P728: A comparison of the performance of reproductive carrier screening based on the ACMG tier 3 panel versus current ACOG recommendations

Genetics in Medicine Open 2026 Open access

Read full text
Authors: Vivienne Souter, Victoria Blank, Eugenia Martinez Jaime, Yang Wang, E.M. Armenti, Linyan Meng, Xiaoyan Ge, Kathleen D. Kueck, Ashley Cantu-Weinstein, Samantha J. Leonard, Jeffrey R. Dungan, Asma A. Khalil
+1 more PETER A. BENN
DOI: 10.1016/j.gimo.2026.104220
Cited by: 0

Abstract

The American College of Medical Genetics and Genomics (ACMG) recommends that the current reproductive carrier screening (RCS) practice should be to offer a pan-ethnic 113-gene “Tier 3” panel that includes high-prevalence conditions with moderate to severe phenotypes. The American College of Obstetricians and Gynecologists (ACOG) recommends pan-ethnic RCS only for cystic fibrosis, spinal muscular atrophy, and hemoglobinopathies, with additional testing based on race, ethnicity, and family and medical history.

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
104220–104220
Publication date
1 January 2026
Language
EN