染色体微缺失/微重复是先天缺陷重要病因之一，产前诊断是有效的干预手段。ArrayCGH技术尽管可实现基因组高分辨率检测，但存在价格昂贵、技术理论单一、体系封闭等缺陷。前期研究中，我们基于高通量平行测序技术(MPS)超高通量DNA单分子的随机测序原理，建立了一种可检测微缺失/微重复的低深度平行测序技术(LD-MPS)；采用50bp双向、1X测序深度策略,对10例染色体微缺失/微重复胎儿样本进行LD-MPS检测，预实验取得初步成功。本研究拟进一步系统分析论证该技术可行性，通过扩大检测标本量、优化完善实验流程和系统设置，以提高检测效果并降低检测成本；将采用前瞻性临床研究策略，评估该技术在先天缺陷产前遗传学诊断中应用价值。目前未见LD-MPS进行产前染色体微缺失/微重复诊断的系统研究报道，本研究具有较强创新性，将可能为先天缺陷的防治提供一种高效、廉价、开放的新型遗传学检测技术。

Chromosome micro-deletion/duplication is an important cause of human birth defects. Prenatal genetic diagnosis is the most efficient prevention strategy. Though the current arrayCGH systems can efficiently detect chromosome micro-deletion/duplication, they were both expensive and system closed monotechnics, reducing their clinilcal value. Low-depth Massive Parallel Seqencing(LD-MPS) was supposed to be able to diagnose chromosome micro-deletion/duplication according to it's unique sequencing features. In our previous study, we performed LD-MPS analysis on ten samples of micro-deletion/duplication at a sequencing condition of bi-directional, 50bp length,1X depth. The preliminary results suggested LD-MPS will be a promising micro-deletion/duplication detection technology with further improvements. Based on these date, we will systematically improve the detection efficiency and decrease the test cost by adjuting the experiment flow and date analysis modeling in the next step. We will also investigate the feasibility and clinical value of LD-MPS in the micro-deletion/duplication detection through prospective clinical study. So far there is on research report on prenatal diagnosis of chromosome micro-deletion/duplication using LD-MPS, thus this study have remarkable creativity and may provide a powerful inexpensive technique for the prevention of birth defect due to micro-deletion/duplication.