Expanded carrier screening: what the reproductive endocrinologist needs to know

Jeffrey Dungan*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

6 Scopus citations

Abstract

Expanded carrier screening refers to identification of carriers of single-gene disorders outside of traditional screening guidelines. New genetic testing technologies allow for such screening at costs that are comparable to single-gene testing. There is a high degree of variability among genetic testing laboratories as to the inclusion of different disorders, some of which have mild or unpredictable phenotypes. This review discusses the pros and cons of using expanded carrier screening in the preconceptional patient and reviews guidelines currently endorsed by professional organizations.

Original languageEnglish (US)
Pages (from-to)183-189
Number of pages7
JournalFertility and Sterility
Volume109
Issue number2
DOIs
StatePublished - Feb 2018

Keywords

  • Carrier screening
  • Mendelian disorders
  • next-generation sequencing
  • preconception

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

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