Bui The-Hung, Blennow Elisabeth, Nordenskjöld Magnus
Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institute, Karolinska Hospital, Stockholm, Sweden.
Best Pract Res Clin Obstet Gynaecol. 2002 Oct;16(5):629-43. doi: 10.1053/beog.2002.0327.
The technologies developed for the Human Genome Project, the recent surge of available DNA sequences resulting from it and the increasing pace of gene discoveries and characterization have all contributed to new technical platforms that have enhanced the spectrum of disorders that can be diagnosed prenatally. The importance of determining the disease-causing mutation or the informativeness of linked genetic markers before embarking upon a DNA-based prenatal diagnosis is, however, still emphasized. Different fluorescence in situ hybridization (FISH) technologies provide increased resolution for the elucidation of structural chromosome abnormalities that cannot be resolved by more conventional cytogenetic analyses, including microdeletion syndromes, cryptic or subtle duplications and translocations, complex rearrangements involving many chromosomes, and marker chromosomes. Interphase FISH and the quantitative fluorescence polymerase chain reaction are efficient tools for the rapid prenatal diagnosis of selected aneuploidies, the latter being considered to be most cost-effective if analyses are performed on a large scale. There is some debate surrounding whether this approach should be employed as an adjunct to karyotyping or whether it should be used as a stand-alone test in selected groups of women.
为人类基因组计划开发的技术、由此带来的可用DNA序列的近期激增以及基因发现和表征速度的不断加快，都促成了新的技术平台，这些平台拓宽了可进行产前诊断的疾病范围。然而，在开展基于DNA的产前诊断之前，确定致病突变或连锁遗传标记的信息量仍然很重要。不同的荧光原位杂交（FISH）技术为阐明传统细胞遗传学分析无法解决的染色体结构异常提供了更高的分辨率，这些异常包括微缺失综合征、隐匿或微小重复及易位、涉及多条染色体的复杂重排以及标记染色体。间期FISH和定量荧光聚合酶链反应是快速产前诊断特定非整倍体的有效工具，如果大规模进行分析，后者被认为最具成本效益。对于这种方法应作为核型分析的辅助手段，还是应在特定女性群体中作为独立检测方法使用，存在一些争议。
