Application of Transcriptome Sequencing Combined With Family-Based Whole Genome Sequencing in Improving Precise Diagnosis of Critically Ill Newborns in Northeast China

Launched by THE FIRST HOSPITAL OF JILIN UNIVERSITY · May 18, 2025

Keywords

ClinConnect Summary

This clinical trial is focused on improving the diagnosis of genetic diseases in critically ill newborns, particularly those suffering from a serious condition called necrotizing enterocolitis. The researchers aim to use advanced genetic testing methods to better understand the causes of these illnesses when traditional tests do not provide answers. By analyzing the genetic information from these newborns, the study hopes to increase the chances of finding a diagnosis, which can lead to personalized treatment and better outcomes for the babies involved.

To be eligible for this study, babies must be under three months old and suspected of having a genetic disease based on their symptoms or family history. Parents or legal guardians must also provide consent for their child to participate. Throughout the study, participants will undergo various genetic tests, including rapid sequencing, to help identify any underlying genetic issues. It's important to note that the study is not yet recruiting participants, but once it starts, it will involve several medical centers and aims to include about 1,000 critically ill newborns over three years.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Critically ill newborns under the age of 3 months. Suspected of having a genetic disease based on clinical manifestations (such as abnormal phenotypes) or family history.
• • Parents or legal guardians provide informed consent to participate in the study and agree to undergo rapid/ultra-rapid WGS sequencing. In cases of negative results, further transcriptome sequencing will be conducted.
• Exclusion Criteria:
• • The principal investigator deems the participant unsuitable for the study. Diseases caused by pregnancy, perinatal infection, ischemia, hypoxia, and other non-genetic factors.
• • Inability to fully cooperate with the study, affecting data integrity. The child already has a genetic diagnosis that fully explains the disease onset.