Study on Early Genetic Screening and Precise Strategy of Neonatal Critical Illness

Reducing the rate of neonatal death and disability is an important part of health education in China, and genetic diseases are an important cause of neonatal death. At present, with the development of life support platform technology, the treatment level of critically ill newborns has been rapidly improved. How to quickly diagnose and early precise intervention is the key to further break through the diagnosis and treatment of genetic diseases. Based on the "neonatal genome project" carried out in the early stage, the research group based on the genetic diagnosis results of over 10000 cases of neonatal critical illness cohort, studied the genetic disease spectrum of neonatal critical illness in line with the actual situation in China. In terms of detection technology, based on the second-generation sequencing technology, we established a critical illness screening gene sequencing combination including 300 genes; In the aspect of data analysis, an intelligent analysis process integrating clinical phenotype and gene sequencing data was established; In terms of clinical diagnosis and treatment, we cooperated with 5 maternity and children's hospitals in Shanghai to carry out multi center clinical verification, and formed the implementation plan of early universal genetic screening for neonatal critical illness. Through this project, we will carry out genetic disease screening research on neonatal critical diseases, focus on typical clinical manifestations such as encephalopathy, immunodeficiency, metabolic diseases, and carry out molecular autopsy on neonatal death cases to identify potential genetic causes, so as to provide basis for the research of corresponding early precise intervention strategies, and achieve the purpose of reducing neonatal death and disability rate.

Inclusion criteria

• Postnatal age less than 100 days;
• Perinatal death after 20 weeks of gestation (more than 500 g)
• Can be retained biological samples for genetic screening;
• Biological parent or guardian's informed consent.

Exclusion criteria

• Reluctance of parents to use genetic sequencing data for subsequent research;
• Parents under 18 years of age or incapacitated for decision-making;
• subjects older than 100 days;
• Perinatal death less than 20 weeks of gestation or weight less than 500 g;
• Inherited metabolic diseases with chromosomal abnormalities;
• Multiple pregnancies;
• Lack of access to biological samples from which DNA can be extracted;
• Failure to sign informed consent.