Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications

Abstract

The screening by MS/MS for up to 23 additional disorders has approximately doubled the detection rate compared with that achieved by the conventional methods used in Germany. This strategy represents valuable preventive medicine by enabling diagnosis and treatment before the onset of symptoms.

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening

“…Acylcarnitine profiles were measured from dried blood spots as previously described (Schulze et al 2003). Levels of octanoylcarnitine (C8) and ratios of C8 to acetylcarnitine (C2), decanoylcarnitine (C10) and dodecanoylcarnitine (C12) at screening and confirmation were used for further evaluation.…”

Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening?

“…1,2 NBS has become a world-wide endeavor of state, provincial, and national public health agencies. Evaluations of the impact of NBS have been published in the United States, 3 Germany, 4 and Australia. 5 In the United States, advances in technology and the proactive stance of advocates have driven the expansion of NBS at the available or that false-positive screening tests may cause more harm than good.…”

Proteomics in Diagnosis: Past, Present and Future

“…As discussed being a cumbersome and time consuming technique 2DE could not reach the clinics, however, Mass spectrometry, especially MALDI-TOF have successfully made its way to pathology labs in the present decade. Several diseases like cancer, Alzheimer's disease, Amyloid lateral sclerosis, renal amyloidosis, and Severe combined immunodeficiency can now be diagnosed using mass spectrometry and its variants [28][29][30][31][32][33][34].…”