{"title":"Healthcare professionals' perspectives on and experiences with non-invasive prenatal testing: a systematic review.","authors":"Chanelle Warton, Danya F Vears","doi":"10.1007/s00439-025-02736-y","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>The increasing integration of non-invasive prenatal testing (NIPT) into antenatal practice and public healthcare systems globally raises both significant challenges in standardising service delivery and important ethical questions around routinisation and reproductive autonomy. This systematic review aims to synthesise existing primary empirical research on healthcare professionals' views on and experiences with NIPT.</p><p><strong>Methods: </strong>A systematic search was conducted across four major databases in September 2023 and repeated in December 2024. Studies that reported findings from primary empirical research, including quantitative, qualitative and mixed methods research were included.</p><p><strong>Results: </strong>Searches returned 65 eligible articles, spanning 38 countries and 1 special administrative region and at least 12 professions. Views on who NIPT should have access to and which conditions should be screened for were influenced by perceived clinical utility. While healthcare professionals acknowledged NIPT as beneficial for supporting reproductive autonomy, concerns were raised about the amount and complexity of information to be conveyed during prenatal counseling and potential pressure to test. Cost was also identified as a significant barrier. Challenges reported during post-test counseling included communicating test failures and gaining information from laboratories. Views on the implications of NIPT for decision-making around abortion and for people with disabilities varied.</p><p><strong>Conclusions: </strong>Healthcare professionals play a critical role in facilitating the access to and decisions by pregnant people around prenatal genetic testing. Addressing barriers in clinical practice and increasing consistency across and access to clinical guidelines and education resources may support healthcare professionals in supporting reproductive autonomy.</p>","PeriodicalId":13175,"journal":{"name":"Human Genetics","volume":"144 4","pages":"343-374"},"PeriodicalIF":3.8000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12003526/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human Genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1007/s00439-025-02736-y","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/4/9 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: The increasing integration of non-invasive prenatal testing (NIPT) into antenatal practice and public healthcare systems globally raises both significant challenges in standardising service delivery and important ethical questions around routinisation and reproductive autonomy. This systematic review aims to synthesise existing primary empirical research on healthcare professionals' views on and experiences with NIPT.
Methods: A systematic search was conducted across four major databases in September 2023 and repeated in December 2024. Studies that reported findings from primary empirical research, including quantitative, qualitative and mixed methods research were included.
Results: Searches returned 65 eligible articles, spanning 38 countries and 1 special administrative region and at least 12 professions. Views on who NIPT should have access to and which conditions should be screened for were influenced by perceived clinical utility. While healthcare professionals acknowledged NIPT as beneficial for supporting reproductive autonomy, concerns were raised about the amount and complexity of information to be conveyed during prenatal counseling and potential pressure to test. Cost was also identified as a significant barrier. Challenges reported during post-test counseling included communicating test failures and gaining information from laboratories. Views on the implications of NIPT for decision-making around abortion and for people with disabilities varied.
Conclusions: Healthcare professionals play a critical role in facilitating the access to and decisions by pregnant people around prenatal genetic testing. Addressing barriers in clinical practice and increasing consistency across and access to clinical guidelines and education resources may support healthcare professionals in supporting reproductive autonomy.
期刊介绍：
Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmorphology, ELSI (ethical, legal and social issues), Evolutionary genetics, Gene expression, Gene structure and organization, Genetics of complex diseases and epistatic interactions, Genetic epidemiology, Genome biology, Genome structure and organization, Genotype-phenotype relationships, Human Genomics, Immunogenetics and genomics, Linkage analysis and genetic mapping, Methods in Statistical Genetics, Molecular diagnostics, Mutation detection and analysis, Neurogenetics, Physical mapping and Population Genetics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology.
Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described, and papers that report meta-analyses of previously published datasets will normally not be accepted.
The Journal typically will not consider for publication manuscripts that report merely the isolation, map position, structure, and tissue expression profile of a gene of unknown function unless the gene is of particular interest or is a candidate gene involved in a human trait or disorder.
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