论文部分内容阅读
在西方国家及中国主要一线城市如北京、上海等,出生缺陷已成为婴幼儿死亡的主要原因之一。虽然对于出生缺陷筛查的关注不断提升,但是由于出生缺陷导致的新生儿病死率近20年并没有显著的下降。一方面,这些疾病的全部表型并不都能在新生儿期被发现,另一方面,此类遗传性疾病具有高度的异质性。这都导致在新生儿期对遗传性疾病进行诊断具有很高的难度。近来发展起来的高通量的微阵列比较基因组杂交技术、第二代测序技术,可以对全基因组进行拷贝数变异和序列的检测。这些新的、强大的科技手段使得遗传性疾病在新生儿期的诊断成为可能,并能显著缩短检查时间,指导干预措施、遗传咨询及产前诊断。
Birth defects have become one of the major causes of infant and child death in western countries and major cities in China such as Beijing and Shanghai. Although there is increasing interest in screening for birth defects, the neonatal mortality rate due to birth defects has not decreased significantly over the past 20 years. On the one hand, not all phenotypes of these diseases can be found in the neonatal period, on the other hand, such genetic diseases have a high degree of heterogeneity. This has led to the diagnosis of genetic diseases in the neonatal period has a very high degree of difficulty. Recently developed high-throughput microarray comparative genomic hybridization, second-generation sequencing technology, the genome-wide copy number variation and sequence detection. These new and powerful scientific and technological tools make it possible to diagnose genetic diseases in the neonatal period, as well as significantly reduce examination time, direct interventions, genetic counseling and prenatal diagnosis.