P744: Inconsistencies in carrier screening guidelines result in inconsistencies in equitable fetal risk detection

Genetics in Medicine Open 2026 Open access

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Authors: Summer Pierson, Seyedmehdi Shojaee, Catherine A. L. Wicklund, Katie Johansen Taber, Dale Muzzey
DOI: 10.1016/j.gimo.2026.104236
Cited by: 0

Abstract

Carrier screening for recessive disease risk is an important component of reproductive risk assessment for pregnant and prospectively pregnant patients. ACOG currently emphasizes provider consistency over a specific panel and recommends universal screening for only 2 conditions (cystic fibrosis (CF) and spinal muscular atrophy (SMA)) for all pregnancies. In contrast, ACMG recommends universal screening for 113 conditions. The discrepancies in these screening guidelines result in a wide variety of screening strategies that providers and patients may pursue.

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
104236–104236
Publication date
1 January 2026
Language
EN