Evidence map›Paper›PMID 41452423›Full record

ReviewWorld journal of pediatrics : WJP2026

Expert consensus on the combined screening of genes and biomarkers for neonatal diseases.

Xin-Wen Huang, Ting Zhang, Zhen-Zhen Hu, Zhi-Guo Wang, Xiao-Ping Luo, Yan-Ling Yang, Lian-Shu Han, Xue-Fan Gu, Guang-Ren Xiao, Bao-Sheng Zhu and 35 more

Abstract readConsensus StatementReview
PubMed Full text at PMC Publisher
In one paragraph

Review in World journal of pediatrics : WJP, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Progress and Prospects of Newborn Screening in China.International journal of neonatal screening · 2026
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

45 authors.

Xin-Wen HuangDepartment of Genetics and Metabolism, Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, 3333 Binsheng Road, Binjiang District, Hangzhou 310052, China.ORCID 0000-0003-1124-7044
Ting ZhangDepartment of Genetics and Metabolism, Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, 3333 Binsheng Road, Binjiang District, Hangzhou 310052, China.
Zhen-Zhen HuDepartment of Genetics and Metabolism, Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, 3333 Binsheng Road, Binjiang District, Hangzhou 310052, China.
Zhi-Guo WangNational Center for Clinical Laboratories, Beijing Engineering Research Center of Laboratory Medicine, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing 100730, China.
Xiao-Ping LuoDepartment of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
Yan-Ling YangDepartment of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Lian-Shu HanDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.
Xue-Fan GuDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200092, China.
Guang-Ren XiaoDepartment of Medical Research, Taipei Veterans General Hospital, Taipei 11217, China.
Bao-Sheng ZhuDepartment of Medical Genetics, the First People's Hospital of Yunnan Province, Kunming 650032, China.
Ru-Lai YangDepartment of Genetics and Metabolism, Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, 3333 Binsheng Road, Binjiang District, Hangzhou 310052, China.
Wei-Peng WangDepartment of Health Care, Maternal, Child Health Hospital of Hubei Province, Wuhan 430070, China.
Yong-Lan HuangDepartment of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou 510623, China.
Jian-Hui JiangChildren Inherit Metabolism and Endocrine Department, Guangdong Women and Children Hospital, Guangzhou 510000, China.
Hua WangDepartment of Medical Genetics, Hunan Children's Hospital, Changsha 410007, China.
Guo-Li TianNeonatal Screening Center, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai 200040, China.
Qiao-Ling SunAnhui Provincial Maternal and Child Health Care Association, Hefei 230061, China.
Xin-Mei MaoNeonatal Disease Screening Center, Peking University First Hospital Ningxia Women and Children's Hospital (Ningxia Hui Autonomous Region Maternal and Child Health Hospital), Yinchuan 750001, China.
Bin YuDepartment of Medical Genetics, Changzhou Maternity and Child Health Care Hospital, Changzhou 213003, China.
Wen-Bin ZhuCenter of Neonatal Screening, Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou 350001, China.
Pi-Liang ChenNeonatal Disease Screening Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou 730050, China.
Hai-Li HuCenter of Neonatal Disease Screening, Hefei Maternal and Child Health Care Hospital, Hefei 230000, China.
Hui-Ming YanNewborn Screening Center of Hunan Province, Hunan Provincial Maternal and Child Health Care Hospital, Changsha 410078, China.
Jing LiuHunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, China.
Wen-Ying NieNeonatal Disease Screening Center, Jinan Maternal and Child Health Care Hospital Affiliated With Shandong First Medical University, No. 2, Jingsan Road, Jianguo Xiao, Shizhong District, Jinan 250000, China.
Feng WangDepartment of Medical Genetics, Jiangxi Maternal and Child Health Hospital, Nanchang 330006, China.
Ren CaiDepartment of Medical Genetics, Liuzhou Maternal and Child Health Care Hospital, Liuzhou 545001, China.
Tao JiangGenetic Medicine Center, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, Nanjing 210004, China.
Xiao-Hua WangDepartment of Genetic and Eugenics, Inner Mongolia Autonomous Region Maternal and Child Health Hospital, Hohhot 010020, China.
Fa-Liang XuNeonatal Disease Screening Center, Qinghai Provincial Maternal and Child Health Hospital, Xining 810005, China.
Yu-Lin ZhouUnited Diagnostic and Research Center for Clinical Genetics, Women and Children's Hospital, School of Medicine and School of Public Health, Xiamen University, Xiamen 361003, China.
Jian-Ping YangDepartment of Child Health Care, Shanxi Children's Hospital, Taiyuan 030013, China.
Lin ZouDepartment of Laboratory Medicine, The Nineth Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200011, China.
Wei WenDepartment of Neonatology, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen 518000, China.
Yuan-Yuan KongDepartment of Newborn Screening Center, Beijing Maternal and Child Health Care Hospital, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.
Ming-Cai OuNeonatal Disease Screening Center, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu 610000, China.
Ya-Guo ZhangNeonatal Disease Screening Center, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu 610000, China.
Yan-Qin YingDepartment of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
Rong QiangMedical Heredity Research Center, Northwest Women's and Children's Hospital, Xi'an 710061, China.
De-Hua ZhaoDepartment of Henan Newborn Screening Center, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Chen-Lu JiaDepartment of Henan Newborn Screening Center, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Zhi-Xin ZhangDepartment of Pediatrics, China-Japan Friendship Hospital, Beijing 100029, China.
Ben-Qing WuDepartment of Neonatology, Children's Medical Center, University of Chinese Academy of Science Shenzhen Hospital, Shenzhen, China. wubenqing783@126.com.
Hui ZouNeonatal Disease Screening Center, Jinan Maternal and Child Health Care Hospital Affiliated With Shandong First Medical University, No. 2, Jingsan Road, Jianguo Xiao, Shizhong District, Jinan 250000, China. zouhui819@163.com.
Zheng-Yan ZhaoDepartment of Genetics and Metabolism, Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, 3333 Binsheng Road, Binjiang District, Hangzhou 310052, China. zhaozy@zju.edu.cn.ORCID 0000-0003-1826-2503

Funding

Key Research and Development Program of Zhejiang Province No. 2024C03152 to H.F.
6 · The paper itself

Abstract

backgroundNewborn screening (NBS) through disease biomarkers has significantly reduced severe outcomes of congenital disorders. Moreover, exploratory newborn genetic screening programs are increasingly being implemented. This consensus, developed by multidisciplinary experts, aims to standardize the combined screening of genes and biomarkers for neonatal diseases in China, balancing ethical, technical, and clinical considerations. DATA SOURCES: This consensus synthesizes evidence from peer-reviewed literature (PubMed, CNKI, etc.) up to 2024 and integrates clinical experiences from multidisciplinary experts in neonatology, genetics, and laboratory medicine, focusing on disease biomarker-based NBS, newborn genetic screening, and the clinical utility of combined screening.

resultsThe consensus defines principles for combined screening: (1) disease/gene selection: 154 disease-causing genes covering 67 inherited metabolic disorders (e.g., amino acid metabolism disorders, organic acid metabolism disorders), prioritized by treatability, onset age (< 5 years), and cost-effectiveness; (2) methodology: integrating dried blood spot biomarker analysis with next-generation sequencing-based targeted capture (coverage > 300 ×), validated by MLPA/Sanger and long-range sequencing for complex variants (e.g., CYP21A2, SLC25A13); and (3) operational workflow: standardized workflows for informed consent, sample collection/delivery, and result interpretation, with dual reporting of marker and genetic findings within 15 days. Positive cases require family verification and/or other genetic sequencing techniques.

conclusionsThis consensus establishes a practical framework for integrating marker and genetic screening, aiming to improve diagnostic accuracy and achieve rapid and effective interventions, thereby saving lives and reducing the occurrence of severe complications. Implementation requires interdisciplinary collaboration and ongoing quality control to maximize clinical utility.

Indexed as

Genetic TestingInfant, Newborn, DiseasesNeonatal ScreeningBiomarkersChinaHumansInfant, NewbornBiomarkersCombined screeningDisease biomarkerGenetic screeningNewborn screening

Identifiers

PMID41452423
PMCPMC12894176

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.