引物原位标记法产前诊断18号染色体数目异常

目的：探讨引物原位标记法（PRINS）结合经腹脐血穿刺,应用于脐血中期细胞快速产前诊断18号染色体数目异常的可行性。方法：B超监护下经腹采集胎儿脐血共16例,外周血34例,应用18号染色体特异性引物,标记分裂中期细胞18号染色体,PRINS结果与中期细胞染色体G带分析结果进行比较。结果：16例脐血中,PRINS检测2例为18号三体,34例外周血中,1例为18三体,与染色体核型分析一致。结论：PRINS是一种简便、快速、可靠的产前诊断染色体数目异常的临床检测方法,值得进一步研究与推广。

Rapid Prenatal Diagnosis of Fetal Chromosomal Aneuploidies 18 by Primed in situ Labeling

Purpose To study the feasibility of PRINS for rapid prenatal diagnosis of fetal 18 aneuploidy in metaphase cells from umbilical blood. Methods Primer 18 is used to label chromosomes in metaphase cells from peripheral blood and umbilical blood.The results of PRINS were compared with the chromosome G banding analysis. Results Two samples of trisomy 18 in umbilical blood and one samples of trisomy 18 in peripheral blood were detected according to the Ward's standard. The results were consistent with chromosome G banding analysis. Conclusions PRINS is a rapid, efficient method and reliable way to detect fetal aneuploidy in metaphase cells from umbilical blood .It is an efficient way for rapid prenatal diagnosis of aneuploidy and deserved to be popularized.