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大多数染色体异常为21,13,18号染色体及性染色体的非整倍体异常,血清筛查结果为高风险及年龄35岁以上的妊娠妇女均需进行产前诊断。而产前诊断染色体异常的传统方法是核型分析,染色体核型分析结果一般需要2～3周。随着分子生物学的飞速发展,聚合酶链反应技术不断应用于染色体非整倍体的产前诊断,这些新技术敏感性高、特异性强、操作简便、实验周期短,适合于非整倍体的产前诊断。
Most chromosomal abnormalities are aneuploidy on chromosomes 21, 13, and 18 and aneuploidy on sex chromosomes. Pregnant women over 35 years of age who are at high risk for serological screening are required to have prenatal diagnosis. The traditional method of prenatal diagnosis of chromosomal abnormalities is karyotyping, chromosome karyotyping results generally require 2 to 3 weeks. With the rapid development of molecular biology, polymerase chain reaction (PCR) technology is continuously applied to the prenatal diagnosis of aneuploidy in chromosomes. These new technologies are highly sensitive, specific, easy to operate, short in experimental period and suitable for aneuploidy Prenatal diagnosis of the body.