| 摘要: |
| 唐氏综合征作为一种常染色体疾病，对其进行产前筛查具有十分重要的临床意义。近年来，血清学筛查标记物的临床应用越来越广泛，虽然在一定程度上提高了唐氏综合征的检出率，但唐氏综合征检出率仍只能达到60%左右。而通过新一代测序技术进行直接核酸分析，筛查胎儿染色体非整倍体检测，能更精确地检出唐氏综合征患儿。本文对唐氏综合征产前筛查手段的历史进行了回顾和分析，对现行的筛查技术，特别是新型血清标记物和新一代测序技术的原理、筛查性能等进行了综述。 |
| 关键词: 唐氏综合征 产前诊断 生物学标记 DNA序列分析 |
| DOI：10.3724/SP.J.1008.2014.00089 |
| 投稿时间：2013-08-28修订日期：2013-10-29 |
| 基金项目: |
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| Prenatal screening for Down’s syndrome: recent progress |
| LIU Xiao, ZHONG Ren-qian* |
(Department of Laboratory Medicine, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China
*Corresponding author.) |
| Abstract: |
| Down’s syndrome is an autosomal disease and its prenatal screening is particularly important. In recent years, clinical application of serological screening markers has been widely used, which improved the detection rate of Down’s syndrome, but still remained at about 60%. The new generation of sequencing technology for direct analysis of nucleic acids, which can be used for fetal chromosomal aneuploidy detection, can detect Down’s syndrome more accurately. In this paper, we compared the prenatal screening methods for Down’s syndrome in recent decades, and reviewed the new screening markers based on proteomics and bioinformatics technology for clinical application. |
| Key words: Down syndrome prenatal diagnosis biological markers DNA sequence analysis |
