胎儿染色体异常快速产前检测方法的研究进展  

Advances in rapid prenatal detection of fetal chromosome abnormalities

作　　者：王洁[1,2] 崔英霞[1] 

机构地区：[1]南京军区南京总医院解放军检验医学研究所,江苏南京210002 [2]解放军81医院检验科,江苏南京210002

出　　处：《中华男科学杂志》2010年第4期359-363,共5页National Journal of Andrology

摘　　要：快速产前检测方法是产前诊断的重要组成部分,包括细胞和分子遗传学和超声诊断。由于细胞和分子遗传学检测技术的介入,胎儿染色体非整倍体的快速检出及某些染色体结构异常的鉴别能力,得到了很大的提高。目前临床上较常用的细胞和分子遗传技术包括荧光原位杂交技术(FISH)、荧光定量PCR(QF-PCR)、多重连接探针扩增技术(MLPA)和微阵列比较基因组杂交技术(array-CGH)。在怀孕的第1和第2个"3个月"阶段进行有效的超声检查,常见的染色体异常都可以被检测出来。因此,将细胞和分子遗传技术与超声检测相结合,可以提高胎儿染色体非整倍体的检出率和产前诊断的准确性,以减少缺陷婴儿的出生。Rapid prenatal detection methods,including molecular cytogenetic analysis and ultrasonographic markers,are very important for prenatal diagnosis.The use of molecular cytogenetic techniques has significantly improved the rapid detection of aneuploidy and identification of small structural abnormalities of fetal chromosomes.At present,commonly used molecular cytogenetic techniques include fluorescence in situ hybridization（FISH）,quantitative fluorescence PCR（QF-PCR）,multiplex ligation-dependent probe amplification（MLPA） and microarray-based comparative genomic hybridization（array CGH）.There is extensive evidence that major chromosomal abnormalities can be effectively detected by ultrasonography in the first and second trimesters of pregnancy.So we can combine molecular cytogenetic techniques with ultrasonographic markers to improve the identification of aneuploidies for chromosomes and the accuracy of prenatal diagnosis,and to reduce birth defects in newborns.

关 键 词：快速产前检查 染色体 超声诊断 荧光原位杂交技术 荧光定量PCR 多重连接探针扩增技术 微阵列比较基因组杂交技术 

分 类 号：R714.5[医药卫生—妇产科学]