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 Statement

• What 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.

Keywords:

• Prenatal screening
• obstetrics
• prenatal diagnosis

Disclosure statement

The authors have no conflicts of interest to report.