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Related Experiment Video

Updated: May 11, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

ACMG position statement on prenatal/preconception expanded carrier screening.

Wayne W Grody1, Barry H Thompson, Anthony R Gregg

  • 1Division of Medical Genetics, UCLA School of Medicine, Los Angeles, California, USA. wgrody@mednet.ucla.edu

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|April 27, 2013
PubMed
Summary
This summary is machine-generated.

Expanded carrier screening using next-generation sequencing offers broader genetic disorder detection for pregnancy planning. Clear communication regarding disorder selection, mild phenotypes, and residual risk is crucial for informed patient decisions.

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Area of Science:

  • Reproductive genetics
  • Genetic screening technologies
  • Clinical genetics

Background:

  • Traditional gene-by-gene carrier screening is limited in scope.
  • Next-generation sequencing (NGS) enables broader, more efficient carrier screening.
  • Current practices require careful consideration of expanded panel implications.

Purpose of the Study:

  • To discuss the benefits and challenges of expanded carrier screening panels.
  • To emphasize the need for transparency in disorder selection and result interpretation.
  • To highlight the importance of patient counseling regarding residual risk and opt-out options.

Main Methods:

  • Review of current carrier screening practices.
  • Analysis of NGS capabilities for expanded carrier screening.
  • Discussion of ethical and counseling considerations.

Main Results:

  • NGS allows for high-fidelity, rapid, and cost-effective screening of numerous genetic disorders.
  • Expanded panels necessitate clear disclosure of selection criteria and disorder characteristics (e.g., mild phenotypes, adult onset).
  • Patients must be informed about residual risk and have the option to decline results for certain conditions.

Conclusions:

  • Expanded carrier screening panels offer significant advantages but require careful implementation.
  • Transparent communication and comprehensive patient counseling are essential for ethical and effective use of these technologies.
  • Laboratories play a vital role in facilitating informed decision-making for patients undergoing genetic screening.