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中国每年约有3万唐氏综合征患儿出生,在各种出生缺陷中排第三位,是最常见的染色体异常。为了减少唐氏综合征患儿的出生,近年绒毛、羊水、脐血介入性产前诊断已广泛开展,使部分唐氏综合征得到产前诊断,并行治疗性引产,降低了唐氏综合征患儿的出生率,但侵入性手术操作的风险和诊断结果的漫长等待亦给孕妇造成了巨大的心理压力。因此,植入前产前诊断、分离孕妇外周血中胎儿有核红细胞、分离孕妇血浆中胎儿游离DNA、宫颈管内滋养细胞等新技术正在展开研究,已经成功地无创性获取胎儿细胞或DNA 样本。荧光定量PCR、荧光原位杂交技术(FISH)、引物原位标记技术(PRINS)、微阵列-比较基因组杂交等分子生物学技术等为快速、准确诊断唐氏综合征开辟了新前景。现就唐氏综合征产前诊断基础性研究及临床应用的进展情况作一综述。
About 30,000 children with Down’s syndrome are born each year in China, ranking third among all birth defects, the most common chromosomal abnormality. In order to reduce the birth of children with Down’s syndrome, in recent years, villi, amniotic fluid, umbilical cord blood interventional prenatal diagnosis has been widely carried out, so that part of Down’s syndrome was prenatal diagnosis, concurrent treatment of induced labor, reducing Down Syndrome However, the long waiting times for the risks of invasive surgical procedures and diagnostic results have also caused tremendous psychological pressure on pregnant women. Therefore, prenatal diagnosis, separation of fetal peripheral blood of pregnant women, the separation of fetal DNA in pregnant women, cervical trophoblast cells and other new technologies are being studied, has been successfully noninvasively obtained fetal cells or DNA samples. Fluorescence quantitative PCR, fluorescence in situ hybridization (FISH), primer in situ labeling (PRINS), microarray-comparative genomic hybridization and other molecular biology techniques have opened up new prospects for the rapid and accurate diagnosis of Down Syndrome. Now on the Down’s syndrome prenatal diagnosis of basic research and clinical application of the progress made are reviewed.