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非整倍体疾病是类因染色体数量异常引起的综合征,目前尚无有效的治疗方法,产前诊断后终止妊娠是预防此类疾病患儿出生的可行措施。染色体核型分析是诊断该类疾病的金标准,但细胞培养耗时较长。近年,PCR技术在非整倍体疾病快速诊断应用中发展迅速,具有试剂成本相对较低、检测批量大和快速的优势。本文分别从定性、半定量、定量不同层次来探讨PCR及相关技术常见非整倍体疾病的产前诊断中的应用。
Aneuploidy is a syndrome caused by an abnormal number of chromosomes. Currently, there is no effective treatment. The termination of pregnancy after prenatal diagnosis is a feasible measure to prevent the birth of children with such diseases. Chromosomal karyotyping is the gold standard for the diagnosis of such diseases, but cell culture takes longer. In recent years, PCR technology has developed rapidly in the application of rapid diagnosis of aneuploidy diseases, and has the advantages of relatively low reagent cost, large and rapid testing batch. This article from the qualitative, semi-quantitative, quantitative different levels to explore PCR and related technologies common aneuploidy prenatal diagnosis of the application.