| 摘要: |
| 孕妇外周血中胎儿游离DNA的发现，为无创性产前诊断开辟了一条新途径。检测孕妇血浆中特异的胎儿DNA序列已被用于胎儿性连锁疾病鉴定、RhD血型检查和多种单基因遗传病的产前诊断；游离DNA水平的变化还可被用作某些妊娠相关疾病如先兆子、早产和胎儿染色体疾病的临床诊断新指标。本文对母体外周血中胎儿游离DNA的生化特征及其临床应用研究，进行了总结和分析。 |
| 关键词: 胎儿游离DNA 游离核酸 无创性产前诊断 基因诊断 孕妇血浆 |
| DOI：10.3724/SP.J.1008.2009.0442 |
| 投稿时间：2008-09-27修订日期：2009-02-16 |
| 基金项目:国家科技支撑计划（2006BAI05A05）. |
|
| Prenatal diagnosis value of free fetal DNA in maternal blood |
| WANG Wen-bo1,2, ZHANG Yi2 *,SUN Shu-han2 * |
| (1. No.10 Student Team, Second Military Medical University, Shanghai 200433, China;2. Department of Medical Genetics, College of Basic Medical Sciences, Second Military Medical University, Shanghai 200433) |
| Abstract: |
| The discovery of circulating fetal DNA paves a new way for non-invasive prenatal diagnosis. Examining the specific fetal DNA sequence of the circulating fetal DNA has been used for prenatal diagnosis of sex-linked disorders, fetal rhesus D blood typing and single gene inheritance disease. The variation of the circulating DNA levels can also be used for diagnosis of preeclampsia, premature delivery, and fetal chromosome disorders. This paper aims to review the biochemistry characters and clinical application of the circulating fetal DNA in maternal peripheral plasma. |
| Key words: cell-free fetal DNA circulating nucleic acid non-invasive prenatal diagnosis gene diagnosis maternal blood |
