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在新西兰奥克兰,将非侵入性产前检测纳入到唐氏综合征和其他疾病的公共资助产前筛查服务中。

Implementing non-invasive prenatal testing into publicly funded antenatal screening services for Down syndrome and other conditions in Aotearoa New Zealand.

机构信息

Women's Health Research Centre, Department of Obstetrics and Gynaecology, University of Otago, Wellington, New Zealand.

Katoa Ltd, Auckland, New Zealand.

出版信息

BMC Pregnancy Childbirth. 2017 Oct 4;17(1):344. doi: 10.1186/s12884-017-1535-x.

Abstract

BACKGROUND

Non-invasive prenatal testing (NIPT) is a relatively new screen for congenital conditions - specifically, common fetal aneuploidies including Down Syndrome. The test is based on isolating freely circulating fragments of fetal-placental DNA that is present in the mother's blood. NIPT has a superior clinical performance compared to current screening, and has been available privately in Aotearoa New Zealand for the last 4 years.

MAIN ISSUE

The proposed implementation of NIPT as a publicly funded service may widen the inequity in access to optional antenatal screening that already exists in this country.

CONCLUSION

This paper discusses precautions that can be taken at the health system, organisation, and personnel levels to ensure that access to NIPT is equitable, that services are culturally responsive, and women's informed choice is promoted and protected. The adoption of NIPT into publicly funded services is an example of how genetic screening is becoming mainstreamed into health services; as such our approach may also have relevance around the introduction of other genetic and genomic screening initiatives.

摘要

背景

非侵入性产前检测(NIPT)是一种针对先天疾病的相对较新的筛查方法 - 具体来说,是指包括唐氏综合征在内的常见胎儿非整倍体。该检测基于分离存在于母亲血液中的胎儿胎盘游离循环片段的 DNA。与当前的筛查相比,NIPT 的临床性能更优,在过去的 4 年中,NIPT 已在新西兰作为私人服务提供。

主要问题

拟议将 NIPT 作为公共资助服务实施,可能会扩大该国已经存在的选择性产前筛查机会不平等的问题。

结论

本文讨论了可以在卫生系统、组织和人员层面采取的预防措施,以确保 NIPT 的可及性公平、服务具有文化响应性,并促进和保护妇女的知情选择。将 NIPT 纳入公共资助服务是遗传筛查被纳入卫生服务主流的一个例子;因此,我们的方法也可能与其他遗传和基因组筛查计划的引入有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b60/5628435/9c3bce9ef569/12884_2017_1535_Fig1_HTML.jpg

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