Genome Sequencing for All Pregnant Persons: Navigating the Next Frontier in Prenatal Diagnosis Through Patient Reflections.

IF 2.7 2区医学 Q2 GENETICS & HEREDITY

Prenatal Diagnosis Pub Date : 2025-09-06 DOI:10.1002/pd.6884

Kristen E Kelly, Stephanie Galloway, Alexandra Demers, Amanda L Bergner, Jessica L Giordano

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引用次数: 0

Abstract

Objective: This study aimed to explore participant reflections after receipt of prenatal genome sequencing (GS) results in the absence of fetal anomalies.

Methods: Participants invited to complete a semi-structured interview consented to future research, were English speaking, and were between 30 days and 1 year since the conclusion of their sequenced pregnancy. A total of 18 interviews were conducted with 21 participants (3 couples interviewed concurrently) representing 15 unique pregnancies (81% term deliveries, 14% terminated pregnancies, and 5% preterm delivery). Interviews were transcribed, coded, and analyzed using a constructivist grounded theory approach.

Results: Participants had various motivations for pursuing GS, yet all wanted maximal information. Almost all participants with positive results had downstream implications, including termination, cascade testing, referral to specialists, and changes in pregnancy management and neonatal care. Negative results provided reassurance for the pregnancy and child's early development. If available, most participants would pursue GS in a future pregnancy; however, a few raised concerns about cost and accessibility.

Conclusion: Understanding the perspectives and needs of pregnant patients and their partners will help inform the implementation of GS as a first-tier prenatal diagnostic test.

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基因组测序为所有孕妇：导航下一个前沿产前诊断通过患者的反思。

目的：本研究旨在探讨参与者在没有胎儿异常的情况下收到产前基因组测序（GS）结果后的反应。方法：参与者被邀请完成半结构化访谈，同意未来的研究，说英语，在他们的顺序妊娠结束后30天到1年之间。共对21名参与者（3对夫妇同时接受采访）进行了18次访谈，涉及15例独特妊娠（81%足月分娩，14%终止妊娠，5%早产）。访谈被转录、编码，并使用建构主义理论方法进行分析。结果：被试有不同的动机，但都希望获得最大的信息。几乎所有阳性结果的参与者都有下游影响，包括终止妊娠、级联检测、转诊给专家、妊娠管理和新生儿护理的改变。阴性结果为怀孕和儿童早期发育提供了保证。如果可能的话，大多数参与者会在未来的怀孕中进行GS；然而，一些人对成本和可及性表示担忧。结论：了解孕妇及其伴侣的观点和需求，有助于GS作为一线产前诊断检查的实施。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Prenatal Diagnosis 医学-妇产科学

CiteScore

5.80

自引率

13.30%

发文量

204

审稿时长

2 months

期刊介绍： Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling