2026 Theses Master's

Is traditional carrier screening best for all? Investigating the uptake of partner carrier screening and utility of sgNIPT in a public insurance-based clinic population.

Doerger, Hannah; Spiegel, Erica; Wynn, Julia; Florido, Michelle E.; Giordano, Jessica L.

Background: Multiple organizations have endorsed the utility of carrier screening (CS) for reproductive patients to assess the risk of having a pregnancy affected by an autosomal recessive (AR) condition. However, after a carrier is identified, the uptake of partner CS is low (20-50%), leading to under-identification of fetuses at risk. Recently, single-gene non-invasive prenatal testing (sgNIPT) has been introduced into prenatal care to examine cell-free DNA from the pregnant person to assess fetal risk for certain AR and X-linked conditions. Although research has examined factors influencing the uptake of partner screening, few have evaluated an extended list of demographic and pregnancy characteristics to predict uptake, nor has a hypothetical analysis of the performance of sgNIPT compared to traditional CS been conducted.

Objective: This study explored demographic and pregnancy characteristics associated with partner CS uptake in a predominantly Hispanic, publicly insured population. Additionally, the potential for fetal risk assessment with sgNIPT was examined through a hypothetical analysis.

Methods: This was a retrospective chart review of pregnant patients evaluated in two public insurance-based OBGYN clinics at NewYork-Presbyterian (NYP) Hospital who completed CS through an expanded panel (111 genes, tier 3 ACMG compliant) and were found to have a pathogenic variant for the AR conditions screened. Results and characteristics collected were entered into a centralized database, and descriptive statistics and chi-square analysis were used on the dataset. A hypothetical analysis of sgNIPT performance was done by identifying the number of carriers who may have been identified with the largest sgNIPT panel currently on the market.

Results: The cohort was composed of 100 patients, 78% of whom identified as Hispanic/Latina. Forty-five partners completed CS, though due to sample issues only 34 successfully received a result and complete risk assessment. The median time between patient CS and disclosure of partner results was 53 days. There were no significant differences in demographic characteristics or pregnancy characteristics between patients whose partners completed testing and those whose did not, including testing positive for more than one condition, relationship status, having previous pregnancies, gestational age, presence of a genetics consultation, mean age of patients, patient language spoken, and race/ethnicity of patients. Of the 100 patients, 33 were carriers of a condition included on a sgNIPT panel. One of four couples identified as carrier couples would have been missed by a workflow utilizing only sgNIPT.

Conclusion: This study demonstrates partner CS uptake in a primarily Hispanic, publicly insured population is comparable to other populations previously examined. The lack of statistical significance in partner uptake rates across pregnancy and demographic characteristics in our study suggests uniform partner carrier screening among populations may be achieved, despite factors previously shown to be limiting. Additionally, this study demonstrates the ability of sgNIPT to provide a risk assessment as frequently as the traditional ECS workflow in this population. sgNIPT may be a useful tool to provide a personalized risk assessment for those who are identified to be a carrier of a condition included on one of the panels and for whom partner testing cannot be completed.

Keywords: genetics, carrier screening, expanded carrier screening, partner uptake, sgNIPT, publicly insured, Hispanic population