QF-PCR技术在胎儿常见染色体非整倍体快速诊断中的临床应用  

Clinical application on rapid diagnosis of common chromosome aneuploidy in fetus by QF-PCR

作　　者：刘沃满 唐玉芬[1] 黎洛冰 聂俊玮[1] 谭满胜 LIU Woman;TANG Yufen;LI Luobing;NIE Junwei;TAN Mansheng(Center for Genetic Excellence,Maoming Maternal and Child Health Hospital,Maoming,Guangdong 525000,China;Prenatal Diagnosis Center,Maoming Maternal and Child Health Hospital,Maoming,Guangdong 525000,China)

机构地区：[1]茂名市妇幼保健院遗传优生优育中心,广东茂名525000 [2]茂名市妇幼保健院产前诊断中心,广东茂名525000

出　　处：《国际检验医学杂志》2019年第19期2309-2312,共4页International Journal of Laboratory Medicine

基　　金：茂名市医学科学技术计划项目(2018007)

摘　　要：目的分析3 398例胎儿常见染色体非整倍体快速诊断的结果,探讨荧光定量聚合酶链反应(QFPCR)在胎儿常见染色体非整倍体中的临床应用价值。方法应用QF-PCR技术快速检测产前诊断标本中的13、18、21、X及Y染色体,并与传统的G显带染色体核型分析结果对比。结果在3 398例样本中,QF-PCR共检出非嵌合型染色体数目异常152例,其中21三体综合征93例,18三体综合征30例,13三体综合征6例,X单体6例,XXX 1例,XXY 11例,XYY 5例,XXX合并18三体综合征1例,上述检测结果与核型分析结果一致。嵌合型染色体数目异常7例,QF-PCR检出3例,分别是1例18三体综合征嵌合体,1例21三体综合征嵌合体,1例XXX与XX嵌合体,还有4例嵌合体QF-PCR未能检出。另外有2例QF-PCR结果与核型分析结果不符。1例QF-PCR结果为XYY,染色体核型结果为46,X,?der(Y),另1例QF-PCR结果为XY,染色体核型结果为45,X。结论 QF-PCR技术能快速、准确诊断13、18、21、X及Y非嵌合型染色体非整倍体异常,可缓解核型分析结果时间过长给孕妇带来的焦虑,产前珠蛋白生成障碍性贫血基因诊断同时进行13、18、21、X及Y染色体非整倍体快速检测,能有效避免漏诊染色体异常胎儿。Objective To investigate the clinical value of quantitative fluorescence-polymerase chain reaction(QF-PCR)in the diagnosis of 3 398 cases of common chromosome aneuploidy in fetuses.Methods The QF-PCR technique was applied to detect the chromosomes 13,18,21,X and Y in prenatal diagnosis specimens,and the results were compared with the traditional G-banding karyotype analysis results.Results In3 398 samples,QF-PCR detected 152 cases of non-chimeric chromosome abnormalities,including 93 cases of trisomy 21,30 cases of trisomy 18,6 cases of trisomy 13,6 cases of X monomer,1 case of XXX,11 cases of XXY,5 cases of XYY,1 case of XXX combined with trisomy 18.The above detection results are consistent with the karyotype analysis results.There were 7 cases of abnormal number of chimeric chromosomes,3 cases were detected by QF-PCR,1 case of 18-trisomy chimera,1 case of 21-trisomy chimera,1 case of XXX and XX chimera,and 4 cases of chimera QF-PCR could not be detected.In addition,2 cases of QF-PCR results were inconsistent with karyotype analysis results.The results of QF-PCR in one case were XYY and chromosome karyotype were 46,X,?der(Y),another QF-PCR result was XY,and the karyotype result was 45,X.Conclusion QF-PCR technology can rapidly and accurately diagnose 13,18,21,X and Y non-chimeric chromosome aneuploidy abnormalities,which can relieve the anxiety of pregnant women caused by long time of karyotype analysis results.Prenatal genetic diagnosis of thalassemia can simultaneously carry out rapid detection of 13,18,21,X and Y chromosome aneuploidy,which can effectively avoid missed diagnosis of fetus with chromosome abnormalities.

关 键 词：荧光定量聚合酶链反应 产前诊断 染色体非整倍体 核型分析 

分 类 号：R714.5[医药卫生—妇产科学]