Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing

IF 1.3 4区 医学 Q3 PEDIATRICS
Dolat Singh Shekhawat, Charu Sharma, Kuldeep Singh, Pratibha Singh, Abhishek Bhardwaj, Payal Patwa
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引用次数: 1

Abstract

Maternal-fetal medicine (FM) is currently a highly demanding branch and is gaining importance as increasing number of genetic disorders rise in incidence. Prenatal testing helps to detect such abnormalities that could affect the health status of the developing fetus like birth defects or genetic disorders. Considering the rising trend of genetic disorders, there is a need for a highly sensitive way of noninvasive prenatal testing (NIPT) that may reduce the incidence of unnecessary invasive procedures and iatrogenic fetal loss. The concept of NIPT for screening of genetic disorders is continuously evolving over the last two decades and multiple techniques have come up to utilize this in the field of FM. The crucial factor which decides the accuracy of NIPS is cell free fetal DNA (cffDNA) that is present in extremely low fraction (10%–15%) in the maternal plasma. Among the available methods, the next generation sequencing (NGS) is considered as the gold standard. However, the higher cost diminishes its utility in low-resource settings. Droplet digital Polymerase chain reaction (ddPCR), a type of digital PCR is a novel technique that is frugal, equally sensitive, less labor intensive, less time-consuming and plain algorithm dependent method for detecting cffDNA fraction. Considering these impressive attributes of ddPCR, we decided to critically review the existing literature on ddPCR for NIPT whilst highlighting the clinical utility, challenges and its advantages over NGS.

微滴数字聚合酶链反应在无创产前检测中的应用评价
母胎医学(FM)目前是一个要求很高的分支,随着越来越多的遗传疾病的发病率上升,它正变得越来越重要。产前检查有助于发现可能影响发育中的胎儿健康状况的异常情况,如出生缺陷或遗传疾病。考虑到遗传疾病的上升趋势,需要一种高灵敏度的无创产前检查(NIPT)方法,以减少不必要的侵入性手术和医源性胎儿丢失的发生率。NIPT筛查遗传疾病的概念在过去二十年中不断发展,多种技术在FM领域中得到了应用。决定NIPS准确性的关键因素是游离细胞胎儿DNA (cffDNA),其在母体血浆中的含量极低(10%-15%)。在现有的方法中,下一代测序(NGS)被认为是金标准。然而,较高的成本降低了其在低资源环境中的效用。液滴数字聚合酶链反应(Droplet digital Polymerase chain reaction, ddPCR)是一种新型数字PCR技术,具有成本低、灵敏度高、劳动强度小、耗时短、算法依赖简单等优点。考虑到ddPCR的这些令人印象深刻的属性,我们决定严格审查现有的ddPCR用于NIPT的文献,同时强调其临床应用、挑战及其相对于NGS的优势。
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来源期刊
Congenital Anomalies
Congenital Anomalies PEDIATRICS-
自引率
0.00%
发文量
49
审稿时长
>12 weeks
期刊介绍: Congenital Anomalies is the official English language journal of the Japanese Teratology Society, and publishes original articles in laboratory as well as clinical research in all areas of abnormal development and related fields, from all over the world. Although contributions by members of the teratology societies affiliated with The International Federation of Teratology Societies are given priority, contributions from non-members are welcomed.
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