染色体综合征的产前诊断分子技术研究进展

各类染色体病患者大多有智力缺陷等严重症状 ,目前尚无有效的治疗措施 ,进行产前诊断及时终止妊娠是防止该病发生的有效预防措施 ;经典的细胞遗传学核型分析是检验染色体病的金标准 ,但此方法有实验周期长、费力、微小染色体改变不能检出等缺点 ;随着分子生物学的飞速发展 ,许多新的方法和技术不断应用于染色体综合征的产前诊断 ,这些新的方法和技术各具有各自的优点 ,都具快速、敏感、特异等特点 ,虽这些分子生物学实验方法在临床某些方面不稳定等缺点 ,但改进后会大力推进染色体综合征的产前诊断速度和准确性

The advances in research on prenatal molecular diagnostic technique of chromosome syndrome

Most of patients with various kinds of chromosome diseases have serious symptoms, such as intelligent deficiency, for which there is no effective therapy yet now. Therefore the prenatal diagnosis and termination of pregnancy in time is a preventive measure for these diseases. The classical cytogenetic karyotype analysis is a gold indication to chromosome diseases, but the technique has such disadvantages as long laboratory cycle, strenousness, failure to detection of minimal change in chromosome and so on. With the fast development of molecular biology, many new molecular techniques (including FISH, PCR, PRINR, SKY, and so on) have been applied to detect chromosome diseases. As compared with the cytogenetic karyotype analysis, these new methods and techniques have some advantages, that is, they are faster and more sensitive and specific. In spite of some disadvantages in these new molecular biological methods and techniques such as instabilities in some aspect in clinic, these new methods and techniques will greatly accelerate the prenatal diagnesis of chromosome syndrome and increase the accuracy of diagnosis, after being improved.