Hahn Sinuhe, Jackson Laird G, Kolla Varaprasad, Mahyuddin Aniza P, Choolani Mahesh
University Women's Hospital/Department of Biomedicine, Hebelstrasse 20, CH 4031 Basel, Switzerland.
Expert Rev Mol Diagn. 2009 Sep;9(6):613-21. doi: 10.1586/erm.09.43.
The application of recent technical developments, such as digital PCR or shot-gun sequencing, for the analysis of cell-free fetal DNA, have indicated that the long-sought goal of the noninvasive detection of Down syndrome may finally be attained. Although these methods are still cumbersome and not high throughput, they provide a paradigm shift in prenatal diagnosis, as they could effectively pronounce the end of invasive procedures, such as amniocentesis or chorionic villous sampling for the detection of such fetal anomalies. However, it remains to be determined how suitable these approaches are for the detection of more subtle fetal genetic alterations, such as those involved in hereditary Mendelian disorders (e.g., thalassemia and cystic fibrosis). New technical developments, such as microfluidics and reliable automated scanning microscopes, have indicated that it may be possible to efficiently retrieve and examine circulating fetal cells. As these contain the entire genomic complement of the fetus, future developments may include the noninvasive determination of the fetal karyotype.
诸如数字PCR或鸟枪法测序等近期技术进展在游离胎儿DNA分析中的应用表明，长期以来寻求的无创检测唐氏综合征的目标或许最终能够实现。尽管这些方法仍然繁琐且并非高通量，但它们在产前诊断方面带来了范式转变，因为它们可能会有效地宣告侵入性检测程序（如用于检测此类胎儿异常的羊膜穿刺术或绒毛取样）的终结。然而，这些方法对于检测更细微的胎儿基因改变（例如那些与遗传性孟德尔疾病相关的改变，如地中海贫血和囊性纤维化）的适用性仍有待确定。诸如微流控技术和可靠的自动扫描显微镜等新技术进展表明，高效检索和检查循环胎儿细胞或许是可行的。由于这些细胞包含胎儿的完整基因组，未来的进展可能包括无创确定胎儿核型。
