Trisomy 13

Living with

Can noninvasive prenatal testing (NIPT) be used for Trisomy 13?

Noninvasive prenatal testing (NIPT) is available for trisomy 13. NIPT is a screening option for pregnant women. This newer blood screening test has been available since 2013. Most laboratories offering this test state that the test identifies about 90% of pregnancies affected with trisomy 13. This test evaluates pieces of placental DNA that are outside of cells and are in the mother's blood. Parents are recommended not to make permanent decisions about the pregnancy solely based on NIPT results. Diagnostic testing like chorionic villus sampling (CVS) or amniocentesis can confirm or rule out a screen result. More research needs to be conducted to better understand and improve the accuracy of this test.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/trisomy-13/living-with/9653 • DATE UPDATED: 2016-06-21

References

Benn, P., Cuckle, H., and Pergament, E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol. 2013;42:15-33

Am J Obstet Gynecol. 2016 Jan 7. pii: S0002-9378(16)00005-3. doi: 10.1016/j.ajog.2016.01.003. [Epub ahead of print]Posttest risk calculation following positive noninvasive prenatal screening using cell-free DNA in maternal plasma.Benn P1

J Assist Reprod Genet. 2014 May;31(5):589-94. doi: 10.1007/s10815-014-0182-7. Epub 2014 Feb 5.Placental mosaicism for Trisomy 13: a challenge in providing the cell-free fetal DNA testing.Liu XY1, Zhang HG, Wang RX, Chen S, Yu XW, Liu RZ.

N Engl J Med. 2015 Apr 23;372(17):1589-97. doi: 10.1056/NEJMoa1407349. Epub 2015 Apr 1.Cell-free DNA analysis for noninvasive examination of trisomy.Norton ME1, Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H, Tomlinson MW, Pereira L, Spitz JL, Hollemon D, Cuckle H, Musci TJ, Wapner RJ.

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