摘要
目的分析细胞染色体核型和QF-PCR技术联合在孕中期产前诊断中的应用价值。方法回顾性分析本院产前诊断中心进行孕中期羊膜腔穿刺的653例孕妇,同时接受染色体核型分析及QF-PCR两种方法进行诊断,比较两种技术在非整倍体(主要是13、18、21、X、Y)数目异常和染色体结构异常诊断中的符合度。结果653例羊水标本中,细胞染色体核型分析结果发现染色体数目异常11例,包括21三体5例,18三体2例,13三体1例,XXY 1例,其他异常2例。QF-PCR检测结果显示染色体数目异常9例,包括21三体5例,18三体2例,13三体1例,XXY(经FISH验证)1例。诊断染色体结构异常时,染色体核型分析结果显示8例异常,而QF-PCR检测结果显示3例异常:1例46,XN,dup(18)(q22;q23)QF-PCR扩增出的峰值在STR位点(D18S386)出现了3峰;2例特殊的结构异常并伴有21三体QF-PCR确诊为21三体,但是QF-PCR并没有提示任何结构改变。其余核型均正常。结论在诊断常见染色体非整倍体数目异常(主要是13、18、21、X、Y)时核型分析和QF-PCR结果符合度高达100%,诊断染色体结构异常时主要是核型分析,两种技术联合应用于孕中期产前诊断,可以相互补充,有助于早期诊断常见染色体异常。
Objective To analyze the application value of cell chromosome karyotype and QF-PCR in prenatal diagnosis of second trimester.Methods Aretrospective analysis of 653 pregnant women who underwent amniocentesis in the second trimester in the prenatal diagnosis center of our hospital was conducted.Meanwhile,chromosome karyotype analysis and QF-PCR were used for diagnosis,and the consistency of the two techniques in the diagnosis of aneuploidy(mainly 13,18,21,X,Y)number abnormality and chromosome structure abnormality was compared.Results In 653 amniotic fluid samples,chromosome karyotype analysis results showed that 11 cases had abnormal chromosome number,including 5 cases of trisomy 21,2 cases of trisomy 18,1 case of trisomy 13,1 case of XXY,2 cases of others.QF-PCR results showed abnormal chromosome number in 9 cases,including 5 cases of trisomy 21,2 cases of trisomy 18,1 case of trisomy 13,and 1 case of XXY(verified by FISH).In the diagnosis of chromosomal structural abnormalities,chromosome karyotype analysis results showed 8 cases of abnormalities,while QF-PCR results showed 3 cases of abnormalities:46,XN,dup(18)(q22;Q23).The peak value of QF-PCR showed a triple peak at STR(D18S386).Two specific structural abnorm-alities with trisomy 21 results were confirmed by QF-PCR,but QF-PCR did not suggest any structural changes.All the other karyotypes were normal.Conclusion In the diagnosis of abnormal number of common chromosomal aneuploidy(mainly 13,18,21,X,Y)and karyotype analysis QF-PCR results conform to the degree of up to 100%,the diagnosis of abnormal chromosome structure mainly karyotype analysis,combination of both techniques applied in mid pregnancy,prenatal diagnosis,can complement each other,help to early diagnosis of common chromosomal abnormalities.
作者
聂茹
Nie Ru(Department of Laboratory,Chaoyang Central Hospital,Liaoning,Chaoyang,Liaoning,122000,China)
出处
《当代医学》
2020年第4期101-103,共3页
Contemporary Medicine
关键词
荧光定量PCR
核型分析
非整倍体
染色体结构异常
Fluorescence quantitative PCR
Karyotype analysis
Aneuploidy
Chromo-somal abnormality
