What's New in Prenatal Genetics? A Review of Current Recommendations and Guidelines

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Abstract

Importance

The rapid development of prenatal genetic testing and screening tools and choices constantly challenges clinicians to stay up to date on current best practice.

Objective

We sought to review, compare, and summarize recent national society guidelines on prepregnancy genetic screening and prenatal diagnosis for aneuploidy with a focus on changes and additions to previous guidelines.

Evidence Acquisition

We performed a descriptive review of 8 recently published (2016–2017) national guidelines and updates on prenatal genetic screening and testing including American Congress of Obstetricians and Gynecologists committee opinions and practice bulletins, Society for Maternal-Fetal Medicine consult series publications, and an American College of Medical Genetics and Genomics position statement. Topics included carrier screening, cell-free DNA screening, chromosomal microarray analysis, next-generation sequencing, and prenatal diagnostic testing. The recommendations in these publications were compared, and the additions and changes to previous recommendations and guidelines were summarized.

Results

Recent publications contain many updates and changes to previous screening and testing strategies, most of which are consistent between professional societies. Although many new technologies have been integrated into prenatal diagnosis, some newer technologies are not yet routinely recommended for widespread use, often because of lack of clinical trials and validation studies.

Conclusions

Prenatal screening and testing options are rapidly expanding. To provide best-practice prenatal care, obstetric care providers should educate themselves about the most up-to-date recommendations and be prepared to interpret and apply these guidelines to their patients. Society guidelines are largely in agreement.

Target Audience

Obstetricians and gynecologists, family physicians.

Learning Objectives

After completing this activity, the learner should be able to identify best practice guidelines regarding prenatal carrier screening and genetic diagnosis, including recent changes in recommendations; specific topics include carrier screening, use of cell-free fetal DNA screening, microarray testing, next-generation sequencing, and invasive testing; and use these guidelines by offering appropriate strategies to their patients, including referral to a specialist when appropriate.

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