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

> **NIH NIH R01** · UNIV OF NORTH CAROLINA CHAPEL HILL · 2022 · $155,500

## Abstract

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.

## Key facts

- **NIH application ID:** 10593733
- **Project number:** 3R01HD105868-02S1
- **Recipient organization:** UNIV OF NORTH CAROLINA CHAPEL HILL
- **Principal Investigator:** Neeta L Vora
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $155,500
- **Award type:** 3
- **Project period:** 2021-08-12 → 2026-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10593733

## Citation

> US National Institutes of Health, RePORTER application 10593733, Unmet Needs: Achieving Equity and Support for Parents Pursuing Prenatal Diagnosis in the Genomic Era (3R01HD105868-02S1). Retrieved via AI Analytics 2026-05-27 from https://api.ai-analytics.org/grant/nih/10593733. Licensed CC0.

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