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Supplemental Newborn Screening by MS/MS-Based Second-Tier Testing

MS/MS Impact on Newborn Screening

Slide 5

July 2008

As you now understand, the impact of tandem mass spectrometry on newborn screening was significant because it allows for the detection of more than 40 conditions in a single blood spot analysis looking at more than 100 analytes and analyte ratios. The generated metabolite profiles must be interpreted as a whole because an abnormal concentration of a single parameter in the profile is not unusual but most often not associated with disease.

Reporting an abnormal analyte without interpretation of the complete profile will cause a large number of false-positive results. As our colleagues at the Boston Children’s Hospital have shown in 2003, false-positive results cause significant stress and even serious parent-child dysfunction in some families. In addition, unnecessary follow-up wastes time and money of all involved and can desensitize physicians who might assume that most screening results are wrong anyway.

Impact on Newborn Screening


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