Cell free DNA prenatal screening is a relatively new but increasingly important part of prenatal care. This presentation provides a foundation of understanding the physiology and technology of sampling and analyzing cell free DNA. Accuracy of screening is compared among the various sampling of technologies (massively parallel shotgun sequencing, targeted sequencing, and single nucleotide polymorphisms) and to existing screening tests. Threats to accuracy/validity are discussed. Different professional group guidelines are reviewed. Pre-testing and post-testing patient counseling is outlined. Resources for continued knowledge development are provided.
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