新生儿先天畸形分子诊断学研究进展

Advanced molecular technologies for the diagnosis of congenital malformation in neonates

摘要:

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。

Abstract:

Congenital malformation is one of the most frequent causes of infant death in western countries and major cities in China. Though genetic screening of newborns remains a hot issue and concern, the mortality rate associated with birth defects has not been significantly reduced over the past 20 years. Many genetic diseases manifest symptoms during the first 28 days of life, but full clinical symptoms might not be evident in newborns. Moreover, genetic aberrations is highly heterogeneous. These complicated factors lead to the establishment of diagnosis based on nonspecific or obscure symptoms. Recently developed array comparative genomic hybridization (CGH) and next generation sequencing (NGS) techniques with efficient high-resolution allow to screening of the entire genome for DNA copy number variants and sequencing respectively. These new and powerful tools can shorten the differential diagnosis process and quicken to movement towards targeted treatment and genetic and prognostic counseling.