Universal newborn screening: A roadmap for action

被引：34

作者：

Howson, C. P. ^{[1
]}

Cedergren, B. ^{[2
]}

Giugliani, R. ^{[3
,8
]}

Huhtinen, P. ^{[4
]}

Padilla, C. D. ^{[5
]}

Palubiak, C. S. ^{[6
]}

Santos, M. D. ^{[7
]}

Schwartz, I. V. D. ^{[3
,8
]}

Therrell, B. L. ^{[9
]}

Umemoto, A. ^{[10
]}

Wang, J. ^{[11
]}

Zeng, X. ^{[12
]}

Zhao, X. ^{[13
]}

Zhong, N. ^{[14
,16
,17
]}

McCabe, E. R. B. ^{[15
]}

机构：

[1] Howson & Partners Global Hlth, 824 Los Lovatos Rd, Santa Fe, NM 87501 USA

[2] Univ Washington, Evans Sch Publ Policy & Governance, Seattle, WA 98195 USA

[3] HCPA, Med Genet Serv, Porto Alegre, RS, Brazil

[4] Int Soc Neonatal Screening ISNS, Turku, Finland

[5] Univ Philippines, Coll Med, Dept Pediat, Manila, Philippines

[6] PerkinElmer Diagnost Inc, Akron, OH USA

[7] PerkinElmer Diagnost Inc, Sao Paulo, SP, Brazil

[8] Univ Fed Rio Grande do Sul, Dept Genet, Porto Alegre, RS, Brazil

[9] Univ Texas Hlth Sci Ctr San Antonio, Natl Newborn Screening & Global Resource Ctr NNSG, Austin, TX USA

[10] Westchester Childrens Assoc, White Plains, NY USA

[11] Hainan Prov Hosp Maternal & Childrens Hlth, China Alliance Translat Med Maternal & Children H, Haikou, Hainan, Peoples R China

[12] Sun Yat Sen Univ, Affiliated Hosp 3, Guangzhou, Guangdong, Peoples R China

[13] Peking Univ, Ctr Med Genet, China Alliance Translat Med Maternal & Children H, Beijing, Peoples R China

[14] Southern Med Univ, Guangzhou, Guangdong, Peoples R China

[15] Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90024 USA

[16] China Alliance Translat Med Maternal & Children H, Beijing, Peoples R China

[17] New York State Inst Basic Res Dev Disabil, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2018年 / 124卷 / 03期

关键词：

SICKLE-CELL-ANEMIA; PROGRAM; DISORDERS; DISEASE; CARE; NEED;

D O I：

10.1016/j.ymgme.2018.04.009

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Newborn screening (NBS) prevents morbidity and mortality by screening babies for selected disorders in the first days of life so that early diagnosis and treatment can be initiated. Congenital disorders impact an estimated 8 million or 6% of annual births worldwide, and of the top five that contribute 25% to the global burden of these disorders, three can be identified and managed by NBS. There are determined pockets of activity in Latin America, Sub-Saharan Africa, and the Asia Pacific region, where partnerships among government, non-governmental organizations, academia, the private sector and civil society are developing novel NBS programs that are both saving lives and preventing disability in those who survive.

引用

页码：177 / 183

页数：7

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