荧光定量PCR用于胎儿非整倍体的产前快速诊断

Rapid Prenatal Detection of Fetal Aneuploidy by Quantitative Fluorescent PCR

染色体非整倍体异常是人类最常见的一类染色体数目异常。目前,这类异常尚缺乏有效的治疗方法,因此产前诊断对预防此类缺陷儿的出生具有至关重要的作用。细胞遗传学核型分析是诊断胎儿非整倍体异常的金标准,但诊断周期较长。随着分子生物学的发展,荧光定量聚合酶链反应(quantitative fluorescent polymerase chain reaction,QF-PCR)等技术逐渐用于胎儿非整倍体异常的产前快速诊断。本文就QF-PCR技术在胎儿非整倍体产前快速诊断中的应用做一综述。

In human,aneuploidy is the most common chromosomal numerical abnormality.To prevent these defected fetuses born,prenatal diagnosis plays an important role,because of the lack of effective therapy for such diseases.Cytogenetic karyotyping is the gold standard of aneuploidy detection,but it requires a lengthy reporting time after sampling.With the development of molecular biology,quantitative fluorescent polymerase chain reaction(QF-PCR)be used to rapid aneuploidy detection(RAD)gradually.This review is about the application of QF-PCR on RAD.