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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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Related Experiment Video

Updated: May 16, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Newborn screening and cascade testing for FMR1 mutations.

Page L Sorensen1, Louise W Gane, Mark Yarborough

  • 1University of California Davis Medical Center, Sacramento, CA, USA.

American Journal of Medical Genetics. Part A
|December 15, 2012
PubMed
Summary
This summary is machine-generated.

Newborn screening for FMR1 mutations identifies carriers, enabling early intervention and informed reproductive choices. Cascade testing in extended families reveals more carriers, highlighting the benefits of this approach.

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Published on: December 1, 2017

Area of Science:

  • Genetics
  • Neurology
  • Public Health

Background:

  • Fragile X syndrome is a leading genetic cause of intellectual disability.
  • Early identification of FMR1 premutations is crucial for managing associated risks.
  • Newborn screening (NBS) offers a potential avenue for early detection.

Purpose of the Study:

  • To evaluate the feasibility and outcomes of NBS for FMR1 mutations.
  • To assess the utility of cascade testing in identifying at-risk family members.
  • To explore the benefits and risks associated with NBS and cascade testing for FMR1 mutations.

Main Methods:

  • Pilot project implementing NBS for FMR1 mutations at the MIND Institute, UC Davis.
  • Cascade testing of extended family members upon identification of a positive newborn.
  • Analysis of family histories to illustrate benefits and risks.

Main Results:

  • 3,042 newborns screened, identifying 14 newborns with FMR1 mutations.
  • 44 extended family members tested, identifying 27 carriers.
  • Case studies demonstrate benefits of early detection and intervention.

Conclusions:

  • NBS for FMR1 mutations, coupled with genetic counseling and cascade testing, offers significant benefits.
  • Early identification facilitates prophylactic interventions and lifestyle changes to mitigate neurological/psychiatric risks.
  • Cascade testing expands reproductive choices and treatment access for at-risk individuals and families.