胎儿游离DNA片段富集技术在无创产前检测技术中的研究进展OA

Cell-free fetal DNA(cffDNA)serves as the core biomarker for noninvasive prenatal test(NIPT),yet its low abundance in maternal plasma and the substantial maternal background interference significantly limit the sensitivity and applicability of NIPT.Leveraging the characteristic shorter fragment length of cffDNA compared to maternal cell-free DNA(cfDNA),various fragment length-based enrichment techniques have been developed,ranging from early methods such as gel electrophoresis and magnetic bead size selection to polymerase chain reaction(PCR)-based mutation sequencing,computational simulation approaches,and microfluidic systems.The technique development has markedly improved the separation efficiency and purity of cffDNA.Clinical studies demonstrate that after enrichment of the fetal fraction(FF),NIPT exhibits significantly enhanced sensitivity and specificity for common trisomy syndromes in high-risk populations(including those with low FF,advanced maternal age,obesity,and early pregnancy)while also reducing sequencing depth requirements and improving cost-effectiveness.Future research on cffDNA fragment enrichment technology will continue to evolve toward further increasing enrichment efficiency,lowering costs,simplifying operational procedures,expanding clinical applications,and promoting the integration of multiple techniques.