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prenatal genetic testing

Notes: - standard of care is testing via amniocentesis - tests based on fetal DNA in mother's blood introduced [3] - testing for aneuploidy: trisomy 13, trisomy 18 & trisomy 21 - testing for uniparental disomy - testing for fetal sex [3] - pregnant women educated about the potential risks & benefits of prenatal genetic screening are less likely to elect for screening [2]

General

DNA (genetic) testing

References

  1. Weaver C Tough Calls on Prenatal Tests. Companies Race to Promote New Genetic Screen for Down Syndrome; Worries About Patient Confusion. Wall Street Journal. April 3, 2-13 http://online.wsj.com/article/SB10001424127887324883604578398791568615644.html
  2. Kuppermann M et al Effect of Enhanced Information, Values Clarification, and Removal of Financial Barriers on Use of Prenatal Genetic Testing. A Randomized Clinical Trial. JAMA. 2014;312(12):1210-1217 PMID: 25247517 http://jama.jamanetwork.com/article.aspx?articleid=1906614 - Dolan SM Personalized Genomic Medicine and Prenatal Genetic Testing. JAMA. 2014;312(12):1203-1205. PMID: 25247514 http://jama.jamanetwork.com/article.aspx?articleid=1906588
  3. Allyse MA, Wick MJ Noninvasive Prenatal Genetic Screening Using Cell-free DNA. JAMA. Published online July 30, 2018 PMID: 30073283 https://jamanetwork.com/journals/jama/fullarticle/2695950