Fetal Exome Sequencing on the Horizon

J Obstet Gynaecol Can. 2019 Jan;41(1):64-67. doi: 10.1016/j.jogc.2018.06.016.

Abstract

Prenatal whole exome sequencing has recently been introduced. It is evolving and although not currently ready for everyday clinical practice, it will likely become part of the diagnostic arsenal available to clinicians caring for couples carrying a pregnancy for which fetal anomalies have been identified. This commentary discusses what it is, its indications, its benefits, and its limitations.

MeSH terms

  • Congenital Abnormalities / diagnosis
  • Congenital Abnormalities / genetics*
  • Disease Management
  • Exome Sequencing*
  • Female
  • Fetus*
  • Genetic Counseling*
  • Humans
  • Practice Guidelines as Topic
  • Pregnancy
  • Preimplantation Diagnosis
  • Prenatal Diagnosis*
  • Prognosis
  • Risk Assessment
  • Whole Genome Sequencing