医学文献 >>
  • 检索发现
  • 增强检索
知识库 >>
  • 临床诊疗知识库
  • 中医药知识库
评价分析 >>
  • 机构
  • 作者
默认
×
热搜词:
换一批
论文 期刊
取消
高级检索

检索历史 清除

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

摘要Background Newborn 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.Results The 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),prior-itized 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.Conclusions This 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.

更多
广告
作者 Xin-Wen Huang [1] Ting Zhang [1] Zhen-Zhen Hu [1] Zhi-Guo Wang [2] Xiao-Ping Luo [3] Yan-Ling Yang [4] Lian-Shu Han [5] Xue-Fan Gu [5] Guang-Ren Xiao [6] Bao-Sheng Zhu [7] Ru-Lai Yang [1] Wei-Peng Wang [8] Yong-Lan Huang [9] Jian-Hui Jiang [10] Hua Wang [11] Guo-Li Tian [12] Qiao-Ling Sun [13] Xin-Mei Mao [14] Bin Yu [15] Wen-Bin Zhu [16] Pi-Liang Chen [17] Hai-Li Hu [18] Hui-Ming Yan [19] Jing Liu [20] Wen-Ying Nie [21] Feng Wang [22] Ren Cai [23] Tao Jiang [24] Xiao-Hua Wang [25] Fa-Liang Xu [26] Yu-Lin Zhou [27] Jian-Ping Yang [28] Lin Zou [29] Wei Wen [30] Yuan-Yuan Kong [31] Ming-Cai Ou [32] Ya-Guo Zhang [32] Yan-Qin Ying [3] Rong Qiang [33] De-Hua Zhao [34] Chen-Lu Jia [34] Zhi-Xin Zhang [35] Ben-Qing Wu [36] Hui Zou [21] Zheng-Yan Zhao [1] 学术成果认领
作者单位 Department 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 [1] National 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 [2] Department of Pediatrics,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China [3] Department of Pediatrics,Peking University First Hospital,Beijing 100034,China [4] Department of Pediatric Endocrinology/Genetics,Shanghai Institute for Pediatric Research,Xinhua Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 200092,China [5] Department of Medical Research,Taipei Veterans General Hospital,Taipei 11217,China [6] Department of Medical Genetics,the First People's Hospital of Yunnan Province,Kunming 650032,China;Department of Pediatrics,Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases,the First People's Hospital of Yunnan Province,Kunming 650032,China [7] Department of Health Care,Maternal,Child Health Hospital of Hubei Province,Wuhan 430070,China [8] Department of Genetics and Endocrinology,Guangzhou Women and Children's Medical Center,Guangzhou 510623,China [9] Children Inherit Metabolism and Endocrine Department,Guangdong Women and Children Hospital,Guangzhou 510000,China [10] Department of Medical Genetics,Hunan Children's Hospital,Changsha 410007,China [11] Neonatal Screening Center,Shanghai Children's Hospital,Shanghai Jiao Tong University,Shanghai 200040,China [12] Anhui Provincial Maternal and Child Health Care Association,Hefei 230061,China [13] Neonatal 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 [14] Department of Medical Genetics,Changzhou Maternity and Child Health Care Hospital,Changzhou 213003,China [15] Center of Neonatal Screening,Fujian Provincial Maternity and Children's Hospital,Affiliated Hospital of Fujian Medical University,Fuzhou 350001,China [16] Neonatal Disease Screening Center,Gansu Provincial Maternity and Child-Care Hospital,Lanzhou 730050,China [17] Center of Neonatal Disease Screening,Hefei Maternal and Child Health Care Hospital,Hefei 230000,China [18] Newborn Screening Center of Hunan Province,Hunan Provincial Maternal and Child Health Care Hospital,Changsha 410078,China [19] Hunan 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 [20] Neonatal 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 [21] Department of Medical Genetics,Jiangxi Maternal and Child Health Hospital,Nanchang 330006,China;Jiangxi Provincial Key Laboratory of Birth Defect for Prevention and Control,Jiangxi Maternal and Child Health Hospital,Nanchang 330006,China [22] Department of Medical Genetics,Liuzhou Maternal and Child Health Care Hospital,Liuzhou 545001,China [23] Genetic Medicine Center,Nanjing Maternity and Child Health Care Hospital,Women's Hospital of Nanjing Medical University,Nanjing 210004,China [24] Department of Genetic and Eugenics,Inner Mongolia Autonomous Region Maternal and Child Health Hospital,Hohhot 010020,China [25] Neonatal Disease Screening Center,Qinghai Provincial Maternal and Child Health Hospital,Xining 810005,China [26] United 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 [27] Department of Child Health Care,Shanxi Children's Hospital,Taiyuan 030013,China [28] Department of Laboratory Medicine,The Nineth Hospital Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai 200011,China [29] Department of Neonatology,Shenzhen Maternity and Child Healthcare Hospital,Shenzhen 518000,China [30] Department of Newborn Screening Center,Beijing Maternal and Child Health Care Hospital,Beijing Obstetrics and Gynecology Hospital,Capital Medical University,Beijing 100026,China [31] Neonatal Disease Screening Center,Sichuan Provincial Maternity and Child Health Care Hospital,Chengdu 610000,China [32] Medical Heredity Research Center,Northwest Women's and Children's Hospital,Xi'an 710061,China [33] Department of Henan Newborn Screening Center,the Third Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China [34] Department of Pediatrics,China-Japan Friendship Hospital,Beijing 100029,China [35] Department of Neonatology,Children's Medical Center,University of Chinese Academy of Science Shenzhen Hospital,Shenzhen,China [36]
栏目名称
DOI 10.1007/s12519-025-00996-2
发布时间 2026-03-16(万方平台首次上网日期,不代表论文的发表时间)
提交
  • 浏览2
  • 下载0
世界儿科杂志(英文版)

加载中!

相似文献

  • 中文期刊
  • 外文期刊
  • 学位论文
  • 会议论文

加载中!

加载中!

加载中!

加载中!

法律状态公告日 法律状态 法律状态信息

特别提示:本网站仅提供医学学术资源服务,不销售任何药品和器械,有关药品和器械的销售信息,请查阅其他网站。

  • 客服热线:4000-115-888 转3 (周一至周五:8:00至17:00)

  • |
  • 客服邮箱:yiyao@wanfangdata.com.cn

  • 违法和不良信息举报电话:4000-115-888,举报邮箱:problem@wanfangdata.com.cn,举报专区

官方微信
万方医学小程序
new医文AI 翻译 充值 订阅 收藏 移动端

官方微信

万方医学小程序

使用
帮助
Alternate Text
调查问卷