胎儿有核红细胞在单基因病无创产前检测中的应用  

The application of fetal nucleated red blood cells in the noninvasive prenatal testing for monogenic diseases

作　　者：袁永一[1] 李晓鸽 戴朴[1] Yuan Yongyi;Li Xiaoge;Dai Pu(Senior Department of Otolaryngology Head and Neck Surgery,the Sixth Medical Center of Chinese PLA General Hospital/State Key Laboratory of Hearing and Balance Science/National Clinical Research Center for Otolaryngologic Diseases/Key Laboratory of Hearing Science,Ministry of Education/Beijing Key Laboratory of Hearing Impairment Prevention and Treatment,Beijing 100048,China)

机构地区：[1]解放军总医院第六医学中心耳鼻咽喉头颈外科医学部,听觉与平衡觉全国重点实验室,国家耳鼻咽喉疾病临床医学研究中心,聋病教育部重点实验室,聋病防治北京市重点实验室,北京100048

出　　处：《中华医学杂志》2025年第6期411-415,共5页National Medical Journal of China

基　　金：国家重点研发计划(2022YFC2703602);国家自然科学基金(82271177,82271185);北京市自然科学基金(7242137)。

摘　　要：胎儿有核红细胞存在于孕妇外周血中,具有完整的胎儿遗传信息,是进行胎儿遗传病检测和预警的一类理想细胞,已被证实可用于胎儿性别鉴定和染色体非整倍体检测。单基因遗传病异质性强、变异位点及变异类型多样,应用胎儿有核红细胞检测前需要突破细胞富集分选、来源鉴定、微量模板扩增及测序、生物信息分析等瓶颈问题,以获得高纯度的胎儿细胞,高基因组覆盖度、高保真度、无偏倚的全基因组扩增产物,以及准确的基因变异检测及分析结果。聚焦以上问题,本文重点介绍胎儿有核红细胞在单基因病无创产前检测中的进展及问题。Fetal nucleated red blood cells(fNRBCs)in the peripheral blood of pregnant women which contain the complete genetic information of the fetus,emerge as the ideal cells for fetal genetic diseases screening and prediction.These cells have been proven useful for fetal sex identification and the detection of chromosomal aneuploidy.Given the strong heterogeneity and diverse mutation sites and types of monogenic diseases,several bottleneck issues,such as rare cell enrichment and sorting,cell origin identification,sequencing of minute amounts of DNA,and bioinformatics analysis,merits further investigation prior to utilizing fNRBCs for testing.Addressing these challenges can contribute to obtaining highly purified fetal cells,high-coverage,high-fidelity,and unbiased whole-genome amplification products,as well as accurate genetic mutation detection and analysis results.In light of the aforementioned issues,this article primarily focuses on the advancements and challenges in the non-invasive prenatal testing of monogenic diseases using fNRBCs.

关 键 词：产前诊断 无创产前检测 胎儿有核红细胞 单基因病 

分 类 号：R714.5[医药卫生—妇产科学]