Considerations for whole exome sequencing unique to prenatal care

  • Ahmad Abou TayounEmail author
  • Heather Mason-SuaresEmail author
Part of the following topical collections:
  1. Feto-Maternal Genomic Medicine


Whole exome sequencing (WES) is increasingly being used in the prenatal setting. The emerging data support the clinical utility of prenatal WES based on its diagnostic yield, which can be as high as 80% for certain ultrasound findings. However, detailed practice and laboratory guidelines, addressing the indications for prenatal WES and the surrounding technical, interpretation, ethical, and counseling issues, are still lacking. Herein, we review the literature and summarize the most recent findings and applications of prenatal WES. This review offers specialists and clinical genetic laboratorians a body of evidence and expert opinions that can serve as a resource to assist in their practice. Finally, we highlight the emerging technologies that promise a future of prenatal WES without the risks associated with invasive testing.



We would like to acknowledge Matt Lebo, PhD and Kalotina Machini, PhD, CGC for critical review of the manuscript.

Compliance with ethical standards

Conflict of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

Supplementary material

439_2019_2085_MOESM1_ESM.docx (45 kb)
Supplementary material 1 (DOCX 45 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Al Jalila Children’s Specialty HospitalDubaiUAE
  2. 2.Departments of PathologyHarvard Medical School and Brigham and Women’s HospitalBostonUSA
  3. 3.Laboratory for Molecular MedicinePartners HealthCare Personalized MedicineCambridgeUSA

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