单细胞PEP-PCR技术无创性产前诊断胎儿性别

Noninvasive prenatal diagnosis of fetal sex by unicellular PEP-PCR method

目的:探讨无创性产前基因诊断胎儿性别新方法的科学性和可行性。方法:从273例孕妇外周血中分离出单个胎儿细胞,应用引物延伸预扩增(primer extension preamplification,PEP)方法预扩增单个细胞的基因组,再用PCR方法检测扩增产物中的SRY基因以产前诊断胎儿性别。结果:153例男胎标本中该产前诊断方法检测到SRY基因的有149例,120例女胎样本中除1例外均未检测出SRY基因。该产前诊断方法的敏感性为97.39％,特异性为99.17％,正确率为98.17％。结论:无创性产前基因诊断胎儿性别的新方法具有良好的科学性和可行性,并为其他疾病的无创性产前诊断研究奠定基础。

Objective: To explore the scientificity and feasibility of the new method of noninvasive prenatal gene diagnosis of fetal sex. Methods: Single fetal cells were isolated from 273 maternal blood samples. The genome of single cells were preamplified by PEP. SRY genes were analyzed by PCR method. Results: The SRY genes of 149 samples were detected by new method among 153 male samples. 119 of 120 female samples were proved negative. The sensitivity and specificity of new method were 97.39% and 99. 17% respectively, the correct rate was 98. 17%. Conclusion: New method of prenatal diagnosis of fetal sex is scientific and feasible and is the basis of other research of noninvasive prenatal diagnosis.