测序技术在无创产前筛查中的应用及进展

测序技术是现代分子生物学研究中的重要技术，1977年桑格测序技术（一代测序技术）出现。30年后，二代测序技术也应用于科研及临床；近年国外出现了以单分子测序为特点的第三代测序技术。测序技术促进了无创产前筛查技术的进步。相对于传统的羊膜腔穿刺术和绒毛活检，高通量测序技术通过对妊娠妇女血浆中胎儿游离DNA进行测序而获得胎儿的染色体信息，避免直接接触和伤害生长中的胎儿。研究人员利用大规模并行测序技术发现无创产前筛查技术相对于标准筛查技术拥有较高敏感度和特异度。多国卫生机构相继公布了产前检测的指导意见。2013年，单细胞测序开始应用于产前辅助生殖技术的临床试验。国内外通过对单个卵细胞的测序有望大幅度提高辅助生殖的活产率。高通量测序技术在产前诊断领域具有广阔的应用前景。

Application of Sequencing Technologies in Noninvasive Prenatal Screening

Many sequencing technologies have been used in molecular biology research and clinical practice. In 1977, Sanger Sequencing （the first generation DNA sequencing technology） was firstly introduced. With the development of sequencing technology in the past 30 years, the next generation sequencing （NGS） was also used, and the third generation sequencing technology based on the single DNA molecule was developed. These sequencing technologies are benefit for the development of noninvasive prenatal screening （ NIPS ） . Compared with those traditional technologies combined with amniocentesis and chorionic villus sampling ,NGS obtains the fetal chromosomal information from sequencing cell-free fetal DNA （cffDNA） in maternal plasma, which avoids the fetal risk during the sampling procedure. Researchers found that the massively parallel sequencing （MPS）-based test was of high sensitivity and specificity in detecting fetal trisomies 21 and 18. The clinical application statement and the committee opinion were published by many health organizations. In 2013, the single cell sequencing （SNS） has also been used in the clinical trials of prenatal assisted reproductive technology. The live birth rate of in vitro fertilization and embryo transfer （IVF-ET） could be significantly improved in future using the single oocyte sequencing. So, the NGS will be widely used in the prenatal diagnosis.