本文選題：染色體核型分析　切入點(diǎn)：微列陣比較基因組雜交　出處：《實(shí)用婦產(chǎn)科雜志》2015年04期

【摘要】：目的:探討羊水細(xì)胞染色體核型分析技術(shù)和微列陣比較基因組雜交技術(shù)(array-CGH)驗(yàn)證無(wú)創(chuàng)產(chǎn)前檢測(cè)(NIPT)的臨床意義。方法:對(duì)NIPT提示信號(hào)異常的95例孕婦行羊膜腔穿刺術(shù),抽取羊水進(jìn)行培養(yǎng)后行染色體核型分析驗(yàn)證其符合率;同時(shí)對(duì)提示除外21-三體、18-三體、13-三體的常染色體異常(即其他常染色體異常)的患者行array-CGH分析,驗(yàn)證其符合率。結(jié)果:NIPT提示21-三體高風(fēng)險(xiǎn)的染色體核型分析符合率86.96%(40/46);18-三體的染色體核型分析符合率76.92%(10/13);13-三體染色體核型分析符合率0(0/2)。性染色體核型分析的符合率50.00%(9/18),其中1例性染色體異常的染色體核型分析為46,XX,del(Xq23-25),行array-CGH驗(yàn)證,提示為X染色體該區(qū)帶11.9 M的片段缺失。其他常染色體異常的染色體核型分析符合率12.50%(2/16),其array-CGH驗(yàn)證的符合率25.00(4/16)。結(jié)論:NIPT的結(jié)果需要驗(yàn)證,經(jīng)典的羊水細(xì)胞染色體核型分析技術(shù)可以驗(yàn)證胎兒染色體數(shù)目和結(jié)構(gòu)異常,array-CGH可以驗(yàn)證微缺失或者微重復(fù),分辨率更高。
[Abstract]:Objective: to investigate the clinical significance of amniotic fluid chromosome karyotype analysis and microarray comparative genomic hybridization (CGH) in the verification of noninvasive prenatal detection (NIPT). Methods: amniocentesis was performed in 95 pregnant women with abnormal NIPT signals. The karyotype analysis of amniotic fluid was performed to verify the coincidence rate, and array-CGH analysis was performed for patients with autosomal abnormalities (i.e. other autosomal abnormalities) except for 21 trisomy 18 trisomy 13 trisomy. Results the coincidence rate of chromosome karyotype analysis for 21-trisomy high risk was 86.96 / 40 / 46 / 18-trisomy. The coincident rate of chromosome karyotype analysis was 76.92% 10 / 13 / 13 / 13 trisomic karyotype analysis. The coincidence rate of sex chromosome karyotype analysis was 50.000 / 9 / 18%. The karyotype analysis of one case of sex chromosomal abnormality was 46 xxxdelia Xq23-25, which was verified by array-CGH. The results suggest that the chromosome karyotype of other autosomal abnormalities is 12.50% / 16%, and the coincidence rate of array-CGH verification is 25.00% / 4 / 16%. Conclusion: the results of the chromosome karyotype analysis of the other autosomal abnormalities need to be verified. The classical chromosome karyotype analysis of amniotic fluid cells can verify that fetal chromosomes with abnormal number and structure can be verified by microdeletion or microrepetition with higher resolution.
【作者單位】： 江蘇省南京市婦幼保健院;
【基金】：國(guó)家自然科學(xué)基金(編號(hào):81300495) 江蘇省醫(yī)學(xué)領(lǐng)軍人才與創(chuàng)新團(tuán)隊(duì)項(xiàng)目(編號(hào):LJ201109) 南京醫(yī)科大學(xué)重點(diǎn)項(xiàng)目(編號(hào):2011NJMU214)
【分類號(hào)】：R714.5

【共引文獻(xiàn)】

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