Publications by authors named "Adrienne Manning"
Tandem mass spectrometry (MS/MS) is the most universal platform currently available for the analysis of enzymatic activities and biomarkers in dried blood spots (DBS) for applications in newborn screening (NBS). Among the MS/MS applications in NBS, the most common is flow-injection analysis (FIA-) MS/MS, where the sample is introduced as a bolus injection into the mass spectrometer without the prior fractionation of analytes. Liquid chromatography combined with MS/MS (LC-MS/MS) has been employed for second-tier tests to reduce the false-positive rate associated with several nonspecific screening markers, beginning two decades ago.
View Article and Find Full Text PDFNewborn screening (NBS) laboratories cannot accurately compare mass spectrometry-derived results and cutoff values due to differences in testing methodologies. The objective of this study was to assess harmonization of laboratory proficiency test (PT) results using quality control (QC) data. Newborn Screening Quality Assurance Program (NSQAP) QC and PT data reported from 302 laboratories in 2019 were used to compare results among laboratories.
View Article and Find Full Text PDFObjectives: To determine if children with congenital heart disease (CHD) have lower newborn T-cell receptor excision circles (TREC) levels than the general population and to evaluate if low TREC levels in newborns with CHD are associated with clinical complications such as hospitalization for infection.
Study Design: The Connecticut Newborn Screening Program reported TREC levels for newborns with CHD delivered between October 2011 and September 2016 at 2 major Connecticut children's hospitals. TREC levels for children with CHD were compared with the general population.
Importance: Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Columbia, and the Navajo Nation conduct population-wide newborn screening for SCID. The incidence of SCID is estimated at 1 in 100,000 births.
View Article and Find Full Text PDFArticle Synopsis
- A collaborative effort involving 154 laboratories across 49 countries aims to enhance newborn screening quality using a new approach based on tandem mass spectrometry.
- Multivariate pattern recognition software was developed by analyzing a large database of results, allowing for the integration of multiple clinical data points into a single score.
- The evaluation of this approach indicates significant improvements, with tools potentially reducing false-positive diagnoses by over 50% and false-negative cases by 88%, contributing to very low false-positive rates in Minnesota's screening results.
Article Synopsis
- The study aimed to clinically validate cutoff values for newborn screening using tandem mass spectrometry by collaborating globally.
- Researchers analyzed data from about 25-30 million normal newborns and over 10,700 true positive cases to establish clinically significant cutoff ranges.
- As of December 2010, data from 130 sites in 45 countries contributed to defining cutoff ranges for 114 markers, showcasing a high level of international cooperation in screening for rare metabolic disorders.