快速产前诊断技术用于染色体病检测的发展趋势与挑战
摘要
产前诊断是出生缺陷防控的重要手段。随着分子遗传学的发展，快速产前诊断技术，如荧光原 位杂交技术（FISH）、比较基因组杂交技术（CGH）、荧光定量聚合酶链反应技术（QF-PCR）、多重连接 探针扩增技术（MLPA）、染色体微阵列分析技术（CMA）、数字 PCR 等逐渐成熟，已成为产前诊断常用的 检测手段，尤其是对于非整倍体的检测。然而，快速产前诊断技术均存在一定的局限性，尚不能完全取代传统 核型分析。此外，高通量测序技术，如拷贝数变异测序 (CNV-seq)、全基因组无细胞 DNA (cfDNA) 和全外显 子组测序 (WES) 等，具有整体成本低、准确度高且可发现更多的或新的突变等，给快速产前诊断技术带来挑战， 但高通量测序技术可检测出未知的突变及遗传咨询尚未成熟，可能导致孕妇焦虑和抑郁等。因此，目前快速产 前诊断技术依然是重要的检测手段。参考
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