Newborn Screening
Fact Sheets
American Academy of Pediatrics:
Introduction the Newborn Screening Fact Sheets. Celia I. Kaye and Committee on Genetics. Pediatrics 2006; 118;1304-1312. You download the complete article at:
http://genes-r-us.uthscsa.edu/NBS_FactSheets_%20Intro.pdf
Clinical guidance for clinicians and confirmatory algorithms. A comprehensive resource. http://www.acmg.net/resources/policies/ACT/condition-analyte-links.htm (Please note-scroll down the page and select conditions. Once you have the fact sheet in front of you are free to print. We want to draw you attention to the last page that links you to information and journal articles available to you to clinical management)
Conditions screened for in NYS
To view conditions screened in NYS and resources available from the NYS Department of Health- Wadsworth Laboratories, Albany NY .
http://www.wadsworth.org/newborn/index.htm
To view conditions screened by state:
http://genes-r-us.uthscsa.edu/nbsdisorders.htm
Newborn screening is expanding with new technology: Tandem Mass Spectrometry
“Tandem mass spectrometry (MS/MS) has been used for several years to identify and measure carnitine esters in blood and urine of children suspected of having inborn errors of metabolism. Indeed, acylcarnitine analysis is a better diagnostic test for disorders of fatty acid oxidation than organic acid analysis because it can often detect these conditions when the patient is not acutely ill. More recently, MS/MS has been used in pilot programs to screen newborns for these conditions and for disorders of amino and organic acid metabolism as well. The purpose of this article is to describe MS/MS and discuss its potential role in newborn screening programs.
The mass spectrometer is a device that separates and quantifies ions based on their mass/charge (m/z) ratio. In gas chromatography-mass spectrometry of organic acids, for example, organic acid derivatives are first subjected to gas chromatography and then enter the mass spectrometer, where each is ionized and fragmented and the abundance and m/z ratio of the various fragment ions are determined”.
ACMG/ASHG Statement. Working Group July/August 2000- Vol.2 no. 4 pp.267-269 Read the complete document at: http://genetics.faseb.org/genetics/ashg/pubs/policy/pol-43.pdf
National Society of Genetic Counselors (NSGC) -http://www.nsgc.org/
American Society of Human Genetics - http://genetics.faseb.org/genetics/ashg/ashgmenu.htm
American College of Medical Genetics (ACMG) -
http://www.faseb.org/genetics/acmg/acmgmenu.htm
International Society of Nurses in Genetics (ISONG)-
http://www.isong.org/
National Coalition for Health Professional Education in Genetics (NCHPEG)-
http://www.nchpeg.org
Secretary's Advisory Committee on Genetic Testing (SACGT)
http://www4.od.nih.gov/oba/sacgt.htm
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