(705) Utilization of Genetic-Counseling and Carrier-Screening at a Single Center: A Quality Assessment Study

Friday, January 31, 2025

10:30 AM – 12:30 PM

Presenting Author(s)

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

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

Coauthor(s)

Mia Hodges, BS (she/her/hers)

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

Emily Hardisty, BA, 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
Chapel Hill, North Carolina, United States

Objective: To evaluate completion of basic carrier screening in a first pregnancy (G1) and factors associated with receipt.

Study Design: Chart review of G1 pregnancies at a single center between 01/2017 – 01/2024. Charts were randomly selected for quality assessment and were manually reviewed for provider notes to assess documentation (offered, accepted, declined); to review partner charts; and review neonatal charts for newborn screening (NBS) results. Patients were excluded if they received preconception care, infertility services, transferred into care above 20 weeks, or prenatal records were not available. Screening for variants in Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA), and Hemoglobinopathies (HB) defined complete carrier screening. Participants that elected for expanded carrier screening (ECS) were noted. Data was analyzed using descriptive statistics, t-test, and chi-square as appropriate. Analyses were completed using Stata 15.

Results: 450 maternal charts were reviewed. 158 were excluded (as above). The final cohort included 292 maternal, paternal, and neonatal charts (Table 1). 109 (37.3%) had genetic counseling and 98 (33.6%) had complete carrier screening. Of those that had genetic counseling, 54% had carrier screening; those that declined had ‘declined’ documented in the clinical note 100% of the time. Obstetric care providers did not routinely document declining carrier screening; this was identified 6 times in obstetric provider notes. 129 (44.2%) had CF screening, 109 (37.2%) had SMA screening, and 178 (61%) were screened for HB. Eleven (4%) of participants had ECS. No carrier couples or abnormal NBS were identified. Frequency of complete paternal testing when a maternal screen was positive is shown in Table 2. There were no significant differences in complete carrier screening or use of genetic counseling services based on race or insurance status.

Conclusion: One-third of randomly sampled G1 pregnancies since 2017 received complete carrier screening suggesting need to improve implementation and larger sample.