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

项目摘要/摘要 先天畸形影响3-5%的怀孕，但占新生儿死亡的30%。一个重要的 被确认为胎儿异常的孕妇中，没有接受指定产前诊断的比例， 这对于做出关于产妇、胎儿和新生儿护理的明智决定至关重要。这种模式是 主要见于黑人和拉丁-X孕妇，导致诊断延迟和新生儿病情恶化 这些组的结果。重要的是，关于影响同意的因素的数据有限。 在这些人群中进行基因诊断，这可能包括生活在种族和种族主义的经历。作为外显子和 基因组测序(ES/GS)已准备好应用于临床护理，了解原因 接受或拒绝诊断--排序的第一步--对于公正和公平至关重要 关心。此外，研究ES/GS对产妇健康的纵向影响的数据很少， 例如，基因数据对生育决定的权重，以及出生后的焦虑和抑郁。检视 随着更多技术的出现，这一领域对于知情咨询和非恶意至关重要。 家长奖的长期目标是提高胎儿大脑异常的产前诊断精度， 包括识别和表征大脑发育中的新候选基因。穿过 利用家长研究队列和我们机构正在进行的研究，这项管理的目标是 补充是确定影响黑人和女性产前诊断知情同意的因素 拉丁-X人群，并认识到ES/GS对母亲的影响不仅仅是寻求基因诊断。我们的 中心假设是，对上述问题的更好理解将产生患者的观点 以缩小差距、促进生殖正义和提供足够的 母性支持。具体地说，我们假设：1)种族主义的经历可能会导致知情人士的不平等 同意基因诊断，以及2)ES/GS的结果可能需要除了受影响的人之外的额外咨询 怀孕了。我们将通过验证性调查和半结构化访谈来检验这些假设。我们 提出以下具体目标：1)确定影响基因检测的因素 在黑人和拉丁裔母亲的产前超声上检测到异常；以及2)量化和限定 ES/GS的社会、心理和生殖影响。完成本报告中建议的研究 行政补充将：1)提高我们对如何在产前遗传护理中提供公平的认识； 2)作为未来咨询和外展干预调查的初步数据，目的是 减少产前和产后遗传护理方面的差距，这是一个研究不足的领域，对 NICHD的使命。

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.