Introduction:
Minority patients are underrepresented in studies of experience with genetic testing. The objective of this study is to describe experiences of prenatal genetic diagnosis (PGD) among pregnant people (PP) that self-identify as Black or Latin-X with ultrasound detected fetal anomalies.

Methods:
Qualitative study of PP that self-identify as Black or Latin-X with ultrasound detected fetal anomalies offered genetic counseling and PGD care between 11/22 – 01/24 at a tertiary care center. Interviews were conducted by team members that had ethnic and language concordance with participants. Interviews were one-on-one, semi structured, recorded and transcribed. Interviews with Spanish-speaking participants were translated to English for analysis. Interview domains included the following: respect, trust and genetic privacy, quality of care, and support. Interviews were coded and analyzed using thematic analysis and sampling was completed after theme saturation was achieved. All participants completed a demographic survey and the Everyday Discrimination Scale (EDS), a validated tool to assess the experiences of racial and ethnic minority groups.

Results:
Twenty-four interviews were completed . All participants had complex, multiple anomaly fetal phenotypes. Mean age of patients in the cohort was 29 (SD 5.4). Twelve participants (50%) identified as non-Hispanic Black, 50% identified as having Hispanic/Latin-X ethnicity. Seven (29%) spoke Spanish as their primary language. Nineteen (79%) reported being married, 11(46%) reported being employed, 22 (92%) reported at least a high school education. Six (25%) participants had an amniocentesis and 5 (21%) had termination of pregnancy.

 

Several key themes were identified across the cohort.  (1) Respectful care was equated with good communication practices. Participants described providers: “listening to me,” “not using medical terms,” “providing resources and follow up,” “gave me time to ask questions,” “gave us contact information.” (2) Participants described a need for self-advocacy, such as finding information for themselves online, through community, or trusted advisors. Participant 16, a 27 year-old Latin-X PP  stated the following regarding Facebook groups: “When you receive that news, it’s shocking. Reading stories in the groups was most helpful.”  (3) Parents noted the value of racial, ethnic, and linguistic concordance in care. Participant 12, a 27 year old Black PP, reflects on disparities in care and in her own experiences: “I know for a fact that non-white women have different care whether it’s conscious or unconscious, and unfortunately pretty much all the providers there are White.” (4) Navigating healthcare policies alongside PGD. Many participants alluded to navigating abortion, health insurance, and immigration as a unique part of their PGD care. Participant 14, a 29 year old Black PP stated the following: “I wasn’t sure where I’d go with Roe v. Wade… I was stuck.”  For Spanish speaking participants, Theme 3 included a discussion of translation services and Theme 4 included discussion of healthcare costs, particularly for those that recently immigrated and were uninsured. Zero interviewees expressed concern regarding genetic privacy for the fetus, self, other family members, now or in the future. Mean EDS score in the cohort was 21.1 (SD 9.2) ; EDS scores were not associated with preferences for amniocentesis (r=0.09). 

 

Conclusion:
Black and Latin-X PPs’ reflections highlight the importance of good communication and follow up practices as an integral part of prenatal genetic diagnostic care. Our findings also elucidate the unique challenges racial minorities face when navigating reproductive genetic care, including insurance and healthcare policy issues, translation, and lack of representation in genetic healthcare. This data provides unique insights into ways to improve the quality of PGD care for these racial and ethnic groups.