CAJ | 학술논문

我国为降低新生儿非整倍体疾病的发生开展了大量的产前筛查和诊断工作,但仍然存在着覆盖率低、后续诊断能力不足的问题.提高产前筛查的效率、降低假阳性率,大力发展快速产前诊断技术及其他新技术是突破“瓶颈”的关键.胎儿游离DNA技术是一种“近似于诊断的筛查”,在非整倍体的筛查中具有广阔的应用前景.荧光原位杂交、荧光定量PCR等快速诊断技术,有望用于非整倍体高危人群的后续诊断.染色体微阵列分析在微缺失综合征的诊断中具有很高的灵敏性.细胞分子产前诊断时代已经到来.
아국위강저신생인비정배체질병적발생개전료대량적산전사사화진단공작,단잉연존재착복개솔저、후속진단능력불족적문제.제고산전사사적효솔、강저가양성솔,대력발전쾌속산전진단기술급기타신기술시돌파“병경”적관건.태인유리DNA기술시일충“근사우진단적사사”,재비정배체적사사중구유엄활적응용전경.형광원위잡교、형광정량PCR등쾌속진단기술,유망용우비정배체고위인군적후속진단.염색체미진렬분석재미결실종합정적진단중구유흔고적령민성.세포분자산전진단시대이경도래.
Great efforts have been made in the prenatal screening and prenatal diagnosis of aneuploidy in China.Nevertheless,the coverage percentage of screening is still low,and the capability of diagnosis is far from enough.To elevate the efficacy of prenatal screening,developing fast aneuploidy diagnositic techniques is quite important.Cell-free DNA testing is believed to be a confirmatory screening test of aneuploidy.Fluorescence in situ hybridization,fluorescence quantitative PCR might be used in the prenatal diagnosis in high risk women.Chromosomal microarray analysis has high sensitivity in the diagnosis of microdeletion and microduplication.The era of cytomolecular diagnosis is coming.