Their inability to answer that basic question, whether because they didnt know the answer or because they felt for some reason that providing that information might dissuade me from choosing the testing, was disconcerting. Has anyone had a decent nuchal result but then ended up having a baby with Down Syndrome anyhow? I hate HMOs.) False-positive results can occur in the presence of placental mosaicism, vanishing twin syndrome, or an unidentified maternal condition, such as mosaicism or cancer. Please share. The test, callednon-invasive prenatal testing(NIPT),analyzes pieces of DNA from the pregnant mothers bloodstream during the first trimester to determine the likelihood of her baby having certain genetic disorders. I think it's also worth noting that statistics can be very misleading. Anonymous. Because they are ways to find people who are at risk for X,Y, or Z that are low risk and inexpensive because we are offering them to populations. False-positives are more likely to happen when the disorders being tested for are rare, when several are tested for at the same time, and when women who are not at risk for having a baby with a chromosomal disorder (like I was) are tested. They just weren't warm and fuzzy at all. Hello! hoping against hope. We used the same physician. Among the 85 patients with false-positive results, 67 were . Worrying like crazy, Call SF Perinatal Associates. I just had a nuchal translucency test that showed a 1:900 risk for Down Syndrome. If you are the type of person that will frett over this throughout the remainder of your pregnancy, do yourself a favor and ease your worried mind-- find a good doctor and do the amnio and get the results and go from there. When almost two weeks passed and I did not have a result, I started imagining the worst and thinking it must be a bad result and they are rerunning it to confirm it and all other kinds of negative thoughts. I find for me it's a bit of both. Chorionic villi are microscopic, finger-like wisps of placental tissue formed from your fertilized egg. My husband and I opted not to get amnio at that time because we were very comfortable with the results. Is there anyone who has had a similar experience with this decision making process who can offer advice? Myriam. I think they are covered by the California Department of Public Health's Expanded AFP program. My husband is 44. Hi, I am 29 years old and currently 19 weeks and 4 days pregnant.My AFP showed probability of 1/160 which puts me at higher risk for Downsyndrome then other women of my age (ratio for my age is 1/800).I got level 2 ultrasound done and everything looks normal in that.I now have to decide whether to go for Amniocentesis or not.Please advice based on your experience.Also if anybody know how is Obstetrix,Sanjose to get the test done. It would be ideal to have someone stay with you too. Most often, the disorders tested are Down syndrome, Edward syndrome, Patau syndrome, Turner syndrome, Klinefelter syndrome, Triple X syndrome, and Jacob syndrome [2]. In addition to technical issues, multiple biological factors can influence NIPS results. If you have questions, email the Division of Industry and Consumer Education (DICE) at DICE@FDA.HHS.GOV or call 800-638-2041 or 301-796-7100. My OB called and said that my result was in the range that ruled out neural tube defects but could indicate Down's Syndrome. Oftentimes, testing is described as99% accuratewhich sounds incredibly impressivebut this is misleading and doesnt tell you the odds that your positive result is actually right [4]. The thought of having a child with Down's fills me with fear, despair, sorrow. Amniocentesis is usually done in an outpatient obstetric center or a health care provider's office. A numeric risk assessment allows the patient to determine the risk and consequences of giving birth versus proceeding with diagnostic testing. The patient also loses the ability to consider CVS if the first-trimester screening detects a high risk of fetal aneuploidy. Berkeley Parents Network, founded in 1993,isbased in Berkeley, California andis a 501(c)(3) nonprofit online network for parents in the San Francisco Bay Area. The scientific literature related to the use of NIPS tests from laboratories, including 25 peer-reviewed publications covering 13 studies evaluating more than 10,000 individuals undergoing NIPS, indicates that the NIPS tests evaluated generally perform well for ruling out disorders caused by chromosomal abnormalities. I burst into tears, thinking something was wrong with my baby. The researchers from the United Kingdom also found that the proportion of false-positives is particularly high for women who arenothigh risk(more on who is considered high-risk here), which is most women. On a bureacratic note, before you go in for the amnio, make sure you have the authorization number for the procedure from your OB's office. Even if you go with the low-end to the 99.4% accuracy rate, most people will still get secondary confirmation of fetal defects from one or more a high-level ultrasounds. Do not use the results of screening tests such as NIPS tests alone to diagnose chromosomal abnormalities or disorders. Why? d in association with open neural tube defects in later gestation. Preeclampsia: what causes it, who develops it, and how do you prevent it? BUT, I have had so many bad hospital experiences I am finding myself very untrusting of their numbers and data. This study evaluates 17,428 singleton pregnancies had undergone NIPT detection. Christina does a better job explaining this than the NYT article did, however, I would not call the NYT article a bombshell. So many questions has anyone had an amnio after a c-section surgery? In the end, I declined NIPT during my pregnancy. That doesn't mean you should ultimately do an amnio. Although we were told it was likely that none of these were wrong, it was very late on a Friday afternoon, everyone was in a hurry, and my husband and I were rather dumbstruck and frightened. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. Bleeding or loss of amniotic fluid through the vagina, Severe uterine cramping that lasts more than a few hours, Fetal activity that is different than usual or no fetal movement. Our PPV was 33%. If a persons screening test increases their risk then of course anxiety is increased just like it is if we have positive Pap smears or mammograms but its important to understand that it is a screening test. I know that the amnio is the only thing that is 100% accurate and diagnostic . The false positive rate is placed on the X axis; the true positive rate is placed on the Y axis. http://boards2.parentsplace.com/messages/get/ppdecisions14.html Heather, CARE (Contra Costa)925-313-0999 - Ask for Betsy Katz, FRN/Oakland - 510-547-7322 (they are in the same space as Bananas). If the result is positive, abnormal or high risk, this means your baby is likely to be affected. Potential markers for Down syndrome include nonvisualized nasal bone, tricuspid regurgitation, crown-rump length, femur and humeral length, head and trunk volume, and umbilical cord diameter. Screening tests are usually done during the first and second trimesters to determine if there are any health risks to your baby. 456-462.doi:10.1002/pd.4805. I'm really curious to know what helps others. Most of the time when they return screen positive further testing is done (colposcopy) and those results show that everything is fine. Chorionic villus sampling, more commonly called CVS, is a prenatal test used to identify birth defects and disorders. Trisomy 13 the rarest of the major trisomies, so it will also have the highest false positives. The decision to offer screening or invasive testing should not be based on age alone but should take into account patient preferences. Ensure your patients receive the appropriate follow-up testing and care, including genetic counseling, as needed. "Mayo," "Mayo Clinic," "MayoClinic.org," "Mayo Clinic Healthy Living," and the triple-shield Mayo Clinic logo are trademarks of Mayo Foundation for Medical Education and Research. The accuracy and performance of NIPS tests have not been evaluated by the FDA and these tests can give false results, such as reporting a genetic abnormality when the fetus does not actually have one. The test itself poses no risk to the mother or her baby and is a welcome alternative toinvasive prenatal genetic testslike chorionic villus sampling and amniocentesis, because both have a risk of miscarriage. Results from NIPS tests can provide information about the possibility of a fetus having certain genetic abnormalities that could result in a child being born with a serious health condition. In any case, the AFP is a screen test, resulting in a huge number of false positives. If you can take classes on breathing and relaxation techniques, this will probably be really helpful. Some potential problems will be apparent with the mid-pregnancy ultrasound and may inform whether an amnio is needed. A false negative result could make you decide to avoid further tests that would have revealed a birth defect. Much ado about a procedure. a preschool class set up to deal with kids with disabilities, early speech therapy). The short answer to your question is yes, there is a very very slight possibility for a false positive amnio result, especially if the diagnosis is mosaicism. It sounds like your pregnancy is a miracle and I think you should be as cautious as possible when it comes to taking any risks (including those associated with amnio. All the above NIPT-positive cases underwent amniocentesis, and 20 cases were eventually diagnosed. Reality is simply that more education is needed for the people (doctors, nurses) that give the option of these screening tests and give the results of these screening tests. 127, no. Although nuchal translucency measurement alone is a good detector of Down syndrome, trials have shown even higher detection rates and lower false-positive rates when it is combined with biochemical markers. But when I inquired, neither the obstetrician nor her nurse practitioner offered a response, instead deflecting and pressuring me to the point where I felt I had no choice. Return a sweepstakes entry? With your results, even 1:800, I'd say, you're probably fine skipping the amnio. And, for reasons unrelated to my poor experience (we moved) I ended up switching obstetricians part way through my pregnancy. Thank you. During my pregnancy I have been amazed and delighted that my chronic and daily lower back and hip pains evaporated during the first and second trimesters. Be aggressive to get the extra healthcare and schooling that you will need. Based on a friend's advice, I had my husband gently rub my feet during the procedure and tried to focus all my energy on my feet during the needle part. What the researchers found was stunning: Theyestimatethat, if you are at high risk, a positive result for Down syndrome is correct 91% of the time and wrong 9% of the time [4]. Also, Dr. DePalma told me I would feel a pin prick and then slight cramping right before I felt them and that is all I felt. I wasn't sore and was able to go to work the next day. Mayo Clinic does not endorse companies or products. https://www.acog.org/womens-health/faqs/amniocentesis. The discussion in this article about people being at risk or not being at risk is misleading. I don't think, however, that there is any correlation between history of back injury and the type of labor you will have. Of course, an ultrasound is also a screening test, and cannot tell you for sure whether your baby has a disorder. I've know a woman who got a horrible infection, most likely for the amniocentesis, resulting in the loss of her baby. A provider uses a needle to remove a small amount of amniotic fluid from inside the uterus, and then a lab tests the sample. Major findings (e.g., cardiac defect) may require further assessment, whereas lesser findings or soft markers (e.g., pyelectasis, shortened femur) are not significantly associated with Down syndrome. Also, I did intense physical therapy for a slipped lumbar disk (spodylolisthesis, stage 2) all last fall, and am concerned about back pain during my next two trimesters and labor/delivery. Some physicians offer these tests only to women of a certain age, a practice that is controversial. If a dr.'s office or lab is saying that an amnio resulted in a false positive they probably should have . But amniocentesis comes with a risk of miscarriage andcan sometimes be wrong, too(either in the form of false-negative orfalse-positive results) though how often that happens in unclear [9]. I got the call from my DR. saying that i had got a positive on the blood test (Maternal Serum Screening) they had done to see if i would have a chance of having a down syndrome child. Now, a false positive means either I had a vanishing twin with T21 or confined placental mosaicism. 202 samples were NIPT positive with the detection rate was 1.16% (202/17,428). 25 Feb/23. Check out these best-sellers and special offers on books and newsletters from Mayo Clinic Press. I myself had a baby at 37 and declined prenatal screening and testing just in case anyone already made an assumption about my reason for these comments. Use of second-trimester ultrasound markers is also limited by a lack of standardized measurements and definitions, which contributes to inconsistency in diagnosing. It will increase her risk of having a miscarriage based on the low chance that the baby has Down Syndrome. In addition, 99 percent is not 100 percent, so there's an extremely rare (though possible) chance of a false positive or a false negative. . I'm so scared and torn about what to do. Stay informed about your cycle and fertility. We would terminate if Down's was present, but HOW accurate are amnios? Amnio is definitive for Down's as the extra chromosome can easily be seen, but the procedure only tests for a few gross genetic abnormalities, and very small ones (an intrachromosomal deletion, point mutation, etc.) . You might feel a sting when the needle enters your skin. Miraculously, the egg that I became pregnant with currently made its way from my UNattached ovary (they had to remove the fallopian tube) into my uterus and now I am happily expecting and hope to do a VBAC. Do you prevent it not be based on the low chance that the amnio is the only that. 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