Understanding Newborn Screening System Issues With Emphasis on Cystic Fibrosis Screening - 21/08/11

Doi : 10.1016/j.jpeds.2005.08.073

Bradford L. Therrell, PhD ^⁎ , Michele A. Lloyd-Puryear, MD, PhD, ^{^{Opinions stated herein are those of the authors and not necessarily those of the HRSA or DHHS.}}, Marie Y. Mann, MD, MPH ^{^{Opinions stated herein are those of the authors and not necessarily those of the HRSA or DHHS.}}
National Newborn Screening and Genetics Resource Center, Austin, TX, University of Texas Health Science Center at San Antonio, San Antonio, TX, Health Resources and Services Administration, Genetic Services Branch, Rockville, MD

Corresponding Author: Bradford L. Therrell, PhD, Director, National NBS and Genetics Resource Center, 1912 W. Anderson Lane #210, Austin, TX 78757, Telephone: 512-454-6419, Fax: 512-454-6509

Abstract

Newborn screening (NBS) includes biochemical testing for certain medical conditions that can cause devastating consequences if left undetected and untreated. Mandated screening requires a complex support system to ensure its effectiveness. There are 51 separate NBS programs in the United States, all with different administrative structures and screening panels. Only 8 states mandate screening for cystic fibrosis (CF) and 2 of these are just beginning. Optional NBS for CF reaches significant numbers of newborns in 3 other states but the CF screens are only projected to reach about 20% of the newborn population in 2005. Forthcoming recommendations for NBS screening from the federal Advisory Committee on Heritable Diseases and Genetic Disorders in Newborns and Children (ACHDGDNC) will impact decisions about NBS panels and professional and consumer advocacy will play an important role in deciding the directions in which NBS programs move. For effective CF NBS, CF care centers will need to partner with NBS programs to ensure optimal health benefits, and programs will need to continually evaluate diagnostic and outcome data in order to refine their screening protocols.

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Mots-clés : AAP, ACHDGDNC, ACMG, CF, DNA, HHS, HRSA, IRT, MCADD, MS/MS, NBS, NIH, PCP, PKU, US

Plan

Introduction

Methodology

Discussion

NBS Policy Development

Current Status of NBS in the United States

Conclusion

All of the authors state that they do not have any potential, perceived, or real conflicts of interests including any relationships with the Cystic Fibrosis Foundation.

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Vol 147 - N° 3S

P. S6-S10 - septembre 2005 Retour au numéro

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Newborn screening for cystic fibrosis: an opportunity to improve care and outcomes
Preston W. Campbell, Terry B. White

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Overview of published evidence on outcomes with early diagnosis from large US observational studies
Margaret Rosenfeld

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Understanding Newborn Screening System Issues With Emphasis on Cystic Fibrosis Screening - 21/08/11

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