中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2009年
2期
156-160
,共5页
张卫社%陈其能%吴新华%梁清华
張衛社%陳其能%吳新華%樑清華
장위사%진기능%오신화%량청화
荧光原位杂交%比较基因组杂交%产前诊断
熒光原位雜交%比較基因組雜交%產前診斷
형광원위잡교%비교기인조잡교%산전진단
fluorescence in situ hybridization%comparative genomic hybridization%prenatal diagnosis
目的 探讨G显带、荧光原位杂交(fluorescencein situ hybridization,FISH)和比较基因组杂交(comparative genomic hybridization,CGH)技术在产前诊断中应用的程序及意义.方法 采集102例妊娠16周～24周胎儿的羊水,采用G显带、G显带/FISH和G显带/FISH/CGH三阶梯的核型诊断程序,并分析其在产前诊断中的意义.结果 102例胎儿中,经第1阶梯诊断核型98例,诊断困难2例,失败2例;第2阶梯诊断核型2例,诊断困难1例,失败1例;第3阶梯诊断核型2例.经3阶梯诊断程序核型的诊断率达100%(102/102例),异常核型7例(7/102例,6.68 0A),其中第1、第2和第3阶梯分别诊断异常核型4例(4/7例,57.1 oA)、1例(1/7例,14.3%)和2例(2/7例,28.5%).结论 在产前诊断中实施3阶梯诊断程序有助于提高核型的确诊率,规范染色体诊断流程.
目的 探討G顯帶、熒光原位雜交(fluorescencein situ hybridization,FISH)和比較基因組雜交(comparative genomic hybridization,CGH)技術在產前診斷中應用的程序及意義.方法 採集102例妊娠16週～24週胎兒的羊水,採用G顯帶、G顯帶/FISH和G顯帶/FISH/CGH三階梯的覈型診斷程序,併分析其在產前診斷中的意義.結果 102例胎兒中,經第1階梯診斷覈型98例,診斷睏難2例,失敗2例;第2階梯診斷覈型2例,診斷睏難1例,失敗1例;第3階梯診斷覈型2例.經3階梯診斷程序覈型的診斷率達100%(102/102例),異常覈型7例(7/102例,6.68 0A),其中第1、第2和第3階梯分彆診斷異常覈型4例(4/7例,57.1 oA)、1例(1/7例,14.3%)和2例(2/7例,28.5%).結論 在產前診斷中實施3階梯診斷程序有助于提高覈型的確診率,規範染色體診斷流程.
목적 탐토G현대、형광원위잡교(fluorescencein situ hybridization,FISH)화비교기인조잡교(comparative genomic hybridization,CGH)기술재산전진단중응용적정서급의의.방법 채집102례임신16주～24주태인적양수,채용G현대、G현대/FISH화G현대/FISH/CGH삼계제적핵형진단정서,병분석기재산전진단중적의의.결과 102례태인중,경제1계제진단핵형98례,진단곤난2례,실패2례;제2계제진단핵형2례,진단곤난1례,실패1례;제3계제진단핵형2례.경3계제진단정서핵형적진단솔체100%(102/102례),이상핵형7례(7/102례,6.68 0A),기중제1、제2화제3계제분별진단이상핵형4례(4/7례,57.1 oA)、1례(1/7례,14.3%)화2례(2/7례,28.5%).결론 재산전진단중실시3계제진단정서유조우제고핵형적학진솔,규범염색체진단류정.
Objective To investigate the procedure and the value of G-banding, fluorescence in situ hybridization (FISH) and comparative genomie hybridization (CGH) techniques in prenatal diagnosis. Methods Karyotype analyses with three diagnostic procedures, G-banding, G-banding and FISH, G-banding, FISH and CGH, were performed in the amniotic fluid samples taken from 102 fetuses at gestational ages 16-24 weeks. And the significance was valued in prenatal diagnosis. Results In the first procedure of karyotype analysis, 98 cases were diagnosed, 2 cases were not conformed while 2 cases were failed in all 102 cases. In the second procedure, 2 cases were determined, 1 case was not conformed and 1 case was still failed. In the third step, 2 cases were diagnosed. The diagnostic rate of the karyotype reached to 100% (102/102 cases) using all the three procedures. In total; seven cases with chromosomal abnormality were diagnosed. Four cases, 1 case and 2 cases were identified in the first step (4/7, 57.1 %),the second (1/7, 14.3%) and the third (2/7, 28.5%), respectively. Conclusion It can help improve the diagnostic rate of chromosomal aberrations and standardize diagnostic procedure to perform the three detecting steps in prenatal diagnosis.
