无创产前检测（NIPT）：可靠性、挑战与未来方向。
Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions.
作者信息
Jayashankar Siva Shantini, Nasaruddin Muhammad Luqman, Hassan Muhammad Faiz, Dasrilsyah Rima Anggrena, Shafiee Mohamad Nasir, Ismail Noor Akmal Shareela, Alias Ekram
机构信息
Department of Biochemistry, Faculty of Medicine, Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, Bandar Tun Razak, Kuala Lumpur 56000, Malaysia.
Department of Surgery, Hospital Batu Pahat, Batu Pahat 83000, Malaysia.
出版信息
Diagnostics (Basel). 2023 Aug 2;13(15):2570. doi: 10.3390/diagnostics13152570.
Abstract
Non-invasive prenatal testing was first discovered in 1988; it was primarily thought to be able to detect common aneuploidies, such as Patau syndrome (T13), Edward Syndrome (T18), and Down syndrome (T21). It comprises a simple technique involving the analysis of cell-free foetal DNA (cffDNA) obtained through maternal serum, using advances in next-generation sequencing. NIPT has shown promise as a simple and low-risk screening test, leading various governments and private organizations worldwide to dedicate significant resources towards its integration into national healthcare initiatives as well as the formation of consortia and research studies aimed at standardizing its implementation. This article aims to review the reliability of NIPT while discussing the current challenges prevalent among different communities worldwide.
摘要
无创产前检测于1988年首次被发现；最初人们主要认为它能够检测常见的非整倍体，如帕陶综合征（T13）、爱德华兹综合征（T18）和唐氏综合征（T21）。它包括一项简单的技术，即利用下一代测序技术的进展，分析通过母体血清获得的游离胎儿DNA（cffDNA）。无创产前检测已显示出作为一种简单且低风险筛查测试的前景，促使全球各国政府和私人组织投入大量资源，将其纳入国家医疗保健计划，并成立联盟和开展研究，旨在规范其实施。本文旨在回顾无创产前检测的可靠性，同时讨论全球不同群体中普遍存在的当前挑战。
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