Carrier screening for single gene disorders

Nancy C. Rose, Myra Wick

Research output: Contribution to journalReview articlepeer-review

7 Scopus citations


Screening for genetic disorders began in 1963 with the initiation of newborn screening for phenylketonuria. Advances in molecular technology have made both newborn screening for newborns affected with serious disorders, and carrier screening of individuals at risk for offspring with genetic disorders, more complex and more widely available. Carrier screening today can be performed secondary to family history-based screening, ethnic-based screening, and expanded carrier screening (ECS). ECS is panel-based screening, which analyzes carrier status for hundreds of genetic disorders irrespective of patient race or ethnicity. In this article, we review the historical and current aspects of carrier screening for single gene disorders, including future research directions.

Original languageEnglish (US)
Pages (from-to)78-84
Number of pages7
JournalSeminars in Fetal and Neonatal Medicine
Issue number2
StatePublished - Apr 2018


  • Carrier screening
  • Ethnic and founder screening
  • Expanded carrier screening
  • Family history-based screening
  • Newborn screening
  • Whole exome-based screening

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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