对母亲血液中的胎儿进行无创性产前DNA检查的目前意义及其在俄罗斯孕妇大规模筛查系统中的应用前景
- 作者: Kalashnikova E.A.1,2, Glotov A.S.3, Andreyeva E.N.1,2, Barkov I.Y.4, Bobrovnik G.Y.5,2, Dubrovina E.V.5,2, Zhuchenko L.A.1,2
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隶属关系:
- Russian Medical Academy of Continuous Professional Education
- Fetal Medicine Association “National Society of Prenatal Medicine”
- The Research Institute of Obstetrics, Gynecology, and Reproductology named after D.O. Ott
- National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
- The Family Planning and Reproduction Center of the Moscow City Health Department
- 期: 卷 70, 编号 1 (2021)
- 页面: 19-50
- 栏目: Current public health problems
- URL: https://journal-vniispk.ru/jowd/article/view/56573
- DOI: https://doi.org/10.17816/JOWD56573
- ID: 56573
如何引用文章
详细
该综述分析了基于母亲血液中胎儿细胞外DNA的染色体异常的无创产前筛查测试在世界不同国家的应用。讨论了该方法的诊断能力,其局限性,应用模型以及与使用相关的道德问题。提供了不一致结果的数据。介绍了胎儿细胞外DNA分析的全基因组变体的优势以及其在大规模筛选中的应用相关的问题。根据2019年在俄罗斯联邦四个主题进行的大规模联合产前筛查的结果,提出了一种根据最常见的三体(21、18和13号染色体)将该方法引入俄罗斯产前诊断系统的限定模型,作为在中度危险群体(临界值从1:100至1:500或从1:100至1:1000)的附加筛查。该群体是在各主题根据早期产前筛查的结果形成的。制定了在俄罗斯联邦主题中引入限定模型的基本要求。
作者简介
Elena Kalashnikova
Russian Medical Academy of Continuous Professional Education; Fetal Medicine Association “National Society of Prenatal Medicine”
编辑信件的主要联系方式.
Email: elenakalash@yandex.ru
ORCID iD: 0000-0002-7861-6273
MD, PhD, Assistant Professor
俄罗斯联邦, MoscowAndrey Glotov
The Research Institute of Obstetrics, Gynecology, and Reproductology named after D.O. Ott
Email: anglotov@mail.ru
ORCID iD: 0000-0002-7465-4504
PhD, DSci (Biology)
俄罗斯联邦, Saint-PetersburgElena Andreyeva
Russian Medical Academy of Continuous Professional Education; Fetal Medicine Association “National Society of Prenatal Medicine”
Email: e.n.andreeva@mail.ru
ORCID iD: 0000-0002-5649-0534
MD, PhD, Assistant Professor
俄罗斯联邦, MoscowIlya Barkov
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov
Email: i@barkov.ru
ORCID iD: 0000-0001-6297-2073
MD, PhD
俄罗斯联邦, MoscowGalina Bobrovnik
The Family Planning and Reproduction Center of the Moscow City Health Department; Fetal Medicine Association “National Society of Prenatal Medicine”
Email: bobrovnik852@yandex.ru
俄罗斯联邦, Moscow
Elena Dubrovina
The Family Planning and Reproduction Center of the Moscow City Health Department; Fetal Medicine Association “National Society of Prenatal Medicine”
Email: e.v.dubrovina@yandex.ru
ORCID iD: 0000-0002-2179-639X
俄罗斯联邦, Moscow
Lyudmila Zhuchenko
Russian Medical Academy of Continuous Professional Education; Fetal Medicine Association “National Society of Prenatal Medicine”
Email: mrrcm@mail.ru
ORCID iD: 0000-0003-4918-2995
MD, PhD, DSci (Medicine)
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