Patient Perceptions on the Advancement of Noninvasive Prenatal Testing for Sickle Cell Disease among Black Women in the United States

Abstract

Background

Noninvasive prenatal testing (NIPT) designed to screen for fetal genetic conditions, is increasingly being implemented as a part of routine prenatal care screening in the United States (US). However, these advances in reproductive genetic technology necessitate empirical research on the ethical and social implications of NIPT among populations underrepresented in genetic research, particularly Black women with sickle cell disease (SCD).

Methods

Forty (N = 40) semi-structured interviews were conducted virtually with Black women in the US (19 participants with SCD; 21 participants without SCD) from June 2021 to January 2022. We employed a qualitative approach to examine the study participants’ perceptions of the potential advancement of NIPT for screening SCD in the fetus. Data were analyzed using NVivo 12 qualitative software.

Results

The themes revealed the complexities involving the intersectional lived experiences of SCD, prenatal care, lack of synergy among health providers, and NIPT decision-making. The results further revealed that even when Black women have shared commonalities in their lived experiences while navigating SCD and motherhood, their perceptions of NIPT screening technologies are divergent.

Conclusion

Expanding the ethical discourse on the social implications of NIPT is critical to fully elucidate how Black women perceive NIPT’s utility, particularly as NIPT advances to screen for SCD in the fetus. Neglecting to include Black women with genetic conditions in empirical studies on NIPT may contribute to ongoing health inequities and limit and constrain reproductive choices among Black women with and without SCD.

Keywords:

• Noninvasive prenatal testing
• Black women
• sickle cell disease
• reproductive health equity

Acknowledgments

The authors would like to acknowledge the study participants who shared their lived experiences and stories during data collection. We also thank our internal laboratory research team, which worked selflessly to collect and analyze qualitative data during the COVID-19 pandemic. We would also like to acknowledge our external clinical consultants who provided feedback on our interview guide and the clinical vignette. We are truly grateful for the opportunity to make this contribution to understand the critical intersections of sickle cell disease and prenatal care for Black women with and without genetic conditions in the United States.

Disclosure statement

The authors report no conflict of interest.

Additional information

Funding

This work was funded in part by the Intramural Research Program, National Human Genome Research Institute of the National Institutes of Health (Z1AHG200394 Bonham). This work was also supported in part by the National Human Genome Research Institute of the National Institutes of Health under award number K01HG011495-01 and the Greenwall Faculty Scholars Program in Bioethics awarded to Faith E. Fletcher. The perspectives expressed in this article are those of the authors. No statement in this article should be construed as an official position of the National Human Genome Research Institute, National Institute of Health, or Department of Health and Human Services.