prenatal genetic testing

^[1]^[2]^[3]

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]

↑ 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
↑ ^2.0 ^2.1 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 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/25247517 <Internet> http://jama.jamanetwork.com/article.aspx?articleid=1906614
Dolan SM Personalized Genomic Medicine and Prenatal Genetic Testing. JAMA. 2014;312(12):1203-1205. <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/25247514 <Internet> http://jama.jamanetwork.com/article.aspx?articleid=1906588
↑ ^3.0 ^3.1 ^3.2 Allyse MA, Wick MJ Noninvasive Prenatal Genetic Screening Using Cell-free DNA. JAMA. Published online July 30, 2018 PMID: https://www.ncbi.nlm.nih.gov/pubmed/30073283 https://jamanetwork.com/journals/jama/fullarticle/2695950