Expanded Preconception Carrier Screening in Clinical Practice: Review of Technology, Guidelines, Implementation Challenges, and Ethical Quandaries

Clin Obstet Gynecol. 2019 Jun;62(2):217-227. doi: 10.1097/GRF.0000000000000437.


In the last 10 years, expanded preconception carrier screening has become widely available and helps patients/couples make more informed decisions with regard to their reproductive options and facilitates more effective preconception planning, prenatal diagnosis, condition-specific counseling, and condition-specific care. This review provides an overview of expanded preconception carrier screening's high-throughput genotyping and sequencing approaches, current guidelines, implementation challenges and evolving ethical quandaries.

Publication types

  • Review

MeSH terms

  • Female
  • Genetic Carrier Screening* / ethics
  • Genetic Counseling
  • Health Services Needs and Demand
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Oocyte Donation
  • Patient Acceptance of Health Care
  • Practice Guidelines as Topic
  • Practice Patterns, Physicians'
  • Preconception Care*
  • Spermatozoa
  • Tissue Donors / ethics