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Expanded carrier screening for monogenic disorders: where are we now?

Davit Chokoshvili1, Danya Vears1, Pascal Borry1

  • 1Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, University of Leuven, Leuven, Belgium.

Prenatal Diagnosis
|July 8, 2017
PubMed
Summary

Expanded carrier screening (ECS) tests vary widely in the number of conditions screened and mutation analysis. This heterogeneity raises concerns for reproductive decision-making and highlights the need for standardized development criteria.

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