Literature DB >> 30819343

The Current State of Newborn Screening in the United States.

Noelle Andrea V Fabie1, Kara B Pappas2, Gerald L Feldman3.   

Abstract

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.
Copyright © 2018 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  ACMG ACT sheets; Dried blood spot; Inborn errors of metabolism; Newborn screening; Tandem mass spectroscopy

Mesh：

Year:  2019        PMID： 30819343     DOI： 10.1016/j.pcl.2018.12.007

Source DB:  PubMed          Journal:  Pediatr Clin North Am        ISSN： 0031-3955            Impact factor:   3.278


  11 in total

1.  Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada.

Authors:  Allison Buckingham; Aileen Kenneson; Rani H Singh
Journal:  Mol Genet Metab Rep       Date:  2022-04-04

Review 2.  The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy.

Authors:  Philip M Farrell; Michael J Rock; Mei W Baker
Journal:  Genes (Basel)       Date:  2020-04-08       Impact factor: 4.096

3.  Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry.

Authors:  Yiming Lin; Chien-Hsing Lin; Xiaoshan Yin; Lin Zhu; Jianbin Yang; Yuyan Shen; Chiju Yang; Xigui Chen; Haili Hu; Qingqing Ma; Xueqin Shi; Yaping Shen; Zhenzhen Hu; Chenggang Huang; Xinwen Huang
Journal:  Front Genet       Date:  2019-12-17       Impact factor: 4.599

4.  Pharmacogenomic Testing In Pediatrics: Navigating The Ethical, Social, And Legal Challenges.

Authors:  Susanne B Haga
Journal:  Pharmgenomics Pers Med       Date:  2019-10-14

5.  Feasibility of SARS-CoV-2 Antibody Testing in Remote Outpatient Trials.

Authors:  Sarah M Lofgren; Elizabeth C Okafor; Alanna A Colette; Katelyn A Pastick; Caleb P Skipper; Matthew F Pullen; Melanie R Nicol; Tyler D Bold; Ananta S Bangdiwala; Nicole W Engen; Lindsey B Collins; Darlisha A Williams; Margaret L Axelrod; Beth K Thielen; Kathy H Hullsiek; David R Boulware; Radha Rajasingham
Journal:  Open Forum Infect Dis       Date:  2021-10-06       Impact factor: 4.423

6.  Pain points in parents' interactions with newborn screening systems: a qualitative study.

Authors:  Mike Conway; Truc Thuy Vuong; Kim Hart; Andreas Rohrwasser; Karen Eilbeck
Journal:  BMC Pediatr       Date:  2022-03-31       Impact factor: 2.125

Review 7.  Neuromonitoring in Rare Disorders of Metabolism.

Authors:  Carlos Castillo-Pinto; Kuntal Sen; Andrea Gropman
Journal:  Yale J Biol Med       Date:  2021-12-29

8.  Stability of amino acids, free and acyl-carnitine in stored dried blood spots.

Authors:  Yumi Shimada; Nanae Kawano; Miho Goto; Hiromi Watanabe; Kenji Ihara
Journal:  Pediatr Int       Date:  2022-01       Impact factor: 1.617

9.  Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.

Authors:  Maria Giżewska; Katarzyna Durda; Theresa Winter; Iwona Ostrowska; Mariusz Ołtarzewski; Jeannette Klein; Oliver Blankenstein; Hanna Romanowska; Elżbieta Krzywińska-Zdeb; Michał Filip Patalan; Elżbieta Bartkowiak; Natalia Szczerba; Stefan Seiberling; Bożena Birkenfeld; Matthias Nauck; Horst von Bernuth; Christian Meisel; Ewa Anna Bernatowska; Mieczysław Walczak; Małgorzata Pac
Journal:  Front Immunol       Date:  2020-10-16       Impact factor: 7.561

10.  Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States.

Authors:  Kristen P Fishler; Joshua C Euteneuer; Luca Brunelli
Journal:  Int J Neonatal Screen       Date:  2022-03-21
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