Protocol of the China Neonatal Genomes Project: an observational study about genetic testing on 100,000 neonates

Abstract

Genetic diseases are caused by gene variants or chromosomal anomalies. Common genetic diseases include congenital defects, chromosomal disorders, and metabolic disorders. Approximately 5% of newborns will be diagnosed with a genetic disease prior to until 25 years of age (1). Genetic diseases during the neonatal period can influence neonatal mortality (2). The neonatal period (the first 4 weeks of a child’s life) is the most vulnerable time for a child’s survival. According to data from the World Health Organization, the global average neonatal mortality rate was 17 per 1,000 live births in 2019 (3). Kingsmore et al. (4) found that approximately 21% of deceased infants were diagnosed with genetic diseases. It has been reported that genetic diseases impose a substantial economic burden on healthcare system (5,6). Moreover, genetic diseases cause significant psychological burdens for patients and their families. Study Protocol