Expanded carrier screening: A review of early implementation and literature

Semin Perinatol. 2016 Feb;40(1):29-34. doi: 10.1053/j.semperi.2015.11.005. Epub 2015 Dec 21.


Carrier screening is the practice of testing individuals to identify those at increased risks of having children affected by genetic diseases. Professional guidelines on carrier screening have been available for more than 15 years, and have historically targeted specific diseases that occur at increased frequencies in defined ethnic populations. Enabled by rapidly evolving technology, expanded carrier screening aims to identify carriers for a broader array of diseases and may be applied universally (equally across all ethnic groups). This new approach deviates from the well-established criteria for screening models. In this review, we summarize the rationale for expanded carrier screening using available literature regarding clinical and technical data, as well as provider perspectives. We also discuss important avenues for further research in this burgeoning field.

Keywords: carrier screening; expanded carrier screening; genetics; preconception; prenatal; recessive disease.

Publication types

  • Review

MeSH terms

  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics
  • Ethnicity / genetics
  • Genes, Recessive / genetics*
  • Genetic Carrier Screening / methods*
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics*
  • Genetic Testing / methods*
  • Humans
  • Muscular Atrophy, Spinal / diagnosis
  • Muscular Atrophy, Spinal / genetics
  • Practice Guidelines as Topic*
  • Preconception Care / methods*