Application of exome sequencing for prenatal diagnosis: a rapid scoping review

Genet Med. 2020 Dec;22(12):1925-1934. doi: 10.1038/s41436-020-0918-y. Epub 2020 Aug 4.


Genetic diagnosis provides important information for prenatal decision-making and management. Promising results from exome sequencing (ES) for genetic diagnosis in fetuses with structural anomalies are emerging. The objective of this scoping review was to identify what is known about the use of ES for genetic testing in prenatal cases with known or suspected genetic disease. A rapid scoping review was conducted over a six-week timeframe of English-language peer-reviewed studies. Search strategies for major databases (e.g., Medline) and gray literature were developed, and peer reviewed by information specialists. Identified studies were categorized and charted using tables and diagrams. Twenty-four publications were included from seven countries published between 2014 and 2019. Most commonly reported outcomes were diagnostic yields, which varied widely from 5% to 57%, and prenatal phenotype. Few studies reported clinical outcomes related to impact, decision-making, and clinical utility. Qualitative studies (n = 6) provided useful insights into patient and health-care provider experiences with ES. Findings suggest prenatal ES is beneficial, but more research is needed to better understand the clinical utility, circumstances for ideal use, feasibility, and costs of offering rapid ES as a routine option for prenatal genetic testing.

Keywords: congenital anomalies; exome sequencing; prenatal genetic diagnosis; scoping review; systematic review.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Exome Sequencing
  • Exome* / genetics
  • Female
  • Fetus
  • Genetic Testing*
  • Humans
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis