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本文引用的文献

1
Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities.亚染色体异常无创产前检测的临床应用有限
Am J Hum Genet. 2016 Jan 7;98(1):34-44. doi: 10.1016/j.ajhg.2015.11.016. Epub 2015 Dec 17.
2
Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals.唐氏综合征产前检测的偏好:孕妇与健康专业人员观点的国际比较
Eur J Hum Genet. 2016 Jul;24(7):968-75. doi: 10.1038/ejhg.2015.249. Epub 2015 Nov 18.
3
Knowledge and future preference of Chinese women in a major public hospital in Hong Kong after undergoing non-invasive prenatal testing for positive aneuploidy screening: a questionnaire survey.香港一家大型公立医院的中国女性在接受非侵入性产前检测且结果显示非整倍体筛查呈阳性后的知识与未来偏好:一项问卷调查
BMC Pregnancy Childbirth. 2015 Sep 2;15:199. doi: 10.1186/s12884-015-0636-7.
4
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.
5
Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies.非侵入性产前检测与隐匿性母体恶性肿瘤的意外发现。
JAMA. 2015 Jul 14;314(2):162-9. doi: 10.1001/jama.2015.7120.
6
Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing.通过全基因组无创产前检测检测到的亚染色体事件的临床结局。
Prenat Diagn. 2015 Oct;35(10):999-1004. doi: 10.1002/pd.4640. Epub 2015 Jul 27.
7
Global perspectives on clinical adoption of NIPT.无创产前检测(NIPT)临床应用的全球视角。
Prenat Diagn. 2015 Oct;35(10):959-67. doi: 10.1002/pd.4637. Epub 2015 Sep 25.
8
Diagnostic value of ultrasonographic combining biochemical markers for Down syndrome screening in first trimester: a meta-analysis.孕早期超声联合生化标志物对唐氏综合征筛查的诊断价值:一项荟萃分析。
Prenat Diagn. 2015 Sep;35(9):879-87. doi: 10.1002/pd.4626. Epub 2015 Jun 28.
9
Knowledge, understanding, and uptake of noninvasive prenatal testing among Latina women.拉丁裔女性对无创产前检测的认知、理解及接受情况
Prenat Diagn. 2015 Aug;35(8):748-53. doi: 10.1002/pd.4599. Epub 2015 May 21.
10
Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma.通过对母血中循环游离DNA进行测序检测胎儿亚染色体异常。
Clin Chem. 2015 Apr;61(4):608-16. doi: 10.1373/clinchem.2014.233312. Epub 2015 Feb 20.

评估新加坡女性和医疗保健专业人员对实施唐氏综合征无创产前检测的偏好。

Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome.

作者信息

Barrett Angela Natalie, Advani Henna Vishal, Chitty Lyn S, Su Lin Lin, Biswas Arijit, Tan Wei Ching, Hill Melissa, Choolani Mahesh

机构信息

Department of Obstetrics and Gynaecology, National University of Singapore, Singapore.

Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, England, United Kingdom.

出版信息

Singapore Med J. 2017 Jun;58(6):298-310. doi: 10.11622/smedj.2016114. Epub 2016 Jun 29.

DOI:10.11622/smedj.2016114
PMID:27357315
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5474525/
Abstract

INTRODUCTION

Invasive prenatal diagnosis (IPD) has long been used to prenatally diagnose Down syndrome (DS), but it is associated with a small risk of miscarriage. Noninvasive prenatal testing (NIPT) is a highly sensitive screening test using cell-free DNA in maternal blood for detection of DS without the risk of miscarriage, but it confers a small risk of false-positive and false-negative results. The implementation of these procedures into clinical practice requires an understanding of stakeholder preferences.

METHODS

A total of 69 health professionals (HPs) and 301 women took part in a discrete choice experiment (DCE) in which preferences for four prenatal test attributes - accuracy, time of results, risk of miscarriage and amount of information provided - were assessed. Conditional logit regression was used to analyse the data. Data on demographics and ranked preferences for test attributes was collected, and a direct choice question regarding NIPT, IPD or neither test was posed to participants.

RESULTS

The women showed a preference for test safety, whereas HPs prioritised test accuracy above all other attributes. When offered a direct choice of NIPT, IPD or neither test, women aged 35 years and older, those with previous miscarriage or who knew a child with DS were more likely to choose NIPT. Chinese women preferred NIPT, whereas Indian women preferred IPD.

CONCLUSION

Our data highlights the need for patient-specific counselling, taking into account previous experiences and cultural factors. Since women and HPs prioritise different test attributes, it is essential that HPs recognise these differences in order to provide non-biased counselling.

摘要

引言

侵入性产前诊断(IPD)长期以来一直用于产前诊断唐氏综合征(DS),但它与流产的小风险相关。无创产前检测(NIPT)是一种高度敏感的筛查测试,使用母血中的游离DNA检测DS,没有流产风险,但它有小的假阳性和假阴性结果风险。将这些程序应用于临床实践需要了解利益相关者的偏好。

方法

共有69名卫生专业人员(HPs)和301名女性参与了一项离散选择实验(DCE),其中评估了对四种产前检测属性——准确性、结果时间、流产风险和提供的信息量——的偏好。使用条件logit回归分析数据。收集了人口统计学数据和对检测属性的排序偏好,并向参与者提出了一个关于NIPT、IPD或两种检测都不选的直接选择问题。

结果

女性表现出对检测安全性的偏好,而卫生专业人员将检测准确性置于所有其他属性之上。当提供NIPT、IPD或两种检测都不选的直接选择时,35岁及以上的女性、有过流产史或认识患有DS儿童的女性更有可能选择NIPT。中国女性更喜欢NIPT,而印度女性更喜欢IPD。

结论

我们的数据强调了根据患者具体情况进行咨询的必要性,要考虑到既往经历和文化因素。由于女性和卫生专业人员优先考虑不同的检测属性,卫生专业人员认识到这些差异以提供无偏见的咨询至关重要。