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对特定孕妇开展宫内诊断可以有效降低新生儿的出生缺陷率。常规的非侵入性、侵入性宫内诊断方法如影像学检查,绒毛取样、羊膜腔穿刺、脐带血穿刺获取胎儿组织、细胞行染色体检查、FISH检测等手段存在各自的局限性。微芯片技术、孕妇外周血浆游离DNA检测技术、新一代高通量测序技术的迅速发展,可以在一定程度上与传统手段形成有效互补,使得宫内诊断的发展呈现出无创化与分子化的趋势。
Intrauterine diagnosis of specific pregnant women can effectively reduce the birth defect rate of newborns. Conventional non-invasive and invasive methods of intrauterine diagnosis such as imaging examination, villus sampling, amniocentesis, umbilical cord blood to obtain fetal tissue, cell line chromosome examination, FISH detection methods have their own limitations. Micro-chip technology, peripheral plasma free DNA testing of pregnant women, the rapid development of a new generation of high-throughput sequencing technology can be effectively complemented with traditional methods to a certain extent, making the development of intrauterine diagnosis showing a non-invasive and molecular trend .