctors". Ultrasound Obstet Gynecol. reviewed by our medical review board and team of experts. Hope it goes well.? My blood work came back 1/190 which is classified as high risk for down syndrome as its under 250. I’m 13weeks and did blood tests for Down Syndrome at 12weeks, the results came back stating that I’m at an intermediate risk. Intermediate risk of down syndrome 1:436 Asked for Female, 26 Years I am 13 weeeks pregnant and had done NT scan yesterday and intimated my intermediate risk is 1:436 for down syndrome and my PAPP-A is low i,e 0.23 and advised to go for NIPT blood test.Is there any risk for baby please suggest? January 2015 in August 2015 Moms. Intermediate-low risk downs result.. : So I was told I had an intermediate risk for down and should get further testing at King Edward in Perth, I was referred to them but they came back to say I was low risk and they wouldn't do the test unless I went private. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. Anyone ever been in this situation only to find that the baby was fine? N Eng J Med. Is it something I should be concerned about? It's the most common genetic chromosomal disorder and cause of learning disa… hey has anyone gotten this result from their 12 week ultrasound and blood reading? How accurate are these blood tests for detecting DS? The result is screen positive if the risk of Down syndrome in the first trimester is one in 230 or greater. They wanted me to do the NIPT initially but then my doctor said we’ll do the Fetal Assessment Scan (anatomical scan) instead, which I’ll do at 16weeks. Mother's Age: 30 years 31 years 32 years 33 years 34 years 35 years 36 years 37 years 38 years 39 years 40 years 41 years 42 years 43 years 44 years 45 years The accelerated aging suggest that trisomy 21 increases the biological age of tissues, but … My genetic counselor told me the test is positive, but it does not mean that my baby positively has DS; it’s just a high risk that suggests diagnostic testing for accuracy and we hope to prove the NIPT wrong. I did the math and for my risk calculation, there's a 0.68% chance of my baby having DS. This is the same as a 1% chance that the baby has Down's syndrome and a … Intermediate risk for Down syndrome? If the screening test is positive and the risk for Down syndrome exists, further testing may be recommended. Even if she goes for amniocentesis, the risk is so low that it’s a toss up with the risk level of a spontaneous miscarriage. Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. The NIPT actually gives a percentage with 95-98% accuracy. If you are in this group, you will be offered a diagnostic test. I’ve heard of that (amniocentesis), not sure how true it is though. Plus there are millions of other genetic differences a child could have which aren't able to be tested for and you'll just never know until after birth or early childhood. They have other markers they can look for on the anatomy scan, and another blood test can be done. 2005;353:2001-2011. Intermediate-risk women were divided into two subgroups for further analysis: 1.8% (289/16001) were considered at high-intermediate risk (1/101–1/250) and 8.3% (1328/16001) at low-intermediate risk (1/251–1/1000). What does “increased risk” mean? For example, a risk of Down's syndrome of 1 in 100 means that if 100 women have this test result, we would expect that 1 of these women would have a baby with Down's syndrome and that 99 would not. This means I don't have the full mutation, and neither will my son. If they say you have a 1 in 250 chance of having a baby with Downs for example... And you don't. This educational content is not medical or diagnostic advice. It means they found soft markers for DS, but it’s absolutely not diagnostic. I know so many people this happened to and all was fine! Generally, risk is given in a range, like 1 in 250 chance that baby will have it, and if it’s any lower, then baby would be considered higher risk. If you are found to be in high risk group, chorionic sampling or amniocentesis will be necessary to confirm the suspicion. An abnormal test result does not mean that your baby has Down syndrome. Send thanks to the doctor. But I know how hard it is to wait and see. it doesn't mean the science was wrong. Age-adjusted risk assessment for fetal Down’s syndrome during the second trimester: Description of the method and analysis of 142 cases. Use of this site is subject to our terms of use and privacy policy. Dr. Jay Park answered. Praying all goes well. However, my children could possibly be in the premutation range. I get you. They wanted me to do the NIPT initially but then my doctor said we’ll do the Fetal Assessment Scan (anatomical scan) instead, which I’ll do at 16weeks. If you feel a message or content violates these standards and would like to request its removal please submit the following information and our moderating team will respond shortly. This calculator will let you know your own personalized risk. please let me know how it goes. Screening tests don't give false positives. It is very likely that you underwent screening test for Down syndrome (mostly blood test) and you were found in intermediate risk group. I have a high likelihood that it was detected, but it might not be correct or it might not be affecting the fetus. My doctor called this afternoon saying that I test in the intermediate range for Fragile X Syndrome. I felt like part of the results had something to do with my age (32). My OB was very happy with my NT scan however due to bloods being out she refered us to do an NIPT test, I'm currently awaiting feedback. Unless you are 35 and older, insurance will not cover it. This extra genetic material causes the developmental changes and physical features of Down syndrome.Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays. We strive to provide you with a high quality community experience.