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人们想了解关于无创产前检测(NIPT)的哪些信息?对发送至国家无创产前检测信息网站的问题进行内容分析。

What do people want to know about NIPT? Content analysis of questions emailed to national NIPT information websites.

作者信息

Tamminga Saskia, van Dussen Laura, Verweij E J Joanne, de Boer Marjon A, Cornel Martina C, Henneman Lidewij

机构信息

Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands.

Amsterdam Public Health Research Institute, VU University Medical Center, Amsterdam, the Netherlands.

出版信息

Prenat Diagn. 2017 Apr;37(4):412-415. doi: 10.1002/pd.5011. Epub 2017 Feb 28.

DOI:10.1002/pd.5011
PMID:28124373
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5413829/
Abstract

What's already known about this topic? Several countries, including the Netherlands, have implemented non‐invasive prenatal testing (NIPT) in their national prenatal screening program. Access to relevant online health information is important as it increases informed decision making. What does this study add? Visitors of national NIPT websites mostly request more information about testing beyond the currently available NIPT: a broader range of disorders (such as monogenic disorders) and increasing target group eligibility (such as low‐risk or twin pregnancies). © 2017 The Authors. published by John Wiley & Sons, Ltd.

摘要

关于这个主题已经了解了什么?包括荷兰在内的几个国家已在其国家产前筛查计划中实施了无创产前检测(NIPT)。获取相关在线健康信息很重要,因为它能增强决策的科学性。这项研究增加了什么内容?国家NIPT网站的访问者大多要求获取目前可用NIPT之外更多关于检测的信息:更广泛的疾病种类(如单基因疾病)以及扩大目标群体范围(如低风险或双胎妊娠)。© 2017作者。由约翰·威利父子有限公司出版。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c974/5413829/386da47071b5/PD-37-412-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c974/5413829/386da47071b5/PD-37-412-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c974/5413829/386da47071b5/PD-37-412-g001.jpg

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本文引用的文献

1
Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact.荷兰实验室对无创产前检测进行评估的试验。第一部分——临床影响。
Prenat Diagn. 2016 Dec;36(12):1083-1090. doi: 10.1002/pd.4945. Epub 2016 Nov 15.
2
Cell-Free Fetal DNA Testing for Prenatal Diagnosis.游离胎儿 DNA 检测用于产前诊断。
Adv Clin Chem. 2016;76:1-35. doi: 10.1016/bs.acc.2016.05.004. Epub 2016 Jun 28.
3
Health-Related Internet Use by Informal Caregivers of Children and Adolescents: An Integrative Literature Review.儿童和青少年非正式照料者与健康相关的互联网使用:一项综合文献综述。
通过医院网站面向消费者的囊性纤维化携带者筛查:一项为期6年的评估。
J Community Genet. 2019 Apr;10(2):249-257. doi: 10.1007/s12687-018-0388-y. Epub 2018 Sep 18.
4
Implementing non-invasive prenatal testing for aneuploidy in a national healthcare system: global challenges and national solutions.在国家医疗体系中实施非侵入性产前基因检测以筛查染色体非整倍体:全球挑战与国家解决方案
BMC Health Serv Res. 2017 Sep 19;17(1):670. doi: 10.1186/s12913-017-2618-0.
J Med Internet Res. 2016 Mar 3;18(3):e57. doi: 10.2196/jmir.4124.
4
Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis.使用游离DNA进行无创产前检测以检测唐氏、爱德华兹和帕陶氏综合征的准确性:一项系统评价和荟萃分析。
BMJ Open. 2016 Jan 18;6(1):e010002. doi: 10.1136/bmjopen-2015-010002.
5
Current controversies in prenatal diagnosis 1: should NIPT routinely include microdeletions/microduplications?产前诊断中的当前争议1:无创产前检测(NIPT)是否应常规包含微缺失/微重复检测?
Prenat Diagn. 2016 Jan;36(1):10-4. doi: 10.1002/pd.4710. Epub 2015 Nov 19.
6
Recommended pre-test counseling points for noninvasive prenatal testing using cell-free DNA: a 2015 perspective.基于2015年的视角:使用游离DNA进行无创产前检测的推荐检测前咨询要点
Prenat Diagn. 2015 Oct;35(10):968-71. doi: 10.1002/pd.4666. Epub 2015 Sep 3.
7
Non-invasive prenatal testing: ethics and policy considerations.无创产前检测:伦理与政策考量
J Obstet Gynaecol Can. 2014 Jun;36(6):515-526. doi: 10.1016/S1701-2163(15)30568-5.
8
The scope of prenatal diagnosis for women at increased risk for aneuploidies: views and preferences of professionals and potential users.非整倍体风险增加女性的产前诊断范围:专业人员和潜在用户的观点与偏好
J Community Genet. 2013 Jan;4(1):125-35. doi: 10.1007/s12687-012-0126-9. Epub 2012 Nov 9.
9
Women's and health professionals' preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests.妇女和卫生专业人员对唐氏综合征产前检测的偏好:一项离散选择实验,用于比较非侵入性产前诊断与当前的侵入性检测。
Genet Med. 2012 Nov;14(11):905-13. doi: 10.1038/gim.2012.68. Epub 2012 Aug 30.