唐氏综合征是人类常见的染色体疾病,经典的细胞遗传学方法是诊断唐氏综合征的金标准,但其局限性不适合大规模的产前诊断。随着分子细胞遗传学技术发展,荧光原位杂交技术(FISH)、定量荧光PCR(QF-PCR)、微阵列-比较基因组杂交(Array CGH)、多重连接探针扩增技术(MLPA)、引物原位标记技术(PRINS)等被用于唐氏综合征快速产前诊断,各种方法各有优劣,改进后会大力推进唐氏综合征的产前诊断速度和准确性。 Down Syndrome is a common human chromosome disease, the classic cytogenetics is the gold standard for Down’s syndrome diagnosis, but its limitations are not suitable for large-scale prenatal diagnosis. With the development of molecular cytogenetics, FISH, QF-PCR, Array CGH, MLPA, PRINS, etc. are used for the rapid prenatal diagnosis of Down’s syndrome, each method has its advantages and disadvantages, the improvement will greatly promote the prenatal diagnosis of Down Syndrome speed and accuracy.