Objective To investigate the distribution of aetiologies and outcomes in neonates with prolonged neonatal jaundice.
Design An observational study.
Setting Multiple tertiary centres from the China Neonatal Genome Project.
Patients Term infants with jaundice lasting more than 14 days or preterm infants with jaundice lasting more than 21 days were recruited between 1 June 2016 and 30 June 2020.
Main outcome measures Aetiology and outcomes were recorded from neonates with prolonged unconjugated hyperbilirubinaemia (PUCHB) and prolonged conjugated hyperbilirubinaemia (PCHB).
Results A total of 939 neonates were enrolled, and known aetiologies were identified in 84.1% of neonates (790 of 939). Among 411 neonates with PCHB, genetic disorders (27.2%, 112 of 411) were the leading aetiologies. There were 8 deceased neonates, 19 neonates with liver failure and 12 with neurodevelopmental delay. Among 528 neonates with PUCHB, a genetic aetiology was identified in 2 of 219 neonates (0.9%) who showed disappearance of jaundice within 4 weeks of age and in 32 of 309 neonates (10.4%) with persistent jaundice after 4 weeks of age. A total of 96 of 181 neonates (53.0%) who received genetic diagnoses had their clinical diagnosis modified as a result of the genetic diagnoses.
Conclusion Known aetiologies were identified in approximately 80% of neonates in our cohort, and their overall outcomes were favourable. Genetic aetiology should be considered a priority in neonates with PCHB or the persistence of jaundice after 4 weeks of age. Moreover, genetic data can modify the clinical diagnosis and guide disease management, potentially improving outcomes.
Data availability statement
Data are available upon reasonable request. Data are available upon reasonable request.The data are available on request with the corresponding author.
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TX and JW contributed equally.
Contributors The data analyses were conducted by TX, JW and WZ. Concept and design—TX, JW, HW, LY and WZ. Acquisition, analysis or interpretation of data—TX, WZ, HW, HM, XD, YL and BW. Drafting of the manuscript—TX, WZ and JW. Critical revision of the manuscript for important intellectual content—TX, WZ, HW, HM, XD, YL, GQC, LW, WL, QN, GL, WK, XP, LL, QW, DZ, DC, LH, ZY and BW. Statistical analysis—TX, WZ, YD, HM, XD, YL, GC, LW, WL and QN. All authors approved the final version of this manuscript as submitted, and all authors agree to be accountable for all aspects of the work in ensuring that questions related to its accuracy or integrity are appropriately resolved. WZ conceptualised the original cohort study and WZ is guarantor, supervised the research activity and revised the manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
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