无创产前筛查中影响胎儿游离DNA浓度的因素研究进展  

Research progress of factors affecting fetal fraction in noninvasive prenatal testing

作　　者：魏智芳(综述) 侯东霞 王晓华(审校) WEI Zhifang;HOU Dongxia;WANG Xiaohua(Department of Genetic Eugenics,Maternal and Child Health Hospital of Inner Mongolia Autonomous Region,Hohhot,Inner Mongolia 010000,China;Inner Mongolia Autonomous Region Engineering Research Center for Medical Genetics,Hohhot,Inner Mongolia 010000,China;Neonatal Screening Laboratory,Wulanqab City Maternal and Child Health Hospital,Wulanqab,Inner Mongolia 012000,China)

机构地区：[1]内蒙古自治区妇幼保健院遗传优生科,内蒙古呼和浩特010000 [2]医学遗传学内蒙古自治区工程研究中心,内蒙古呼和浩特010000 [3]内蒙古自治区乌兰察布市妇幼保健院新生儿筛查实验室,内蒙古乌兰察布012000

出　　处：《检验医学与临床》2025年第6期850-854,859,共6页Laboratory Medicine and Clinic

基　　金：内蒙古自治区自然科学基金项目(2019MS08006);内蒙古自治区妇幼保健院院内科研基金项目(2023FYYNB003)。

摘　　要：胎儿游离DNA浓度(FF)通过结合生物因素和生物信息算法解读无创产前筛查(NIPT)结果,是NIPT的重要质量控制参数。不同个体间FF水平存在差异,任何潜在干扰母体或胎盘中游离DNA浓度的因素,都可能进一步影响NIPT结果的准确性。然而目前对于已知影响FF的因素仍未形成广泛共识。该文将重点探讨影响NIPT结果的生物因素,涵盖母体及胎儿自身因素,同时对FF的意义进行分析,以期加深对此关键指标的全面理解,进而有助于临床医生通过分析个体差异,为筛查对象定制个性化的采血时机,从而提高NIPT的准确率及临床应用效果。此外,深入研究FF的意义也将是未来的一个热点趋势,有望揭示其在预测不良妊娠结局方面的潜在价值。Fetal fraction(FF)is an important quality control parameter for non-invasive prenatal testing(NIPT),which is interpreted by combining biological factors and bioinformation algorithms.FF levels vary among individuals,and any potential interference with the content of free DNA in the mother or placenta may further affect the accuracy of NIPT results.However,there is still no broad consensus on the factors known to influence FF.This paper will focus on the biological factors affecting the results of NIPT,including maternal and fetal factors,and analyze the significance of FF,in order to deepen comprehensive understanding of this key indicator,and then help clinicians to analyze individual differences and customize personalized blood collection time for screening objects,so as to improve the accuracy and clinical application effect of NIPT.In addition,in-depth study of the significance of FF value will also be a hot trend in the future,and it is expected to reveal its potential value in predicting adverse pregnancy outcomes.

关 键 词：无创产前筛查 非整倍体 胎儿游离DNA 胎儿分数 质量控制 

分 类 号：R715.5[医药卫生—妇产科学]