Noninvasive Prenatal GeneticTesting Using Maternal Serum

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The triple screen finds abnormalities caused by aneuploidy by testing for human chorionic gonadotropin, unconjugated estriol and alpha-fetoprotein, three chemicals found in the maternal serum. The quadruple screen tests for the same chemicals with the addition of inhibin A (Farrell). These tests are examples of maternal serum alpha-fetoprotein screening that can be done on “all pregnant women, regardless of their risk of having a baby with Down syndrome or neural tube defects, serious malformations of the brain and spine” with the exception of women experiencing multiple pregnancy (Press 75, Brody). Maternal serum alpha-fetoprotein screening uses a sample of the pregnant woman’s blood for the testing, but does not make use of the cfDNA found in the blood (Press, Rothaus). Noninvasive prenatal testing using maternal serum has developed since the triple and quadruple screening tests were established in the late 1980s and early 1990s. “First trimester aneuploidy screening is a new screening approach consisting of an assessment of maternal serum markers in conjunction with the sonographic measurement of the back of the fetal neck” (Farrell 5). This procedure can be done “as early as eleven weeks into gestation,” and gives information that is similar to that given by the triple and quadruple screening tests, which cannot be completed until after fifteen weeks of gestation (Farrell 5). New technology in noninvasive prenatal genetic screening tests has proven quite successful in determining the likelihood of a genetic malformation. These highly accurate tests “work by using a sample of cell-free fetal DNA circulating in the mother’s blood,” which can be collected as early as five to seven weeks into gestation “to detect chromoso... ... middle of paper ... ...14. Rothaus, Carla. "DNA Sequencing versus Standard Prenatal Aneuploidy Screening." Now @ NEJM. New England Journal of Medicine, 26 Feb 2014. Web. 25 Mar. 2014. Shane, Jeffery. "How prenatal genetic testing protects patients—and you." OBG Management. 19.12 (2007): 25-36. Print. Steinbock, Bonnie. "Prenatal testing for adult-onset conditions: cui bono?." Reproductive BioMedicine Online. 15.2 (2007): 38-42. Web. 26 Feb. 2014. Szabo, Liz. "Earlier Prenatal Tests Usher in 'Heartbreaking' Decisions." USA TODAY. 02 May. 2013: p. A.1. SIRS Issues Researcher. Web. 03 Feb. 2014. United States. National Institute of Health. Massively Parallel Signature Sequencing (MPSS). Bethesda, MD: National Center for Biotechnology Information, Web. Weaver, Christopher. "Tough Calls on Prenatal Tests." Wall Street Journal. 04 Apr. 2013: p. B.1.SIRS Issues Researcher. Web. 03 Feb. 2014.

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