Ethnicity-Based Carrier Screening

Jennifer R. King, Susan Klugman

Research output: Contribution to journalReview articlepeer-review

17 Scopus citations


Ethnicity-based carrier screening for single-gene disorders is an integral part of preconception and prenatal care. The role of ethnicity-based carrier screening has expanded over time with advancing technology. Patients and providers should understand the benefits and limitations of their screening options and engage in appropriate pretest and posttest counseling. The future management of single-gene disorders is changing and a time may be approaching when ethnicity-based carrier screening will be replaced with expanded carrier screening.

Original languageEnglish (US)
Pages (from-to)83-101
Number of pages19
JournalObstetrics and Gynecology Clinics of North America
Issue number1
StatePublished - Mar 2018


  • Autosomal recessive
  • Carrier screening
  • Ethnicity
  • Preconception

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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