Abstract: China is a country suffering from high rate, 5.6%, of birth defects. Birth defects as one of the most commom causes of infant death, has risen to the second cause of infant death in 2011 from the fourth in 2000. In 2011, 19.1% infant deaths were from birth defects. Genetic factor is one of the most important factors of birth defects. With the rapid development of genomics research and genetic testing platform, the genetic testing has been more widely used in the prevention of birth defects. In this paper, we discuss the application of genomic technologies, as well as its importance, in the prevention of birth defects as for the three levels′ system of birth defects prevention.

Key words: Birth defects, Congenital abnormalities, Genomics, Sequence analysis, Universal precautions