Poster Session 3
Ajitha Chivukula, BS (she/her/hers)
Medical Student
University of Connecticut School of Medicine
University of Connecticut School of Medicine, Connecticut, United States
Brittany Gancarz, MS
Clinical Genetics Counselor
University of Connecticut Health
University of Connecticut Health, Connecticut, United States
Makayla Murphy, MPH
Clinical Research Associate
University of Connecticut Health
University of Connecticut Health, Connecticut, United States
.jpg "Andrea D. Shields, MD, MS (she/her/hers) photo")
Andrea D. Shields, MD, MS (she/her/hers)
Program Director, Maternal Fetal Medicine Fellowship
University of Connecticut Health
Avon, Connecticut, United States
A retrospective cohort analysis was conducted on pregnant patients with positive carrier screens and their partners at a tertiary academic medical center between 6/1/2021 and 5/31/2024. Inclusion criteria were pregnant people (18+) with singleton pregnancies who tested positive for an autosomal recessive condition in the first or second trimester and underwent genetic counseling. The primary outcome was uptake rates for genetic screening in partners of pregnant people with positive carrier screens. Secondary outcomes were reasons for deferring partner screening. Baseline characteristics were summarized using frequencies and percentages for categorical variables and mean and standard deviation for continuous variables.
Results: During the study period, 701 abnormal genetic screens were identified, of which 587 were in pregnant people who met inclusion criteria. Most abnormal screens (56.4%) were identified from pan-ethnic screening while 8% were identified through targeted carrier screening. The uptake rate of partner screening was 48.04%, with 33.3% undergoing targeted screening for a specific condition and 60% undergoing a panethnic panel. 38.9% of partners had discordant positive carrier results for conditions unrelated to the pregnant person’s condition. Genetic screening by blood samples occurred in 76.7% of partner tests, while 23.3% were from saliva samples. The most common reasons partners deferred genetic screening included perceived low risk of inheritance for the condition (61%), busy work schedules/life factors (21%), and costs (9%).
Conclusion:
Our results show that nearly half of the partners of pregnant individuals who receive genetic counseling for abnormal carrier screens accept targeted or enhanced genetic screening, mostly through blood sampling. Partners’ perceptions of risk and screening convenience significantly influenced their decisions to defer screening.
