Disorders: Description and Sample Screening Methodology

Clinical Issues and Considerations

The following Web sites describe disorders that can be detected through newborn screening:

National Newborn Screening & Genetics Resource Center (NNSGRC): Routine Disorders Included in Newborn Screening
American Academy of Pediatrics: Newborn Screening Fact Sheets (1996)
GeneTests-GeneClinics
March of Dimes Newborn Screening Recommendations

Sample Screening Methodology: New York State

Disorder	Marker Analyte	Method	Verification Test
PKU	Phenylalanine	MS/MS	TLC/BIA
MSUD	Leucine	MS/MS	TLC/BIA
Homocystinuria	Methionine	MS/MS	TLC/BIA
Galactosemia	Gal-1-P/galactose	Beutler-enzyme	Hill-metabolite
Biotinidase Deficiency	Biotinidase	Wolf-enzyme	Wolf-enzyme
Sickle Cell Disease	Hemoglobin	Alkaline Electro-phoresis	Acid Electro-phoresis/ Isoelectric Focusing
Hypothyroidism	Thyroxine	ELISA	DNA
Cystic Fibrosis	Immunoreactive trypsinogen	ELISA	DNA
CAH	17-hydroxy- progesterone	ELISA	DNA
HIV	HIV-antibodies	ELISA	Western Blot
MCADD	Octanoyl-carnitine	MS/MS	DNA

Other Useful Links

Your state’s newborn screening program contact information on the Web site of the National Newborn Screening & Genetics Resource Center (NNSGRC)
Glossary of Newborn Screening Acronyms/Abbreviations
Baylor College of Medicine Medical Genetics Laboratories List of Diagnostic Tests

The information contained in this section does not constitute the endorsement of any specific state policy or procedure by the March of Dimes. Content is based on the New York State Department of Health manual “Newborn Screening in New York State: A Guide for Health Professionals,” provided by the Newborn Screening Program, Wadsworth Center, New York State Department of Health. The material has been modified for a national audience, and additional information has been added by the March of Dimes.

© 2008 March of Dimes Birth Defects Foundation. All rights reserved. The March of Dimes is a not-for-profit organization recognized as tax-exempt under Internal Revenue Code section 501(c)(3). Our mission is to improve the health of babies by preventing birth defects and infant mortality.