CAJ | 학술논문

目的:探讨应用荧光原位杂交(HSH)产前诊断染色体非整倍体的临床价值.方法:收集120例产前诊断孕妇的新鲜羊水进行FISH检测和染色体核型分析,并将结果与临床追踪确诊结果(随访的新生儿或引产的死胎脐血或外周血的染色体核型)作比较,同时根据FISH的检测效能和分析产前诊断方案,评价HSH的临床应用价值.结果:①HSH检测全部成功,其结果与临床追踪确诊的核型分析一致,并且染色体非整倍体检出率100%;1例孕晚期羊水细胞培养失败,2例羊水培养为四倍体镶嵌体胎儿经临床追踪确诊后为正常染色体.②产前诊断指征中,高龄、多项指征及其他因素的孕妇临床上对FISH及核型分析这两种方法的选择比较,差异无统计学意义(P>0.05);而血清唐氏筛查异常和超声筛查异常的孕妇分别倾向选择FISH(P=0.029)及核型分析(P=0.000).结论:HSH技术能快速准确检测染色体非整倍体的异常.母血清唐氏筛查异常孕妇产前诊断倾向选择FISH检测.FISH可作为孕晚期高危孕妇首选的产前诊断方法.
목적:탐토응용형광원위잡교(HSH)산전진단염색체비정배체적림상개치.방법:수집120례산전진단잉부적신선양수진행FISH검측화염색체핵형분석,병장결과여림상추종학진결과(수방적신생인혹인산적사태제혈혹외주혈적염색체핵형)작비교,동시근거FISH적검측효능화분석산전진단방안,평개HSH적림상응용개치.결과:①HSH검측전부성공,기결과여림상추종학진적핵형분석일치,병차염색체비정배체검출솔100%;1례잉만기양수세포배양실패,2례양수배양위사배체양감체태인경림상추종학진후위정상염색체.②산전진단지정중,고령、다항지정급기타인소적잉부림상상대FISH급핵형분석저량충방법적선택비교,차이무통계학의의(P>0.05);이혈청당씨사사이상화초성사사이상적잉부분별경향선택FISH(P=0.029)급핵형분석(P=0.000).결론:HSH기술능쾌속준학검측염색체비정배체적이상.모혈청당씨사사이상잉부산전진단경향선택FISH검측.FISH가작위잉만기고위잉부수선적산전진단방법.
Objective:To investigate the clinical efficacy of fluorescence in situ hybridization(FISH)in prenatal diagnosis of chromosomal aneuploidy.Methods:FISH and karyotyping analysis were done in 120 samples of amniotic fluid from pregnant women.Results:FISH analysis results were consistent with those of karyotyping,the dectecting rate can reach 100%for chromosomal aneuploidies.There was no significant difference in the preference for FISH or karyotying for prenatal diagnosis when facing high matemal age,multi-indications and other factors(P>0.05).FISH was better when biochemical datafor down's syndrome were positive (P=0.029),however karyotyping was better when there was abnormal fetal ultrasound scan(P=0.000).Conclusions:FISH can detect the chromosomal aneuploidy quickly and accurately,especially when biochemical data for down's syndrome were positive.FISH could be the first choice for prenatal diagnosis in the third trimester of high-risk pregnancy.