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目的探讨选择性扩增孕妇血浆中游离胎儿DNA在21-三体综合征中的检测效果及临床价值。方法选取2013年1-12月在该院进行孕检的健康孕中期孕妇42例(对照组)以及21-三体综合征高危孕妇21例(观察组),选择性扩增孕妇血浆中游离胎儿DNA,对比两组研究对象的检测结果。结果 21-三体综合征高危孕妇的3-磷酸甘油脱氢酶(GAPDH)均值是(3.08±1.67)×10 copy/ml,孕周相同健康孕中期孕妇的GAPDH均值是(4.28±1.36)×10 copy/ml,21-三体综合征高危孕妇显著低于健康孕中期孕妇(P<0.05);血浆DNA含量对比方面,与对照组比较,21-三体综合征高危孕妇胎儿的DNA拷贝数以及相对含量显著上升,差异有统计学意义(P<0.05)。结论选择性扩增孕妇血浆中胎儿游离DNA在检测21-三体综合征方面的灵敏度以及特异性较为理想。
Objective To explore the detection effect and clinical value of selective amplification of fetal DNA in pregnant women in 21-trisomy syndrome. Methods Forty-two healthy pregnant women (control group) and 21 high-risk pregnant women with trisomy 21 (observation group) were enrolled in this study. DNA, comparing the test results of two groups of subjects. Results The average GAPDH of pregnant women with high risk of trisomy 21 was (3.08 ± 1.67) × 10 copy / ml. The average GAPDH of healthy pregnant women with the same gestational age was (4.28 ± 1.36) × Trisomy 10 syndrome at high risk of pregnant women was significantly lower than the healthy second trimester pregnant women (P <0.05); plasma DNA content comparison, compared with the control group, 21 trisomy syndrome at high risk of fetal DNA copy number And the relative content increased significantly, the difference was statistically significant (P <0.05). Conclusion The sensitivity and specificity of selective amplification of fetal DNA in pregnant women in detecting 21-trisomy syndrome are ideal.