NIPT不偏爱,《自然》子刊说所有孕妇都能做
2017/02/06
近日,研究人员在《Genetics in Medicine 》杂志上表示,产科护理提供者可以给所有孕妇有效且适当地提供非侵入性的产前检测。基于cfDNA的无创产前筛查具有更高的吸收率、孕妇能理解其基本概念,因而无创产前基因检测能容易地纳入到常规的产科实践中。


近年来,无创产前基因检测(NIPT)的使用范围渐渐从高风险孕妇延伸至一般孕妇群体。近日,新英格兰医院的研究人员表明,产科护理提供者可以给所有孕妇有效且适当地提供非侵入性的产前检测。

相关结果以《The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population》为题发表在《Genetics in Medicine 》杂志上。这项研究旨在了解那些将无创产前基因检测纳入常规产前保健的女性对这种检测的认识和满意程度。

NIPT能容易地纳入到常规产科实践中

大约有2700名孕妇参与了此项研究。所有的孕妇中,有16名的21、18以及13三体检测结果为阳性,进一步检测后12名得到了确诊,另外4名的检测结果为假阳性。接受调查的每100名孕妇中,有99名能够理解无创产前基因检测可自主选择,96名孕妇的问题得到了解答,95名孕妇能够得到足够的信息。其中检测前的信息基本上都是由医师或助产护士提供。

最后,研究人员得出以下结论:基于cfDNA的无创产前筛查具有更高的吸收率、孕妇能理解其基本概念,因而无创产前基因检测能容易地纳入到常规的产科实践中。

该研究的引领者,Palomaki博士表示,政策制定者、专业机构以及保险机构可以根据该研究结果来决定如何以及向谁推荐无创产前基因检测。

NIPT的普及并不遥远

目前,各国都在积极推广NIPT。2016年11月,英国政府批准将21、18和13三体的无创产前筛查纳入到常规的产前筛查计划中,并计划在3年内全面推广NIPT,包括对人员的培训等。英国卫生部预计,NIPT将在2018年或2019年被纳入到英国国家卫生服务(NHS)体系中。

在国内,地方省政府发布的基因检测技术应用的支持政策中,均鼓励开展高龄产妇无创产前基因检测,并且关于将无创产前基因检测纳入医保的声音也越来越多。2016年1月份,深圳市卫计委率先发声建议将无创产前基因检测纳入医保;2017年1月,在广东省政协十一届五次会议上,省政协委员许四虎也建议将无创产前基因检测纳入广东省公共卫生项目中。

2016年11月,卫计委发布《关于规范有序开展孕妇外周血胎儿游离DNA产前筛查与诊断工作的通知》,废止此前无创产前筛查与诊断试点机构相关规定,正式取消无创产前筛查与诊断试点,这意味着原则上只要具备相关资质的医院或医学检验所都能开展无创DNA产前筛查与诊断,满足了广大孕妇对产前筛查与诊断分子遗传新技术服务的需求。

随着技术普及,借着政策东风,2017年无创产前基因检测将迎来全新的发展机遇。

参考资料:

Research supports expanded use of cell free DNA prenatal testing

The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population

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  • The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population

    Objective: To assess the clinical utility of cell-free DNA (cfDNA)-based screening for aneuploidies offered through primary obstetrical care providers to a general pregnancy population. Methods: Patient educational materials were developed and validated and providers were trained. Serum was collected for reflexive testing of cfDNA failures. Providers and patients were surveyed concerning knowledge, decision making, and satisfaction. Pregnancy outcome was determined by active or passive ascertainment. Results: Between September 2014 and July 2015, 72 providers screened 2,691 women. The five largest participating practices increased uptake by 8 to 40%. Among 2,681 reports, 16 women (0.6%) were screen-positive for trisomy 21, 18, or 13; all saw genetic professionals. Twelve were confirmed (positive predictive value (PPV), 75%; 95% CI, 48–93%) and four were false-positives (0.15%). Of 150 failures (5.6%), 79% had a negative serum or subsequent cfDNA test; no aneuploidies were identified. Of 100 women surveyed, 99 understood that testing was optional, 96 had their questions answered, and 95 received sufficient information. Pretest information was provided by the physician/certified nurse midwife (55) or office nurse/educator (40); none was provided by genetic professionals. Conclusion: This first clinical utility study of cfDNA screening found higher uptake rates, patient understanding of basic concepts, and easy incorporation into routine obstetrical practices. There were no reported cases of aneuploidy among cfDNA test failures.

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