Department of Genetics, Fundación Jiménez Díaz-Capio, Avda. Reyes Catolicos, 2. 28040, Madrid, Spain.
Expert Rev Mol Diagn. 2010 Mar;10(2):197-205. doi: 10.1586/erm.09.86.
Owing to the risk of fetal loss associated with prenatal diagnostic procedures, the last decade has seen great developments in noninvasive prenatal diagnosis (NIPD). The discovery of circulating cell-free fetal DNA (ccffDNA) in maternal plasma has opened new lines of research in alternative technologies that may facilitate safe diagnosis. Because ccffDNA represents only a small fraction of all DNA present in maternal plasma and it is masked by the background of maternal DNA, the scope of NIPD was, until recently, limited to the study of paternal DNA sequences (i.e., detection of SRY sequences, RhD gene in RhD-negative women and paternally inherited single-gene disorders, such as cystic fibrosis and Huntington's disease). However, new discoveries and technology are making NIPD a real option for patients and providing for an array of clinical applications, such as molecular studies in high-risk families, general screening and pregnancy management.
由于产前诊断程序相关的胎儿丢失风险，非侵入性产前诊断（NIPD）在过去十年中取得了巨大进展。在母体血浆中发现循环无细胞胎儿 DNA（ccffDNA）为可能促进安全诊断的替代技术开辟了新的研究方向。由于 ccffDNA 仅代表母体血浆中存在的所有 DNA 的一小部分，并且被母体 DNA 的背景所掩盖，因此直到最近，NIPD 的范围仅限于研究父系 DNA 序列（即检测 SRY 序列、RhD 阴性女性中的 RhD 基因和父系遗传的单基因疾病，如囊性纤维化和亨廷顿病）。然而，新的发现和技术正在使 NIPD 成为患者的真正选择，并为一系列临床应用提供支持，例如高危家庭的分子研究、一般筛查和妊娠管理。
