[1] |
中华预防医学会出生缺陷预防与控制专业委员会新生儿遗传代谢病筛查学组. 新生儿遗传代谢病筛查组织管理及血片采集技术规范专家共识[J]. 中华新生儿科杂志(中英文), 2023, 38(6): 321-326.
|
[2] |
Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants[J]. Pediatrics, 1963, 32: 338-343.
pmid: 14063511
|
[3] |
Dussault JH, Coulombe P, Laberge C, et al. Preliminary report on a mass screening program for neonatal hypothyroidism[J]. J Pediatr, 1975, 86(5): 670-674.
doi: 10.1016/S0022-3476(75)80349-0
|
[4] |
Irie M, Enomoto K, Naruse H. Measurement of thyroid-stimulating hormone in dried blood spot[J]. Lancet, 1975, 2(7947): 1233-1234.
pmid: 53723
|
[5] |
Millington DS, Kodo N, Norwood DL, et al. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism[J]. J Inherit Metab Dis, 1990, 13(3): 321-324.
pmid: 2122093
|
[6] |
Adhikari AN, Gallagher RC, Wang Y, et al. The role of exome sequencing in newborn screening for inborn errors of metabolism[J]. Nat Med, 2020, 26(9): 1392-1397.
doi: 10.1038/s41591-020-0966-5
pmid: 32778825
|
[7] |
Remec ZI, Trebusak Podkrajsek K, Repic Lampret B, et al. Next-generation sequencing in newborn screening: a review of current state[J]. Front Genet, 2021, 12: 662254.
doi: 10.3389/fgene.2021.662254
|
[8] |
Yang RL, Qian GL, Wu DW, et al. A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China[J]. World J Pediatr, 2023, 19(7): 663-673.
doi: 10.1007/s12519-022-00670-x
|
[9] |
赵正言. 中国新生儿筛查四十三年发展历程——从陈瑞冠教授说起[J]. 临床儿科杂志, 2024, 42(2): 89-92.
|
[10] |
中华人民共和国卫生部. 新生儿疾病筛查管理办法(卫生部令第64号) [EB/OL]. 2009 [2022-05-30]. http://www.gov.cn/flfg/2009-03/05/content_1251319.htm.
|
[11] |
中华人民共和国卫生部. 新生儿疾病筛查技术规范(2010 版)[EB/OL]. [2022-05-30]. http://www.nhc.gov.cn/fys/s3585/201012/170f29f0c5c54d298155631b4a510df0.shtml.
|
[12] |
Deng K, Zhu J, Yu E, et al. Incidence of inborn errors of metabolism detected by tandem mass spectrometry in China: a census of over seven million newborns between 2016 and 2017[J]. J Med Screen, 2021, 28(3): 223-229.
doi: 10.1177/0969141320973690
pmid: 33241759
|
[13] |
蒋丽红, 杨茹莱, 董敖, 等. 中国新生儿筛查进展[J]. 浙江大学学报(医学版), 2023, 52(6): 673-682.
|
[14] |
国家卫生健康委员会妇幼健康司. 中国新生儿遗传代谢病筛查信息报告(2022)[R]. 北京: 国家卫生健康委员会, 2023.
|
[15] |
国家卫生健康委办公厅. 出生缺陷防治能力提升计划(2023-2027年)[EB/OL]. 2023 [2024-01-30]. https://www.gov.cn/zhengce/zhengceku/202308/content_6900320.htm.
|
[16] |
McCandless SE, Wright EJ. Mandatory newborn screening in the United States: history, current status, and existential challenges[J]. Birth Defects Res, 2020, 112(4): 350-366.
doi: 10.1002/bdr2.1653
pmid: 32115905
|
[17] |
国家卫生健康委员会. 医疗机构管理条例(2022年修订)[EB/OL]. [2024-01-30]. http://www.nhc.gov.cn/fzs/s3576/202303/368c667ee1244ac4844a8a787185b8c6.shtml.
|
[18] |
杨茹莱, 舒强. 新生儿遗传代谢病筛查阳性及确诊患者的管理[J]. 中国实用儿科杂志, 2023, 38(7): 513-516.
|
[19] |
Kadiroğlu T, Altay G, Akay G, et al. Identification of maternal attitudes and knowledge about newborn screenings: a Turkey sample[J]. J Community Genet, 2023, 14(6): 555-564.
doi: 10.1007/s12687-023-00659-7
|
[20] |
A IJ, van Dijk T, Franková V, et al. Informing parents about newborn screening: a European comparison study[J]. Int J Neonatal Screen, 2021, 7(1): 13.
doi: 10.3390/ijns7010013
|
[21] |
Franková V, Driscoll RO, Jansen ME, et al. Regulatory landscape of providing information on newborn screening to parents across Europe[J]. Eur J Hum Genet, 2021, 29(1): 67-78.
doi: 10.1038/s41431-020-00716-6
pmid: 33040093
|
[22] |
Beauchamp T, Childress J. Principles of biomedical ethics: marking its fortieth anniversary[J]. Am J Bioeth, 2019, 19(11): 9-12.
doi: 10.1080/15265161.2019.1665402
pmid: 31647760
|
[23] |
李勇, 田芳. 医学伦理学[M]. 第3版. 北京︰科学出版社, 2017.
|
[24] |
詹姆士·邱卓思美, 汤姆·比彻姆美, 刘星译. 生命医学伦理原则(原书第8版)[M]. 北京: 科学出版社, 2022.
|
[25] |
蒋翔, 黄永兰, 李蓓, 等. 根据采血时间调整新生儿先天性甲状腺功能减退症筛查切值的初步研究[J]. 中华新生儿科杂志(中英文), 2019, 34(5): 347-352.
|
[26] |
van Trotsenburg P, Stoupa A, Léger J, et al. Congenital hypothyroidism: a 2020-2021 consensus guidelines update-an ENDO-European reference network initiative endorsed by the European society for pediatric endocrinology and the European society for endocrinology[J]. Thyroid, 2021, 31(3): 387-419.
doi: 10.1089/thy.2020.0333
pmid: 33272083
|
[27] |
Weiner A, Oberfield S, and Vuguin P. The laboratory features of congenital hypothyroidism and approach to therapy[J]. Neoreviews, 2020, 21(1): e37-e44.
doi: 10.1542/neo.21-1-e37
|
[28] |
中华医学会儿科学分会内分泌遗传代谢学组, 中华预防医学会中华预防医学会出生缺陷预防与控制专业. 高苯丙氨酸血症的诊治共识[J]. 中华儿科杂志, 2014, 52(6): 420-425.
|
[29] |
Loeber JG, Platis D, Zetterström RH, et al. Neonatal screening in Europe revisited: an ISNS perspective on the current state and developments since 2010[J]. Int J Neonatal Screen, 2021, 7(1): 15.
doi: 10.3390/ijns7010015
|
[30] |
卫生部临床检验中心新生儿遗传代谢疾病筛查室间质量评价委员会. 新生儿疾病串联质谱筛查技术专家共识[J]. 中华检验医学杂志, 2019, 42(2): 89-97.
|
[31] |
金微娜, 赵敏慧. 母乳喂养社区支持体系的研究进展[J]. 中华护理杂志, 2020, 55(1): 148-153.
doi: 10.3761/j.issn.0254-1769.2020.01.026
|
[32] |
De Souza A, Wolan V, Battochio A, et al. Newborn screening: current status in Alberta, Canada[J]. Int J Neonatal Screen, 2019, 5(4): 37.
doi: 10.3390/ijns5040037
pmid: 33072996
|
[33] |
国家卫健委临床检验中心新生儿疾病筛查室间质量评价委员会. 新生儿疾病筛查滤纸血片采集和递送及保存专家共识[J]. 中华检验医学杂志, 2019, 42(10): 836-840.
|
[34] |
国家卫生健康委员会临床检验中心新生儿遗传代谢病筛查室间质量评价委员会. 早产儿低体重儿及患病儿遗传代谢病筛查共识[J]. 中国实用儿科杂志, 2020, 35(3): 180-184.
|
[35] |
Du Y, Wang W, Liu J, et al. National program for external quality assessment of Chinese newborn screening laboratories[J]. Int J Neonatal Screen, 2020, 6(2): 38.
doi: 10.3390/ijns6020038
pmid: 33073031
|
[36] |
中华预防医学会出生缺陷预防与控制专业委员会新生儿遗传代谢病筛查学组. 新生儿遗传代谢病筛查实验室检测技术规范专家共识[J]. 中华新生儿科杂志(中英文), 2023, 38(8): 449-454.
|