The Current State of Newborn Screening in the United States

被引：57

作者：

Fabie, Noelle Andrea V. ^{[1
,2
]}

Pappas, Kara B. ^{[1
,3
]}

Feldman, Gerald L. ^{[1
,3
,4
,5
]}

机构：

[1] Childrens Hosp Michigan, Div Genet Genom & Metab Disorders, 3950 Beaubien St, Detroit, MI 48201 USA

[2] Childrens Hosp & Clin Minnesota, Dept Med Genet & Genom, 2545 Chicago Ave,South MDB 17-700, Minneapolis, MN 55404 USA

[3] Wayne State Univ, Sch Med, Dept Pediat, 540 E Canfield 2375, Detroit, MI 48201 USA

[4] Wayne State Univ, Sch Med, Ctr Mol Med & Genet, 2375 Scott Hall,540 East Canfield, Detroit, MI 48201 USA

[5] Wayne State Univ, Sch Med, Dept Pathol, 2375 Scott Hall,540 East Canfield, Detroit, MI 48201 USA

来源：

PEDIATRIC CLINICS OF NORTH AMERICA | 2019年 / 66卷 / 02期

关键词：

Newborn screening; Inborn errors of metabolism; Tandem mass spectroscopy; Dried blood spot; ACMG ACT sheets; ETHICAL-ISSUES; PERSPECTIVES;

D O I：

10.1016/j.pcl.2018.12.007

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Newborn screening has evolved since its introduction in 1963. The disorders that are being screened for continue to evolve as new treatments and new technologies advance. In this review, the authors discuss the current state of newborn screening in the United States, including the disorders currently being screened for and how newborn screening is performed. They also discuss the special considerations and limitations of newborn screening in sick and premature infants and as well as some ethical issues related to newborn screening. Finally, new disorders being considered for testing and new technologies that may be used in the future of newborn screening are discussed.

引用

页码：369 / +

页数：19

共 23 条

[1] Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing [J].

Almannai, Mohammed ;

Marom, Ronit ;

Sutton, V. Reid .

CURRENT OPINION IN PEDIATRICS, 2016, 28 (06) :694-699

[2] Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia [J].

Baumgartner, Matthias R. ;

Hoerster, Friederike ;

Dionisi-Vici, Carlo ;

Haliloglu, Goknur ;

Karall, Daniela ;

Chapman, Kimberly A. ;

Huemer, Martina ;

Hochuli, Michel ;

Assoun, Murielle ;

Ballhausen, Diana ;

Burlina, Alberto ;

Fowler, Brian ;

Gruenert, Sarah C. ;

Gruenewald, Stephanie ;

Honzik, Tomas ;

Merinero, Begona ;

Perez-Cerda, Celia ;

Scholl-Buergi, Sabine ;

Skovby, Flemming ;

Wijburg, Frits ;

MacDonald, Anita ;

Martinelli, Diego ;

Sass, Joern Oliver ;

Valayannopoulos, Vassili ;

Chakrapani, Anupam .

ORPHANET JOURNAL OF RARE DISEASES, 2014, 9

[3] Universal screening for hearing loss in newborns: US preventive services task force recommendation statement [J].

Calonge, Ned ;

Petitti, Diana B. ;

DeWitt, Thomas G. ;

Gordis, Leon ;

Gregory, Kimberly D. ;

Harris, Russell ;

Isham, George ;

LeFevre, Michael L. ;

Loveland-Cherry, Carol ;

Marion, Lucy N. ;

Moyer, Virginia A. ;

Ockene, Judith K. ;

Sawaya, George F. ;

Siu, Albert L. ;

Teutsch, Steven M. ;

Yawn, Barbara P. .

PEDIATRICS, 2008, 122 (01) :143-148

[4] Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations [J].

Chinsky, Jeffrey M. ;

Singh, Rani ;

Ficicioglu, Can ;

van Karnebeek, Clara D. M. ;

Grompe, Markus ;

Mitchell, Grant ;

Waisbren, Susan E. ;

Gucsavas-Calikoglu, Muge ;

Wasserstein, Melissa P. ;

Coakley, Katie ;

Scott, C. Ronald .

GENETICS IN MEDICINE, 2017, 19 (12) :1380-1395

[5]

Cummings JJ, 2012, AAP NEWS

[6] Consent for newborn screening: parents' and health-care professionals' experiences of consent in practice [J].

Etchegary, Holly ;

Nicholls, Stuart G. ;

Tessier, Laure ;

Simmonds, Charlene ;

Potter, Beth K. ;

Brehaut, Jamie C. ;

Pullman, Daryl ;

Hayeems, Robyn ;

Zelenietz, Sari ;

Lamoureux, Monica ;

Milburn, Jennifer ;

Turner, Lesley ;

Chakraborty, Pranesh ;

Wilson, Brenda .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (11) :1530-1534

[7] Genomic newborn screening: public health policy considerations and recommendations [J].

Friedman, Jan M. ;

Cornel, Martina C. ;

Goldenberg, Aaron J. ;

Lister, Karla J. ;

Senecal, Karine ;

Vears, Danya F. .

BMC MEDICAL GENOMICS, 2017, 10

[8] Suggested guidelines for the diagnosis and management of urea cycle disorders [J].

Haeberle, Johannes ;

Boddaert, Nathalie ;

Burlina, Alberto ;

Chakrapani, Anupam ;

Dixon, Marjorie ;

Huemer, Martina ;

Karall, Daniela ;

Martinelli, Diego ;

Sanjurjo Crespo, Pablo ;

Santer, Rene ;

Servais, Aude ;

Valayannopoulos, Vassili ;

Lindner, Martin ;

Rubio, Vicente ;

Dionisi-Vici, Carlo .

ORPHANET JOURNAL OF RARE DISEASES, 2012, 7

[9] Parental Attitudes toward Ethical and Social Issues Surrounding the Expansion of Newborn Screening Using New Technologies [J].

Hasegawa, L. E. ;

Fergus, K. A. ;

Ojeda, N. ;

Au, S. M. .

PUBLIC HEALTH GENOMICS, 2011, 14 (4-5) :298-306

[10] Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines [J].

Huemer, Martina ;

Kozich, Viktor ;

Rinaldo, Piero ;

Baumgartner, Matthias R. ;

Merinero, Begona ;

Pasquini, Elisabetta ;

Ribes, Antonia ;

Blom, Henk J. .

JOURNAL OF INHERITED METABOLIC DISEASE, 2015, 38 (06) :1007-1019

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