Expansion of newborn screening programs using automated tandem mass spectrometry

✍ Scribed by Chace, Donald H. ;Naylor, Edwin W.

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 65 KB
• Volume: 5
• Category: Article
• ISSN: 1080-4013
• DOI: 10.1002/(sici)1098-2779(1999)5:2<150::aid-mrdd10>3.0.co;2-u

✦ Synopsis

Developments and improvements in the application of tandem mass spectrometry for newborn screening of inherited metabolic diseases using dried blood specimens have been ongoing since the initial work with fast atom bombardment ionization tandem mass spectrometry for phenylketonuria and other amino acid disorders was started in 1990. Previous work with acylcarnitine analysis of clinical samples was easily adapted and combined with the amino acid analysis such that a single analysis for both acylcarnitine and amino acid screening was accomplished. With the introduction of electrospray ionization techniques, great progress towards full automation was made resulting in a state-of-the-art, cost-effective method for diagnosis of multiple metabolic diseases in a single analytical run including phenylketonuria, maple syrup urine disease, homocystinuria, medium chain acyl-CoA dehydrogenase deficiency, as well as other disorders in amino, organic, and fatty acid metabolism. Currently, more than 1,000 samples per day are routinely analyzed in our program. Over 139 clinically significant and treatable disorders have been detected out of over 560,000 newborns screened.