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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...

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Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases.

Mathias Ehrich1, John Tynan1, Amin Mazloom1

  • 1Sequenom, San Diego, California, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|June 16, 2017
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Summary

A new genome-wide cell-free DNA (cfDNA) screening test detects more genetic abnormalities than standard methods. This advanced screening identifies a significant number of copy-number variations missed by traditional noninvasive prenatal screening.

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Area of Science:

  • Genetics
  • Prenatal Diagnostics
  • Molecular Biology

Background:

  • Invasive prenatal testing offers comprehensive fetal genetic information.
  • Standard noninvasive prenatal screening using cell-free DNA (cfDNA) is limited to common trisomies and sex chromosome aneuploidies.
  • This limitation leaves many chromosomal and subchromosomal copy-number variations undetected.

Purpose of the Study:

  • To evaluate the clinical utility and detection capabilities of a novel genome-wide cfDNA screening test.
  • To analyze the first 10,000 cases utilizing this advanced screening method.

Main Methods:

  • Retrospective review of 10,000 cases submitted for genome-wide cfDNA screening.
  • Comparison of case indications and positive call rates with standard cfDNA screening protocols.

Main Results:

  • The genome-wide cfDNA screening cohort showed different high-risk indications compared to standard screening (more ultrasound, less advanced maternal age).
  • A total of 554 positive calls were made.
  • 164 of these positive calls were for conditions not detectable by standard cfDNA screening.

Conclusions:

  • Genome-wide cfDNA screening demonstrates higher positivity rates than standard cfDNA screening.
  • A substantial proportion of positive findings from genome-wide screening would be missed by conventional methods.
  • This technology has the potential to significantly narrow the detection gap in prenatal genetic screening.