基于细胞的无创性产前检测 (cbNIPT)——当前发展与未来展望的综述。
Cell-based Noninvasive Prenatal Testing (cbNIPT)-A Review on the Current Developments and Future Prospects.
机构信息
Department of Obstetrics and Gynecology.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
出版信息
Clin Obstet Gynecol. 2023 Sep 1;66(3):636-648. doi: 10.1097/GRF.0000000000000798. Epub 2023 Jul 17.
Abstract
Considering the diagnostic limitations of cfDNA-based noninvasive prenatal testing (NIPT), scientists have long been interested in isolating and analyzing rare intact fetal and trophoblast cells from maternal blood or endocervical samples to diagnose fetal genetic conditions. These cells may be scarce and difficult to isolate, but they are a direct source of pure fetal genetic material. In this review, we summarize the history of cell-based NIPT, present an updated review on its current developments, evaluate its genetic diagnostic potential, and discuss its future prospects for clinical use.
摘要
考虑到基于 cfDNA 的无创产前检测 (NIPT) 的诊断局限性，科学家们一直有兴趣从母体血液或宫颈内样本中分离和分析罕见的完整胎儿和滋养层细胞，以诊断胎儿遗传状况。这些细胞可能很少且难以分离，但它们是纯净胎儿遗传物质的直接来源。在这篇综述中，我们总结了基于细胞的 NIPT 的历史，介绍了其当前发展的最新综述，评估了其遗传诊断潜力，并讨论了其未来在临床应用中的前景。
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