P730: Actionable parental diagnoses from expanded carrier screening

Genetics in Medicine Open 2026 Open access

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Authors: Lauren O’Grady, Michelle Joy Wang, Allissia A. Gilmartin, Carrie L. Blout Zawatsky, Harini Somanchi, Julie Yeo, Rachel Hickey, Staci Kallish, Amanda Barone Pritchard, Anne Mardy, Allegra M. Quadri, Colby L. Chase
+7 more Emily Shelkowitz, Irene Chang, Joshua Baker, Kate Swanson, Katherine Anderson, Maria Laura Duque Lasio, Nina Gold
DOI: 10.1016/j.gimo.2026.104222
Cited by: 0

Abstract

Carrier screening is a recommended practice in preconception and prenatal care to screen individuals and couples to determine if their fetus is at risk of a genetic condition. As screening options have broadened to screen for an increasing breadth of conditions, this practice is also increasingly identifying adult patients with a pathogenic genetic diagnosis themselves.

Fields of Study & Subjects

Prenatal Screening and Diagnostics Genomics and Rare Diseases Medical and Health Sciences Research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104222–104222
Publication date
1 January 2026
Language
EN