Cvs does have some issues but can be done earlier than amnio. I found these stats on false positive rates for the NIPT: A more helpful statistic is the positive predictive value. Sometimes NIPT gives a high chance result when the fetus does not actually have the condition. Low fetal fractions can lead to an inability to perform the test or a false negative result. This testing analyzes small fragments of DNA that are circulating in a pregnant woman’s blood. That is super scary! Learn more. PubMed: 26287791. It will not work if you have a high BMI or are expecting multiples . Fact Sheet: Non-Invasive Prenatal Testing (NIPT), Questions Expectant Mothers Should Ask Before Prenatal Screening. After the NT blood test and the anatomy scan they've raised my chances to 1:128 of trisomy 21 so I am freaking out and waiting for NIPT results. MedlinePlus Medical Test: Prenatal Cell-Free DNA Screening, Dana-Farber Cancer Institute: Cell-free DNA. What are the risks and limitations of genetic testing? Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, Klugman S, Watson MS. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. What do the results of genetic tests mean? 2016 Oct;18(10):1056-65. doi: 10.1038/gim.2016.97. Eur J Hum Genet. CVS and amniocentesis are the ONLY diagnostic tests which will tell your conclusively if there is any chromosome abnormalities. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. 2015 Apr 1. doi: 10.1038/ejhg.2015.56. If you are considering not keeping the baby our system here on SK will ask to do the amnio. Genet Med. HuffPost is part of Verizon Media. NIPT primarily looks for Down syndrome (trisomy 21, caused by an extra chromosome 21), trisomy 18 (caused by an extra chromosome 18), trisomy 13 (caused by an extra chromosome 13), and extra or missing copies of the X chromosome and Y chromosome (the sex chromosomes). Because NIPT analyzes both fetal and maternal cfDNA, the test may detect a genetic condition in the mother. I found these stats on false positive rates for the NIPT: A more helpful statistic is the positive predictive value. I now have to go for an amniocentesis to confirm. What are whole exome sequencing and whole genome sequencing? Will health insurance cover the costs of genetic testing? National Human Genome Research Institute: Noninvasive Prenatal Genetic Testing, Centre for Genetics Education (Australia): Fact Sheet: Non-Invasive Prenatal Testing (NIPT), National Society of Genetic Counselors: Questions Expectant Mothers Should Ask Before Prenatal Screening. Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC. Generally, the fetal fraction must be above 4 percent, which typically occurs around the tenth week of pregnancy. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Obstet Gynecol. Drawbacks of NIPT. There are multiple NIPT methods to analyze fetal cfDNA. PubMed: 27467454. 2015 Sep;126(3):e31-7. The "NIPT" blood test results had come back to indicate that the fetus had tested positive for Monosomy X. Monosomy X (also known as Turner Syndrome) is a chromosomal abnormality where a female fetus has only one complete X sex chromosome. If it was negative then ur in clear- as it’s positive then u need to look at cvs and or amnio. Epub 2016 Jul 28. A family friend had a false positive, their baby was born without any genetic anomalies. I am currently in the same situation. Goldwaser T, Klugman S. Cell-free DNA for the detection of fetal aneuploidy.