Early Genetic Screening and Precise Intervention Strategies for Critical Illness in Newborns and Stillbirths in China

What this Trial Is About

Researchers are investigating an early genetic screening program for critical illnesses in newborns and stillbirths in China. The study aims to develop precise intervention strategies to improve the diagnosis and treatment of hereditary critical illnesses, which are a significant cause of neonatal death and disability. This observational study builds on prior research analyzing genetic data from over 10,000 critically ill newborns to better understand the genetic disease spectrum relevant to the Chinese population. The study uses advanced second-generation sequencing technology to screen for mutations in a panel of 300 genes associated with neonatal critical illnesses. It integrates clinical symptoms with genetic data through intelligent analysis. Participants include infants admitted to Neonatal Intensive Care Units and stillbirths from member hospitals. The study involves multi-center clinical verification and molecular autopsy for neonatal death cases to identify genetic causes and support early intervention plans. Participants will undergo genomic sequencing, with results disclosed in sessions discussing family history, newborn screening, medical history, physical exams, and sequencing outcomes. Researchers will measure gene mutations within three months after sample receipt. The study involves collecting biological samples suitable for genetic analysis, and participation requires informed consent. The goal is to reduce neonatal death and disability by enabling early, accurate diagnosis and tailored care strategies.

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