18三体综合征是一种常见的染色体三体征,其产前诊断的传统方法是染色体核型分析,但该方法操作复杂、实验周期长,不能检测出微小的染色体异常。随着分子生物学技术的发展,许多新技术如比较基因组杂交(comparative genomic hybridization,CGH)、定量荧光PCR(Quantitative Fluorescence-PCR,QF-PCR)等用于18三体的产前诊断。这些新技术敏感性高、特异性强、操作简便、实验周期短,适合18三体的产前诊断。 Trisomy 33 is a common trisomy of chromosomes. The traditional method of prenatal diagnosis is chromosome karyotype analysis. However, this method is complicated to operate and has long experimental period and can not detect minor chromosomal abnormalities. With the development of molecular biology techniques, many new techniques such as comparative genomic hybridization (CGH) and quantitative fluorescence PCR (QF-PCR) are used for prenatal diagnosis of trisomy 18. These new technologies are highly sensitive, specific, easy to operate, short in experimental cycle and suitable for prenatal diagnosis of trisomy 18.