基因测序在塑造胎儿治疗中的扩展作用:临床和伦理考虑。

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY
Prenatal Diagnosis Pub Date : 2025-09-19 DOI:10.1002/pd.6890
Matthew A Shear, Beltran Borges, Billie R Lianoglou, Tony Lum, Emma Canepa, Jennifer L Cohen, Julia E H Brown, Akos Herzeg
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引用次数: 0

摘要

子宫内干预在解决胎儿发育过程中的遗传和解剖条件方面具有变革性。下一代测序使早期基因检测成为可能,通过支持风险分层,精确和及时的诊断,在产前决策中发挥关键作用,直接告知胎儿手术和分子治疗的资格。通过指导产前干预,或选择可能受益于产后准备的病例(当早期产后治疗改变结果时),以及告知咨询(当它显著影响怀孕决策时)和生殖计划,早期诊断有利于产前和产后护理。将人工智能整合到产前护理中,有望提供端到端的解决方案,简化诊断、咨询和获得标准和实验性子宫干预。然而,重大的伦理和社会挑战仍然存在,包括获得检测和护理的公平性、偶然发现、不确定意义的变异、不完全外显率和罕见变异和疾病的不确定表型预测。这些复杂性提出了有关生殖自主和正义以及负责任地使用新兴技术的重要问题。本综述强调早期基因检测和子宫内干预之间的密切相互作用,同时强调在产前基因组研究和护理中需要公平、精确和社区知情的实践。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations.

In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision-making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and molecular therapies. Early diagnosis benefits both prenatal and postnatal care by guiding prenatal interventions, or selecting cases that might benefit from postnatal preparedness (when early postnatal treatment alters outcomes), and informing counseling (when it significantly influences pregnancy decision-making) and reproductive planning. The integration of artificial intelligence into prenatal care holds the promise of end-to-end solutions that streamline diagnosis, counseling, and access to both standard and experimental in utero interventions. However, significant ethical and social challenges remain, including equity in access to testing and care, incidental findings, variants of uncertain significance, incomplete penetrance and uncertain phenotype prediction of rare variants and disorders. These complexities raise important questions about reproductive autonomy and justice and responsible use of emerging technologies. This review emphasizes the intimate interplay between early genetic testing and in utero interventions, while highlighting the need for equitable, precise, and community-informed practices in prenatal genomic research and care.

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来源期刊
Prenatal Diagnosis
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
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