What do the new American College of Medical Genetics and Genomics (ACMG) guidelines mean for the provision of non-invasive prenatal genetic screening?

Abstract

In 2016, the American College of Medical Genetics and Genomics updated their practice guidelines on the provision of non-invasive prenatal genomic screening using cell-free DNA. This article lays out the changes to the guidelines and their implications for clinical practice.Impact StatementWhat is already known on this subject.cfDNA is being translated into prenatal clinical practice at a rapid pace. Various professional societies have attempted to provide ongoing guidance for this translation. What the results of this study add.The latest recommendations from the American College of Medical Genetics offer the most recent practice guidelines for how to implement cfDNA in clinical practice. What the implications are of these findings for clinical practice and/or further research.This summary offers concise suggestions for practitioners on implementing the new guidelines.