NEWBORN SCREENING: TOWARD A UNIFORM SCREENING PANEL AND SYSTEM

The Newborn Screening: Toward a Uniform Screening Panel and System report is comprised of two parts: The Executive Summary, and the Main Report. Both are available as pdf files. Since the Main Report is a large document, two downloading options are offered.

 

Click a link to view the corresponding pdf file. Once loaded into your browser, you can save the file locally.

 


EXECUTIVE SUMMARY: To download the entire Executive Summary, click here


MAIN REPORT:

To download the entire Main Report:
The main Report is a very large file consisting of 241 pages/30Mb. If you can download large files easily,
click here to download the entire Main Report.

 


To download specific sections of the Main Report:
To download smaller, specific sections of the Main Report, click the Section number that corresponds to the section you wish to download.

 


Section

Contents

Pages

File Size


1

Abstract, Introduction, Sections 1 & 2

12S-53S

292kb


2

Main Report Figures

54S-66S

900kb


3

Appendix 1 (Fact Sheets)

 

 

3.1

NBS Fact Sheet Validation

67S-76S

74kb

3.2

Endocrine Disorders

77S-83S

1.2Mb

3.3

Carbohydrate Disorders

84S-92S

1.4Mb

3.4

Primary Immunodeficiencies

93S-97S

847kb

3.5

Other Genetic and Non-Genetic Conditions

98S-126S

5.2Mb

3.6

Amino Acid Disorders

127S-157S

5.2Mb

3.7

Fatty Acid Disorders

158S-184S

4.7Mb

3.8

Organic Aciduras

185S-215S

5.5Mb

3.9

Hematology/Hemoglobinopathy

216S-226S

2.1Mb

3.10

Creatine Metabolism Disorders

227S-233S

914kb

3.11

Lysosomal Storage Disorders

234S-242S

1.4Mb


4

Appendices 2 - 5

243S-252S

669kb