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从孕妇外周血中分离胎儿细胞一直是遗传病非损伤性产前诊断的主要思路与探索途径。尽管在孕妇外周血中服地细胞的富集，鉴定，和遗传病的非损伤性产前诊断等方面取得了一些重要的进展，但是利用孕妇外周血中的胎儿细胞进行遗传病非损伤性产前诊断的主要障碍依然是胎儿细胞的富集效率不高，而过高的的母体背景影响检测胎儿特异等位基因。最近发现在孕妇的血浆中存在胎儿DNA，这一发现为非损伤性产前基因诊断开辟了新途径。我们结合煮沸法与硅法，建立了一种有效的，简便的，经济的从血浆中提取DNA的方法，通过调整PCR系统组成，增加循环次数，成功地从母体血浆中扩增出胎儿特异的SRY基因，同时采取严格的防污染措施，避免了假阳性或假阴性结果。我们的结果表明，应用我们建立的血浆DNA提取方法与调整的PCR系统，在孕早期可以准确地确定胎儿的性别，这对于性连锁疾病的非损伤性产前诊断具有重要意义。我们的工作为我国非损伤性产前诊断研究的开展与深入打下基础。
Isolation of fetal cells from peripheral blood of pregnant women has been the main idea and exploration path of noninvasive prenatal diagnosis of genetic diseases. Although some important advances have been made in the enrichment and identification of terrestrial cells in peripheral blood of pregnant women and in non-invasive prenatal diagnosis of genetic diseases, fetal cells in pregnant women’s peripheral blood are used for non-invasive prenatal The main obstacle to diagnosis is still the inefficient accumulation of fetal cells, while overly high maternal background affects the detection of fetal specific alleles. The recent discovery of fetal DNA in the plasma of pregnant women has opened up new avenues for non-invasive prenatal genetic diagnosis. We combine boiled method and silicon method to establish an efficient, simple and economical method of extracting DNA from plasma. By adjusting the composition of PCR system and increasing the number of cycles, we successfully amplified fetal-specific SRY gene, while taking strict anti-pollution measures to avoid false positive or false negative results. Our results show that using our established plasma DNA extraction method and adapted PCR system, we can accurately determine the sex of the fetus in early pregnancy, which is of great importance for the non-invasive prenatal diagnosis of sex-linked diseases. Our work lays the foundation for the development of our non-invasive prenatal diagnosis research.