胎儿遗传病实验诊断标本采集方法的对比分析

Methodological study on laboratory diagnosis of genetic diseases in fetus

目的探讨提高胎儿遗传病产前诊断准确性的不同标本采集方法。方法28例妊娠17～27周孕妇,在超声引导下单人徒手经母腹穿刺,同时取羊水、胎儿脐血行染色体、基因检查。结果羊水、胎儿脐血DNA进行短串联重复序列(STR)单体连锁分析5个位点排除母体细胞污染。羊水和脐血染色体、基因产前诊断结果一致性达100%。结论经母腹穿刺同时取羊水、胎儿脐血行胎儿遗传病产前诊断是减少误诊、漏诊、假阴性、假阳性的有效、可行的重要方法。

Objective To investigate the validity of AC （amniocentesis） and FBS （fetal blood sampling） in the clinical prenatal diagnosis of hereditary disease in fetus. Methods Ultrasound - guided AC and FBS were introduced manually to carry out chromosome and gene tests in 28 pregnant women during 17 - 27 gestational weeks. Results To eliminate contamination from maternal body cell, STR （short tandem repeat） haploid linkage analysis of amniotie fluid and cord blood in five loci were performed, and the results of chromosome, gene, and biochemical tests for both amniotie fluid and cord blood completely accorded with each other with a coincidence rate of 100%. Conclusion The application of both amniotie fluid tests and cord blood tests is an efficient and practical way to reduce misdiagnosis.