Blazing the Trail of Non-Invasive Prenatal Screening Expanded Use: Healthcare Providers' Perspectives.

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY Prenatal Diagnosis Pub Date : 2025-02-01 Epub Date: 2025-01-06 DOI:10.1002/pd.6738
Tierry M Laforce, Anne-Marie Laberge, Marie-Françoise Malo, Vardit Ravitsky
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引用次数: 0

Abstract

Objective: Advancements in non-invasive prenatal screening (NIPS) could significantly alter prenatal screening by expanding the range of genetic conditions screened. This study aims to explore the perspectives of healthcare professionals (HCP) on the expanded use of NIPS and explore specifications for the inclusion of genetic conditions.

Method: Semi-structured interviews were conducted with Canadian HCPs who counsel pregnant individuals about NIPS. The findings were organized around the four ethical pillars of Kater-Kuiper's framework: proportionality (benefits and harms), aim of screening, justice, and societal aspects.

Results: Participants chose to assess the proportionality of NIPS using general terms to describe the additional conditions rather than discussing specific conditions to add. They emphasized the importance of clinical validity as crucial for expanding NIPS and ensuring its utility. Participants believed that the aim of NIPS is to enhance reproductive autonomy, and therefore that screening for late-onset conditions could create ethical tensions between parents and the prospective children. Participants also worried that expanded use of NIPS could impact the quality of counselling provided by HCPs and affect autonomy. Justice considerations include the allocation of resources in prenatal care instead of other areas of healthcare. Societal aspects highlighted the different definitions HCPs used to describe 'life-limiting conditions' that could severely affect the future child's health.

Conclusion: With expanded use of NIPS, clinical validity will vary for each screened condition. Specificity for each condition will influence the quality of consent. HCP estimates that clinical validity, clinical utility, availability of counselling, availability of resources, and societal impacts should be considered when adding genetic conditions to NIPS.

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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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