获取途径

作者

Falin He, Rulai Yang, Xinwen Huang, Yaping Tian, Xiaofang Pei, Mary Kathryn Bohn, Lin Zou, Yan Wang, Haibo Li, Ting Wang, Maosheng Gu, Tao Jiang, Xigui Chen, Hui Zou, Hongwei Wei, Weibing Tian, Tian Tang, Khosrow Adeli, Zhiguo Wang

作者单位

Department of Laboratory Sciences, West China School of Public Health and West China Fourth Hospital, Sichuan University, Chengdu, China. The Xuzhou Maternity and Child Health Care Hospital, Xuzhou, China. 10 Nanjing Maternity and Child Health Care Hospital, Nanjing, China. 11 Jining Maternal and Child Health Family Planning Service Center, Jining, China. 12 Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University, Jinan, China. 13 Linyi Maternity and Child Health Care Hospital, Linyi, China. 14 W. F. Maternal and Child Health Hospital, Weifang, China. Chinese PLA General Hospital and Medical School of Chinese PLA, Beijing, China. Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China. The Children's Hospital of Chongqing Medical University, Chongqing, China. 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, China. Suzhou Municipal Hospital, Suzhou, China. Affiliations Ningbo Women and Children's Hospital, Ningbo, China. Department of Pediatric Laboratory Medicine, CALIPER Program, The Hospital for Sick Children, Toronto, ON, Canada.

刊名

Frontiers in molecular biosciences

年份

2021

卷号

Vol.8

页码

719866

ISSN

2296-889X

关键词

biomarkers inborn errors of metabolism mass spectrometry newborn screening reference intervals.

摘要

Introduction: The major clinical problem presently confronting the Chinese newborn screening programs by tandem mass spectrometry is the lack of comprehensive reference intervals for disease biomarkers. To close this gap, the Chinese National Center for Clinical Laboratories launched a nationwide study to investigate the dynamic pattern of 35 MS/MS NBS biomarkers and establish accurate and robust RIs. Methods: Blood spot samples from 4,714,089 Chinese neonates were tested in participating ce...更多

Introduction: The major clinical problem presently confronting the Chinese newborn screening programs by tandem mass spectrometry is the lack of comprehensive reference intervals for disease biomarkers. To close this gap, the Chinese National Center for Clinical Laboratories launched a nationwide study to investigate the dynamic pattern of 35 MS/MS NBS biomarkers and establish accurate and robust RIs. Methods: Blood spot samples from 4,714,089 Chinese neonates were tested in participating centers/laboratories and used for study analysis. MS/MS NBS biomarker trends were visually assessed by their concentrations over age. Specific partitions were determined arbitrarily by each day and sex or by the statistical method of Harris and Boyd. RIs, corresponding to the 2.5th and 97.5th percentiles, as well as the 1th, 25th, 75th and 99th percentiles were calculated for each reference partition using a non-parametric rank approach. Results: Most MS/MS NBS biomarkers fluctuated during the first week of life, followed by a relatively stable concentration. Age and sex-specific RIs were established and presented an improved specificity over the RIs used in participating centers/laboratories. Females demonstrated higher 2.5th and 97.5th percentiles in all amino acids except arginine and ornithine than males, whereas males showed higher 2.5th and 97.5th percentiles in most acylcarnitines. Conclusion: The present study determined the dynamic trends of 35 MS/MS biomarkers and established age and sex-specific RIs, valuably contributing to the current literature and timely evaluation of neonatal health and disease.收起

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期刊