P764: The utility of hemoglobin electrophoresis in the setting of expanded carrier screening

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Authors: Joselle O'Brien, Eliana Wachstock, Emily Schlussel Markovic, Itamar D. Futterman, Robyn Weiss, Shoshana Haberman, Rodney Anthony McLaren, Tirtza Spiegel Strauss
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Abstract

American College of Obstetricians and Gynecologists (ACOG) recommends universal hemoglobinopathy screening for prenatal patients. Historically, this was performed via hemoglobin electrophoresis. However, expanded carrier screening (ECS) is increasingly used in the prenatal setting, and includes screening for hemoglobinopathies. We compared the concordance in detection rates between hemoglobin electrophoresis and ECS, with regards to identifying hemoglobinopathies.

Fields of Study & Subjects

Hemoglobinopathies and Related Disorders Prenatal Screening and Diagnostics Neonatal Health and Biochemistry

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104256–104256
Publication date
1 January 2026
Language
EN