AB025. Genome technology applications for perinatal diagnosis and fetal medicine in China

Abstract: China has nearly one million new born errors with inherited diseases or chromosomal abnormalities in its 20 million new born populations each year. It is a big challenge to avoid new born error with applying various new technologies in prenatal diagnosis. Rapid progress of genome technology in recent years has made it possible to diagnose subtle genetic abnormalities in a clinical setting on routine basis. These technology advances allowed for detailed genotype-phenotype correlations and the identification of the genetic basis of many congenital anomalies. Besides gene polymorphisms of folic acid detection, mutation analysis of thalassemia, classical chromosome analysis, and fluorescence in situ hybridization, etc. classical genetic testings, many new technologies were introduced to the clinic of prenatal and fetal medicine, more advanced technology such as CGH microarray analysis, exome and whole-genome sequencing (WGS) on pre- and postnatal samples of cell-free DNA has revolutionized the field of prenatal diagnosis. Especially, next generation sequencing (NGS) has rapidly adapted to prenatal diagnosis, non-invasive prenatal test (NIPT) was successfully applied into clinic with about half million of pregnant women received NIPT diagnosis in the analysis of aneuploidies and high risk for trisomy 13, 18 and 21 with successful detection rate of great than 99% so far. Currently Chinese central government already specified more than 100 hospitals to utilizing NIPT for high risk planeload fetal screening. Incorporation of these technologies in perinatal and fetal medicine has demonstrated that increased power of detecting diseases in prenatal diagnosis. It is clear that new genome technologies such as CGH array, whole-genome analysis and NIPT by NGS etc., offered more possibilities to identify various inherited diseases, genetic mutation or metabolism errors in new born population and provide more solutions to disease prevent and treatment in the field.

Keywords: Next generation sequencing (NGS); non-invasive prenatal test; whole-genome sequencing (WGS); new born; prenatal diagnosis