Correlation of UGT1A1 genotypes with newborn hyperbilirubinemia using newborn genetic screening - Takeaways - MDSpire

Correlation of UGT1A1 genotypes with newborn hyperbilirubinemia using newborn genetic screening

  • By

  • Qianyong Ji

  • Wen Zeng

  • XiaoOu Li

  • ShukChing Chong

  • JianJiang Zhu

  • July 7, 2026

  • 0 min

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  • 1

    This study evaluated UGT1A1 variants in 1,019 newborns to assess their association with neonatal hyperbilirubinemia.

  • 2

    Seventy-five newborns had confirmed UGT1A1 variants, while 40 served as controls without these variants.

  • 3

    Transcutaneous bilirubin levels were higher in mutation groups than controls on day 42, indicating slower bilirubin clearance.

  • 4

    Clinically significant neonatal hyperbilirubinemia was rare, with only four documented cases across both mutation and control groups.

  • 5

    The findings suggest a variant-level reporting strategy for newborn genetic screening may be beneficial.

Original Source(s)

Correlation of UGT1A1 genotypes with newborn hyperbilirubinemia using newborn genetic screening

  • by Qianyong Ji, Wen Zeng, XiaoOu Li, ShukChing Chong, JianJiang Zhu

  • July 7, 2026

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