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Related Concept Videos

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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Related Experiment Video

Updated: Feb 27, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Carrier screening for single gene disorders.

Nancy C Rose1, Myra Wick2

  • 1Intermountain Healthcare, University of Utah Health Sciences, Intermountain Medical Center, Maternal Fetal Medicine, Salt Lake City, UT, USA.

Seminars in Fetal & Neonatal Medicine
|July 4, 2017
PubMed
Summary
This summary is machine-generated.

Genetic carrier screening has evolved from newborn screening for phenylketonuria to expanded carrier screening (ECS) analyzing hundreds of genetic disorders. This review covers historical, current, and future aspects of single gene disorder carrier screening.

Keywords:
Carrier screeningEthnic and founder screeningExpanded carrier screeningFamily history-based screeningNewborn screeningWhole exome-based screening

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Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Screening

Background:

  • Newborn screening for phenylketonuria began in 1963.
  • Molecular technology advances have expanded genetic screening availability and complexity.
  • Carrier screening options include family history, ethnic-based, and expanded carrier screening (ECS).

Observation:

  • Expanded carrier screening (ECS) analyzes carrier status for hundreds of genetic disorders.
  • ECS is panel-based and performed irrespective of patient race or ethnicity.
  • Carrier screening identifies individuals at risk for passing on genetic disorders.

Findings:

  • Carrier screening has become more complex and widely available due to technological advancements.
  • Expanded carrier screening offers comprehensive analysis for numerous single gene disorders.
  • Current carrier screening methods build upon historical practices.

Implications:

  • Expanded carrier screening provides a broader approach to identifying genetic risks.
  • Future research directions are crucial for advancing carrier screening technologies.
  • Enhanced carrier screening can inform reproductive planning and genetic counseling.