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Original research
Aetiology and outcomes of prolonged neonatal jaundice in tertiary centres: data from the China Neonatal Genome Project
  1. Tiantian Xiao1,
  2. Jin Wang1,
  3. Huijun Wang2,
  4. Hongfang Mei1,
  5. Xinran Dong2,
  6. Yulan Lu2,
  7. Guoqiang Cheng1,
  8. Laishuan Wang1,
  9. Liyuan Hu1,
  10. Wei Lu3,
  11. Qi Ni2,
  12. Gang Li2,
  13. Ping Zhang2,
  14. Yanyan Qian2,
  15. Xu Li2,
  16. Xiaomin Peng2,
  17. Yao Wang2,
  18. Chun Shen4,
  19. Gong Chen4,
  20. Ya-lan Dou5,
  21. Yun Cao1,
  22. Liping Chen6,
  23. Wenqing Kang7,
  24. Long Li8,
  25. Xinnian Pan9,
  26. Qiufen Wei9,
  27. Deyi Zhuang10,
  28. Dong-mei Chen11,
  29. Zhaoqing Yin12,
  30. Jianshe Wang13,
  31. Lin Yang3,
  32. Bingbing Wu2,
  33. Wenhao Zhou1
  1. 1 Division of Neonatology, Children's Hospital of Fudan University, National Children’s Medical Center, Shanghai, China
  2. 2 Centre for Molecular Medicine, Children's Hospital of Fudan University,National Children’s Medical Center, Shanghai, China
  3. 3 Department of Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University,National Children’s Medical Center, Shanghai, China
  4. 4 Department of Pediatric Surgery, Children's Hospital of Fudan University,National Children’s Medical Center, Shanghai, China
  5. 5 Department of Clinical Epidemiology and Clinical Trial Unit, Children's Hospital of Fudan University,National Children’s Medical Center, Shanghai, China
  6. 6 Department of Neonatology, Jiangxi Provincial Children's Hospital, Nanchang, China
  7. 7 Department of Neonatology, Children’s Hospital of Zhengzhou University, Zhengzhou, China
  8. 8 Department of Neonatology, People’s Hospital of Xinjiang Uygur Autonomous Region, Xinjiang, China
  9. 9 Department of Neonatology, Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China
  10. 10 Department of Pediatrics, Xiamen Children’s Hospital, Xiamen, China
  11. 11 Department of Neonatal Intensive Care Unit, Quanzhou Maternity and Children's Hospital, Quanzhou, China
  12. 12 Department of Neonatology, The People's Hospital of Dehong, Yunnan, China
  13. 13 The Centre for Pediatric Liver Diseases, Children’s Hospital of Fudan University,National Children’s Medical Center, Shanghai, China
  1. Correspondence to Dr Wenhao Zhou, Division of Neonatology, Children's Hospital of Fudan University, Shanghai 201102, China; zhouwenhao{at}fudan.edu.cn

Abstract

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.

  • Jaundice
  • Neonatology

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.

https://doi.org/10.1136/archdischild-2021-323413

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    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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    Footnotes

    • 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.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.