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<p>Genomic sequencing can identify nucleotide changes for underlying monogenic disorders, making it a promising newborn screening method for enabling early intervention and reducing false positives. Here, in this prospective study, we enrolled 9,992 newborns from the West Coast New District of Qingdao, China, within 3 days after birth; positive cases were followed until 31 March 2025 to assess the effectiveness of whole-genome sequencing (WGS) in neonatal screening. Among 9,992 newborns screened by WGS, 268 (2.7%) were positive. By the date of follow-up, 19 were clinically confirmed (11 hearing loss, 3 glucose-6-phosphate dehydrogenase deficiency, 2 Wilson disease, 2 phenylketonuria and 1 methylmalonic aciduria), of which 8 were missed by traditional screening. Among 19 symptomatic infants who underwent reanalysis, 8 (42.1%) were diagnosed with potentially pathogenic or pathogenic variants associated with the phenotype. Our findings indicate that integrating WGS into routine newborn screening could substantially improve early detection of monogenic diseases and enhance clinical outcomes in China.</p>

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Clinical outcomes of a genomic newborn screening study in Qingdao, China

  • 期刊论文

  • 发表日期：

    2026年6月3日

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  • Songchang Chen,
  • Hui Huang,
  • Yanping Chen,
  • Peina Du,
  • Xiaohong Wang,
  • Jinglan Zhang,
  • Xu Chen,
  • Qinmei Fu,
  • Jingyu Zhao,
  • Dongna Chen,
  • Yingmei Sun,
  • Yingchao Zhou,
  • Jianchun Shang,
  • Ruijuan Cui,
  • Lili Yuan,
  • Yong Duan,
  • Lianghui Li,
  • Mingyan Fang,
  • Guohong Zhang,
  • Yushan Huang,
  • Nan Li,
  • Zenghua Shao,
  • Bing Deng,
  • Mengmeng Wang,
  • Shanshan Liu,
  • Lijie Song,
  • Xiaoming Wei,
  • Shunyao Wang,
  • Ke Yuan,
  • Dan Li,
  • Di Ma,
  • Hao Li,
  • Lei Chen,
  • Jiale Xiang,
  • Zhiyu Peng,
  • Ya Gao,
  • Huanhuan Peng,
  • Fang Chen,
  • Xin Jin,
  • Junnian Liu,
  • Yutao Du,
  • Chenming Xu,
  • Lijian Zhao,
  • Silin Pan

摘要

Genomic sequencing can identify nucleotide changes for underlying monogenic disorders, making it a promising newborn screening method for enabling early intervention and reducing false positives. Here, in this prospective study, we enrolled 9,992 newborns from the West Coast New District of Qingdao, China, within 3 days after birth; positive cases were followed until 31 March 2025 to assess the effectiveness of whole-genome sequencing (WGS) in neonatal screening. Among 9,992 newborns screened by WGS, 268 (2.7%) were positive. By the date of follow-up, 19 were clinically confirmed (11 hearing loss, 3 glucose-6-phosphate dehydrogenase deficiency, 2 Wilson disease, 2 phenylketonuria and 1 methylmalonic aciduria), of which 8 were missed by traditional screening. Among 19 symptomatic infants who underwent reanalysis, 8 (42.1%) were diagnosed with potentially pathogenic or pathogenic variants associated with the phenotype. Our findings indicate that integrating WGS into routine newborn screening could substantially improve early detection of monogenic diseases and enhance clinical outcomes in China.