Reduction of the false‐positive rate in newborn screening by implementation of MS/MS‐based second‐tier tests: The Mayo Clinic experience (2004–2007)

• Published in: Journal of inherited metabolic disease Vol. 30; no. 4; pp. 585 - 592
• Main Authors: Matern, D., Tortorelli, S., Oglesbee, D., Gavrilov, D., Rinaldo, P.
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01.08.2007; Blackwell Publishing Ltd
• Subjects: Adrenal Hyperplasia, Congenital - blood; Adrenal Hyperplasia, Congenital - diagnosis; False Positive Reactions; Homocystinuria - blood; Homocystinuria - diagnosis; Humans; Infant, Newborn; Maple Syrup Urine Disease - blood; Maple Syrup Urine Disease - diagnosis; Mass Spectrometry - methods; Neonatal Screening - methods; Predictive Value of Tests; Sensitivity and Specificity; Time Factors; Tyrosinemias - blood; Tyrosinemias - diagnosis; Vitamin B 12 Deficiency - blood; Vitamin B 12 Deficiency - diagnosis

Summary The continued expansion of newborn screening programmes to include additional conditions increases the responsibility of newborn screening laboratories to provide testing with the highest sensitivity and specificity to allow for identification of affected patients while minimizing the false‐...