The Application of Targeted Sequencing in the Diagnosis of Neonatal Diseases

As health care has improved, genetic diseases have become the leading cause of infant death in hospitalized neonatal. However, due to extensive clinical and genetic heterogeneity, differential diagnosis of all known genetic disorders is often a challenging and lengthy process. Current clinical potential genetic diagnosis of ill baby often undergo repeated consulting, several times repeated invasive testing and/or metabolic examination, and efficiency is not high, which lead to children's and family's heavy mental pressure and economic burden.

Targeted sequencing, also known as next Generation sequence (NGS), has the advantages of fast sequencing, wide sequencing range, high sensitivity, high accuracy and low cost compared with traditional sequencing technology (Sanger sequencing). NGS has been widely used in tumor diseases, prenatal screening, drugs and the diagnosis of various genetic diseases. In prenatal screening, targeted sequencing is gradually used to detect free fetal DNA in pregnant women's peripheral blood, with an accuracy of 95%, which is much better than traditional amniocentesis karyotype analysis and improves the detection rate of secondary birth defects. Compared with traditional methods, NGS can provide diagnosis and classification, rich genetic disease gene spectrum, accurate direction for treatment, as well as the predict the risk of the next generation of children of the same disease. Therefore, targeted sequencing technology has great advantages for the diagnosis of children and prevention of newborn birth defect diseases.

To evaluate the efficacy of NGS in the screening and diagnosis of neonatal disease, the investigator lauched the "Budding Action". This study is to evaluate the application of NGS in the diagnosis of neonatal disease.