A positive genetic screening test result, suggesting the baby has a disorder, can often be wrong, according to a recentbombshell reportfromThe New York Times. Most often, the disorders tested are Down syndrome, Edward syndrome, Patau syndrome, Turner syndrome, Klinefelter syndrome, Triple X syndrome, and Jacob syndrome [2]. When NIPT first became available a decade ago, it wasmainly usedfor pregnant women who had a high risk for having a baby with a chromosomal disorder [3]. The solid circle in the upper right corner represents the performance of routine amniocentesis for all women 35 years of age or older and indicates 100 percent detection with a false positive rate . 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. The procedure is pretty routine these days and risk of complications low. Specifically, pregnant people have ended pregnancies based only on the results of NIPS tests. Therefore, serum screening is not as sensitive in multiple pregnancies as it is in single pregnancies. ~Cheryl~. CVS is usually performed 10 to 12 weeks after your last menstrual period. A sample of the amniotic fluid, which surrounds a fetus in the womb, is collected through a pregnant woman's abdomen using a needle and syringe. My doctor is very concerned about doing it because of being in high risk pregnancy. However, even the lesser findings should be evaluated in the context of all other screening results, as well as patient age and medical history. such as amniocentesis and chorionic villus sampling, which can definitively reveal a condition. (Rats. Christina does a better job explaining this than the NYT article did, however, I would not call the NYT article a bombshell. This means you have better than a 99% chance of nothing being wrong. They have me scheduled for one at 16.5 weeks but I am terrified. Just like no doctor would do chemotherapy for breast cancer based on the results of a mammogram. When he was done, I said, ''Is that it?'' Coverage of guidelines from other organizations does not imply endorsement by AFP or the AAFP. I was on pins and needles waiting for the results and when they came back negative, the weight of the world was lifted off my shoulders. Remember, you are not required to have amnio, but there are some compelling reasons to do so, especially at ''advanced maternal age'' -- it can help to alleviate general pregnancy and ''my baby'' anxiety, and/or provide a foundation to deal with future planning. Note as well that 2 will receive a "negative" NIPS report-a false negative, since they are . Non -invasive prenatal testing (NIPT) on pregnant women to detect the risk of a fetus having rare genetic abnormalities may often be wrong, according to recent reports in the media. All the waits after every test just stressed me out too much. I myself had to sign a form saying I declined and understood my risk for a chromosome abnormality at my age. What were the negative or positive outcomes? Be aggressive to get the extra healthcare and schooling that you will need. Also, if they see something out of the ordinary, they usually do what they can to speed things up. (2021). Those who have chosen to have only one screening in the first trimester or who have had normal results from CVS should be offered neural tube defect screening (e.g., ultrasonography, serum alpha-fetoprotein levels) in the second trimester. In theory, contingent-type sequential testing would maintain a higher detection rate while reducing the number of second-trimester screening tests being performed. 308-339.https://doi.org/10.1146/annurev-genom-083118-015053. I had an amnio, it barely hurt, my baby was fine, and I had a healthy baby boy. This site complies with the HONcode standard for trustworthy health information: verify here. But why not talk to your ob-gyn about the CVB. Can't offer much in the way of the amnio. Until further evaluation is performed, assessing risk in multiple pregnancies should be done cautiously. Friday afternoon, I get a phone call from an unknown UCSF worker telling me to speed up my appointment for 20 week sonogram and speak w/ genetic counselor because, according to second blood drawn, my risk for Down's was now at 1 in 110! I am a Catholic genetic counselor and spent almost 20 years of my career in prenatal genetics. The FDA encourages test developers to provide accurate, clear, and complete information about the performance of their tests, how they should be used, and what the results may or may not mean. Given the increased use of these tests and concerns raised in recent media reports, the FDA is providing this information to educate patients and health care providers and to help reduce the inappropriate use of NIPS tests. When Claire Bell became pregnant she paid for a test that would indicate whether the baby had Down's Syndrome - and agreed to be screened for some other rare conditions at the . Maternal age of 35 years should not be used as a cutoff for offering diagnostic testing. First, a health care provider will use ultrasound to pinpoint where the baby is in the uterus. But you have to decide what is right for you. Some say that the rate of miscarriae in the control groups is roughly the same so I'm not convinced that amnio in itself causes miscarriage. ACOG does not recommend the use of NIPS tests to detect microdeletions. Those false positives are a big issue, Gammill said, because of the way the tests are marketed. Of course, I knew the possibilities and tested a high likelihood on the MSAFP test and went to the ''state required'' genetic counseling meeting with the intent to decline the amnio, but they really scare you and after the sonogram, the tech left the room and the dr came in telling us that we were further along than originally thought which raised our chances of downs even higher. We used the same physician. 8th ed. We opted not to get the amniocentesis because we decided we wouldn't terminate. If the screening test is positive and the patient chooses to proceed with a diagnostic procedure (e.g., CVS, amniocentesis), there is a higher chance of discovering an aneuploid fetus than if the . We found out in December we were having a little girl via NIPT but we found this out due to her increased risk of Turner Syndrome. I'm so scared and torn about what to do. BUT, I have had so many bad hospital experiences I am finding myself very untrusting of their numbers and data. Nucheal was very good at U/S. The FDA is concerned that these claims may not be supported with sound scientific evidence. That's what you need. The thought of having a child with Down's fills me with fear, despair, sorrow. There are clear signs they can look for on the developing fetus. If you think you had a problem with a non-invasive prenatal screening (NIPS) test, the FDA encourages you to report the problem through the MedWatch Voluntary Reporting Form. About the back -- I have had chronic back problems arising form a cluster of injuries when I was in my 20s -- compressed and degenerated discs in the 4th and 5th lumbar region, cervical disk compression and bone spurs, and a history of very acute muscle tension in both the ''bra'' (thoracic) and ''Girdle'' (pelvic) regions, both front and back. 8 February 2019. Trisomy 13 the rarest of the major trisomies, so it will also have the highest false positives. BUT, they recommended a 2nd trimester blood specimen, which I just had done last Monday. Of the remaining 294 NIPT-positive cases with nonmosaic karyotype, 56, or 19 percent, turned out to be false positives. [2] Ravitsky, Vardit et al. Do not use the results of screening tests such as NIPS tests alone to make decisions about your pregnancy because the results of these tests may not accurately reflect whether your fetus has a genetic abnormality. [10] Hui., L et al. We tried for a little while for another baby, then kind of gave up. I know that this means in all probability that my baby does have Down's. But I am hopeful that there is someone out there who has gone through amniocentesis test with results that read "positive" when the baby was actually fine. I did the 1st trimester combined screening at UCSF and it came back SCREEN NEGATIVE. If understood and used properly for counseling about RISKS then screening testing is a tool that can help alleviate anxiety for many IF THEY CHOOSE TO HAVE IT or can find people who may be at risk who want to know that. For example, pregnant women over the age of 35 have anelevated riskbecause of their age. Either way you will be blessed! Your health care provider will apply a gel to your belly and then use a small device known as an ultrasound transducer to show your baby's position on a monitor. Presence of seminal fluid and alkaline deodorant can result in false positive. Is there anyone who has had a similar experience with this decision making process who can offer advice? Keep breathing. And, having amnio was really no big deal. Maybe slight cramping, but nothing that I would have noticed, if I hadn't been looking for it. Noninvasive prenatal screening (NIPS) tests analyze small fragments of fetal DNA, called cell-free DNA, that are circulating in a pregnant person's blood with the goal of determining the risk that the fetus has certain genetic abnormalities. I have a friend who got an infection from her amnio - she felt fine before, was having an umcomplicated pregnancy and never felt right afterward. McGraw Hill; 2019. https://accessmedicine.mhmedical.com. I hope your friend is aware of how very, very, very risky doing an amnio is. We're in our 8th week of pregnancy, and need to schedule this procedure as soon as possible. . My amnio happened in 1999 and my daughter was born in 2000. Been There, My husband and I went in for a 16-week ultrasound/amnio. False negative results can occur when an insufficient amount of fetal cfDNA is present in the sample, resulting in masking on the fetal phenotype by the maternal cfDNA. As for relaxing during the procedure-- keep breathing. When I asked our genetic counselor how many of the women tested showed some abnormal AFP result, she said about a third. Good luck. Another reason I declined NIPT was because the only way to relieve my anxiety during pregnancy (should I receive a positive result from NIPT) would be to have an amniocentesis. for three days after; it meant I couln't lift my 2 yr. old up to my lap. For genetic amniocentesis, test results can rule out or diagnose some genetic conditions, such as Down syndrome. 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. Accuracy of Non-invasive prenatal Testing Using Cell-free DNA for Detection of Down, Edwards and Patau Syndromes: a Systematic Review and Meta-analysis.BMJ open, vol. It would be ideal to have someone stay with you too. 6, 2016, pp. Everyone is at risk of having a baby with Down syndrome by virtue of being pregnant. 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