CAJ | 학술논문

目的探讨应用孕妇血浆胎儿游离DNA高通量基因测序技术检测胎儿染色体拷贝数的准确性和实际临床可行性.方法选择需做产前诊断的153名孕妇,采用高通量基因测序技术检测母体血浆胎儿游离DNA,分析胎儿染色体拷贝数;同时行羊膜腔穿刺进行胎儿染色体核型分析.结果 153名孕妇中,母体血浆游离DNA平行测序技术共检测出6例染色体异常高风险胎儿.羊水分析证实6例均为染色体异常,其中非整倍体5例,分别为47,XYY; 45,X;47,XY,+18;47,XY,+21以及47,XY,+13;染色体结构异常1例,核型为46,XY,der (13; 21)(q10; q10),+21.另检出染色体多态性3例(1例46,XY,21p+;2例46,XY,Yqh-).两种方法检测胎儿染色体拷贝数异常结果一致.结论母体血浆游离DNA高通量测序分析可以用于胎儿染色体拷贝数异常的检测,具有无创、灵敏度高、特异性强等优点,在胎儿染色体拷贝数异常疾病的产前检测中具有广泛的应用前景.
목적 탐토응용잉부혈장태인유리DNA고통량기인측서기술검측태인염색체고패수적준학성화실제림상가행성.방법 선택수주산전진단적153명잉부,채용고통량기인측서기술검측모체혈장태인유리DNA,분석태인염색체고패수;동시행양막강천자진행태인염색체핵형분석.결과 153명잉부중,모체혈장유리DNA평행측서기술공검측출6례염색체이상고풍험태인.양수분석증실6례균위염색체이상,기중비정배체5례,분별위47,XYY; 45,X;47,XY,+18;47,XY,+21이급47,XY,+13;염색체결구이상1례,핵형위46,XY,der (13; 21)(q10; q10),+21.령검출염색체다태성3례(1례46,XY,21p+;2례46,XY,Yqh-).량충방법검측태인염색체고패수이상결과일치.결론 모체혈장유리DNA고통량측서분석가이용우태인염색체고패수이상적검측,구유무창、령민도고、특이성강등우점,재태인염색체고패수이상질병적산전검측중구유엄범적응용전경.
Objective To determine the feasibility and accuracy of detecting numerical chromosomal abnormalities by high-flux sequencing analysis of free fetal DNA from maternal plasma.Methods High-flux sequencing was applied to analyze fetal chromosome sequence copy numbers in 153 pregnant women.Fetal karyotyping was also carried out on amniocentesis samples.Results Six cases were detected with fetal chromosomal abnormalities by high-flux sequencing analysis, among which five were confirmed by karyotyping to be chromosomal aneuploidies ( 47,XYY; 45,X; 47,XY; + 18,47 ; XY,+ 21 and 47,XY,+13),1 case was confirmed to be structural rearrangement,i.e.,46,XY,der ( 13 ; 21 ) ( q10 ; q10),+ 21.Furthermore,3 chromosomal polymorphisms (one 46,XY,2 lp+ and two 46,XY,Yqh- ) were identified.The two methods yielded similar results on fetal chromosome copy number detection.Conclusion High-flux sequencing analysis of free DNA derived from maternal plasma is efficient for detecting fetal chromosomal aneuploidies,and is non-invasive,highly sensitive and specific. It therefore has a broad application in antenatal diagnosis.