Newborn Screening Outcomes & Management
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Laboratory Quality Assurance Outcomes (Priority 1) Project
Project Lead: Marzia Pasquali, PhD
Newborn screening by tandem mass spectrometry (MS/MS) has been implemented throughout the United States. The power of this technology is that it allows the simultaneous identification and quantification of several analytes. The recognition of patterns of analytes characteristic of metabolic disorders as opposed to patterns due to diet or medication artifacts is very important in reducing the false positive or negathotive rate. We have prepared blood spots reproducing patterns of metabolic disorders and medications artifacts and we have sent them to NBS laboratories within and outside our region as educational challenges. We have collected the results from the participating laboratories, then we have prepared educational material to explain the differences in the patterns. We have also prepared an educational piece regarding the different metabolic disorders that were the topics of the educational challenge. We were able to submit two challenges (disorders affecting tyrosine and free carnitine levels as compared to artifact seen in premature or sick infants). The results were discussed with the interested laboratories and our consultants at the Mountain states regional meetings. We are preparing the third challenge. Seven laboratories are now enrolled in this project and others would like to join the group if the project is continued.
This project will address the increased rate of false positives/false negatives due to failure to recognize patterns of abnormal metabolites and failure to adopt 2nd tier tests. Specifically, Dr. Pasquali will:
- Collect and exchange newborn blood spots from patients with confirmed metabolic disorders and from patients with abnormal metabolites due to iatrogenic effects;
- Provide an evaluation of results that will include information about the disease, why certain metabolites are abnormally elevated, urgency of follow-up; and
- Promote the use of second tier testing to reduce the number of false positive (and, in some cases, false negative) results.
Project Documents and Resources
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