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

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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, Moscow

Andrey 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-Petersburg

Elena 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, Moscow

Ilya 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, Moscow

Galina 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)

俄罗斯联邦, Moscow

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2. 图1 无创产前检测的不一致的结果（[33]）。NIPT - 无创产前检测；CNV - DNA片段拷贝数的变体；Tr21、18、 13、9、22，分别为21、18、13、9、22号染色体上的三体

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3. 图2 临床意义，确认的数据，筛查测试灵敏度Tr21，Tr18，Tr13-分别是21、18和13号染色体的三体性; FPR-假阳性结果

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4. 图3 2018年俄罗斯联邦的四个主体指定风险组中早期产前筛查时发现的染色体异常数目横坐标表示边界之间风险组的间隔。CA-染色体异常；Tr21，Tr18，Tr13-染色体21、18和13的三体性

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5. 图4 在产前早期筛查中使用非侵入性产前检测（NIPT）的可能的定额模型：a-在中风险组为1:101-1:500； b-在中风险组为1:101-1:1000

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6. 图5 无创产前检测技术染色体异常的定额产前筛查模型示意图。NIPT-无创产前检测；CTE-顶臀长度；PRP（CDM）-胎儿畸形（先天性畸形）；TVP-胎儿颈项透明层厚度；IPD-创伤性产前诊断；CA-染色体异常；MU-超声波检查

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