Unmet Needs: Achieving Equity and Support for Parents Pursuing Prenatal Diagnosis in the Genomic Era

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PROJECT SUMMARY/ABSTRACT Congenital anomalies affect 3-5% of pregnancies, but account for 30% of neonatal deaths. A significant proportion of pregnant people in whom a fetal anomaly is identified do not receive indicated prenatal diagnosis, which is critical to making informed decisions about maternal, fetal, and neonatal care. This pattern is prominently seen among Black and Latin-X pregnant people, driving delays in diagnosis and worse neonatal outcomes in these groups. Importantly, there is limited data regarding the factors that influence consent to genetic diagnosis in these populations, which may include lived experience of race and racism. As exome and genome sequencing (ES/GS) become poised for implementation into clinical care, understanding reasons for accepting or declining diagnosis – the first step to sequencing – are critically important to just and equitable care. Additionally, there is a paucity of data examining the longitudinal impact of ES/GS on maternal health, such as the weight of genetic data on reproductive decisions, and postnatal anxiety and depression. Examining this area is critical to informed counseling and non-maleficence as additional technologies become available. The long-term goal of the parent award is to improve precision in prenatal diagnosis of fetal brain anomalies, including the identification and characterization of novel candidate genes in brain development. Through leveraging the parent study cohort and ongoing studies at our institution, the goal of this administrative supplement is to determine factors that influence informed consent to prenatal diagnosis among Black and Latin-X people and recognize the impact of ES/GS on mothers beyond seeking a genetic diagnosis. Our central hypothesis is that better understanding of the above issues will generate patient-perspectives to implement ES/GS in a way that reduces disparities, fosters reproductive justice, and provides adequate maternal support. Specifically, we hypothesize that: 1) experiences of racism may drive inequities in informed consent to genetic diagnosis, and 2) results from ES/GS may require additional counseling beyond the affected pregnancy. We will test these hypotheses through validated surveys and semi-structured interviews. We propose the following specific aims: 1) Determine factors that influence genetic testing when a congenital anomaly is detected on prenatal ultrasound in Black and Latin-X mothers; and 2) Quantify and qualify the social, psychological, and reproductive impact of ES/GS. Completion of the research proposed in this administrative supplement will: 1) advance our knowledge of how to provide equity in prenatal genetic care; and 2) serve as preliminary data for future investigations in counseling and outreach interventions aimed at reducing disparities in pre- and postnatal genetic care, an understudied area that is of strategic importance to the mission of the NICHD.