摘要
目的:定量分析不同孕期孕妇外周血中游离胎儿DNA(cffDNA)正常浓度范围,为无创性产前诊断(NIPD)的应用提供基础数据。方法:采用实时荧光定量PCR技术检测DYS14基因并定量分析妊娠早期(5~14周)47例、妊娠中期(16~26周)56例和妊娠晚期(28~38周)38例孕妇血浆中含量。结果:早孕组23例男胎血浆标本中有22例检测到DYS14基因,其平均浓度为19.1 GE/ml,实测浓度范围为12.8~49.6 GE/ml;中孕组中男胎血浆标本32例均检测到DYS14基因,其平均浓度为67.4 GE/ml,实测浓度范围为41.4~126.7 GE/ml;晚孕组20例均检测到DYS14基因,其平均浓度为162.2 GE/ml,实测浓度范围为108.5~389.3 GE/ml;组间不同浓度比较差异有统计学意义(P<0.05)。孕女胎产妇血浆检测DYS14基因结果均为阴性。仅1例随访结果与实验判断结果不一致。结论:该检测方法稳定、准确,可应用于血浆cffDNA分析和产前诊断。
Objective: To quantificationally analyze the normal range of cell-free fetal DNA( cffDNA) concentration in peripheral blood of pregnant women during different trimesters of pregnancy,and provide basic data for applying non- invasive prenatal diagnosis( NIPD). Methods: Real-time fluorescent quantitative PCR was used to detect DYS14 gene and quantificationally analyze plasma concentrations of cffDNA in pregnant women during the first trimester of pregnancy( early pregnancy group,5- 14 gestational weeks,47women),the second trimester of pregnancy( middle pregnancy group,16- 26 weeks,56 women) and the third trimester of pregnancy( late pregnancy group,28- 38 gestational weeks,38 women). Results: Among 23 male fetal plasma samples in early pregnancy group,22samples were found with DYS14 gene,the average concentration was 19. 1 GE /ml,the actual concentration was 12. 8- 49. 6 GE /ml; DYS14gene was found in 32 male fetal plasma samples in middle pregnancy group,the average concentration was 67. 4 GE /ml,the actual concentration was 41. 4- 126. 7 GE /ml; DYS14 gene was found in 20 male fetal plasma samples in late pregnancy group,the average concentration was 162. 2 GE /ml,the actual concentration was 108. 5- 389. 3 GE /ml; there was statistically significant difference among the three groups( P <0.05). DYS14 gene was not found in female fetal plasma samples; the follow-up result and experimental result were inconsistent in only one patient. Conclusion: The program can be used as an effective method in plasma cffDNA analysis and prenatal diagnosis with the advantages of stability and accuracy.
出处
《中国妇幼保健》
CAS
北大核心
2014年第20期3333-3335,共3页
Maternal and Child Health Care of China
