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Poster Session 3

Category: Genetics

Poster Session 3

(700) Factors Associated with Completion of Tier 1 Carrier Screening

Thursday, February 12, 2026

10:30 AM - 12:00 PM

Presenting Author(s)

AM

Adams Mikaela, BS

University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States

Coauthor(s)

Maura Jones Pullins, MD (she/her/hers)

Fellow
University of North Carolina, Chapel Hill
Durham, North Carolina, United States
Mia Hodges, BS (she/her/hers)

MS4
University of North Carolina at Chapel Hill
University of North Carolina, North Carolina, United States
EH

Emily Hardisty, MS

Instructor
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States
MD

Madeline Dyke, MS

University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States
Neeta L. Vora, MD

Associate Professor
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States

Submitting Author(s)

Asha N. Talati, MD, MSCR (she/her/hers)

Assistant Professor
University of North Carolina at Chapel Hill
University of North Carolina at chapel Hill, North Carolina, United States

Objective:
To evaluate factors associated with completion of carrier screening (CS) during pregnancy at a quaternary care referral center.

Study Design:
Chart review of G1 pregnancies at a single center from 01/2017 – 01/2024. Charts were manually reviewed for orders, documentation, and results of CS. Partner and neonatal charts were assessed for completion of CS and newborn screening (NBS). Exclusions included preconception or infertility care, transfer > 20 weeks, unavailable prenatal records, or use of cell-free DNA-based CS. Complete Tier 1 CS was defined as screening for Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA), and Hemoglobinopathies (HB) (Tier 1). Compete fetal risk assessment was defined as screening in both partners if maternal carrier status was identified. Data were analyzed using descriptive statistics, t-test, and chi-square in Stata18.

Results:
Of 1,524 maternal charts reviewed, 522 were excluded with a final cohort of 1,002 charts (Table 1). Overall, 646 (64.5%) underwent some form of CS; among those, 477 (73.8%) were screened for CF, 415 (64.2%) for SMA, and 617 (96%) for HB. Complete Tier 1 CS was documented in 372 (37.1%) patients. Patients who received genetic counseling were more likely to have complete Tier 1 CS compared to those who did not (53.4% vs. 46.6%, p< 0.001). 83 patients were identified as Tier 1 carriers. Of those, 27 (32.5%) had complete fetal risk assessment, which was significantly more likely in those who received genetic counseling (73.5% vs. 26.5%, p< 0.001). Patients seen in generalist or midwifery practices had higher rates of complete Tier 1 CS (p< 0.001) while insurance status was not associated (Figure 2). Among 81 neonates with a positive NBS, 52 (64%) screened positive for CF or HB. 1 neonate was confirmed positive for CF without documented parental screening. 1 neonate was confirmed positive for Sickle Cell Disease with complete fetal risk assessment.

Conclusion:
Our findings underscore persistent gaps in the implementation of carrier screening guidelines. Enhancing access to genetic counseling may be a key strategy for improvement.