摘要
目的探讨多重荧光定量PCR(QF-PCR)技术在快速产前诊断常见非整倍染色体中的临床应用价值。方法应用QF-PCR技术快速诊断205例产前羊水标本中的13、18、21、X、Y染色体,并与常规核型分析结果对比。结果 205例产前诊断标本QF-PCR法共检出17例非整倍染色体,其中10例21三体、3例18三体、1例13三体和3例性染色体异常,与染色体核型分析结果一致;另有1例平衡易位、1例嵌合体及3例倒位核型无法通过QFPCR检测出,两种方法一致性97.6%。结论QF-PCR作为一种快速诊断常见非整倍染色体技术,结果准确可靠,可在产前诊断应用中发挥重要作用。
Objective To evaluate the clinical value of quantitative fluorescent polymerase chain reaction （QF-PCR） for rapid prenatal diagnosis of common chromosome aneuploidies. Methods Totally 205 amniotic fluid samples were detected by QF-PCR for aneuploidies of chromosomes 13,18,21, X and Y for prenatal diagnosis,and the results were compared with those obtained by conventional cytogenetic analysis. Results Totally 17 numerical abnormalities were diagnosed by QF-PCR method in 205 fetal samples,trisomy 21 in 10 cases,trisomy 18 in 3 cases,trisomy 13 in 1 case, and sex chromosome aneuploidies in 3 cases, they were in concordance with the results by karyotype method. QF-PCR failed to detect out a translocation in one case, a mosaicism in one case and an inversion in three cases. Conclusion As a technique of rapidly and correctly diagnosis of common aneuploidies, QF-PCR is considered as important clinical application in prenatal diagnosis.
出处
《海峡预防医学杂志》
CAS
2017年第3期4-6,72,共4页
Strait Journal of Preventive Medicine
基金
福建省科技厅重大专项(No.2013YZ0002-1)
福建省临床重点专科建设项目(No.20121589)
关键词
产前诊断
QF-PCR
核型
非整倍体
Prenatal Diagnosis
Quantitative Fluorescent Polymerase Chain Reaction （QF-PCR）
Karyotype
Aneuploidy
