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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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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.
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...
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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public

Irene Mademont-Soler1,2, Neus Castells-Sarret3,4, Adela Cisneros5

  • 1Àrea de Genètica Clínica i Consell Genètic, Laboratori Clínic Territorial ICS Girona, Hospital Universitari de Girona Dr. Josep Trueta, Girona, Spain.

Prenatal Diagnosis
|January 15, 2025
PubMed
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Incidental findings (IFs) from prenatal microarrays occurred in 1.6% of cases. New consensus criteria will increase reporting of these copy number variants (CNVs) to ensure consistent prenatal diagnosis.

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Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Bioinformatics

Background:

  • Copy number variants (CNVs) are increasingly detected through prenatal microarrays.
  • Incidental findings (IFs) represent a significant challenge in prenatal diagnosis due to varying clinical significance and reporting practices.

Purpose of the Study:

  • To determine the frequency of pathogenic CNVs as incidental findings (IFs) in prenatal diagnosis.
  • To establish consensus recommendations for standardizing the reporting of IFs across multiple healthcare centers.

Main Methods:

  • Retrospective analysis of 4219 prenatal microarrays from 2018-2023.
  • Literature review and discussion meetings to develop consensus criteria for IF reporting.

Main Results:

  • A 1.6% detection rate for IFs was observed, identifying 69 CNVs across various disorder categories.
  • New consensus criteria would increase the reporting rate of IFs compared to historical practices.
  • Long-term follow-up indicated clinical manifestations in newborns with high penetrance CNVs.

Conclusions:

  • Incidental findings (IFs) are more frequent than previously recognized in prenatal microarrays.
  • Standardized reporting recommendations are crucial for consistent interpretation and clinical management of IFs.
  • An ad hoc committee was established to manage complex incidental findings.