[HTML][HTML] Development of strategies to decrease false positive results in newborn screening
S Malvagia, G Forni, D Ombrone… - … of neonatal screening, 2020 - mdpi.com
… NBS tests are dependent on decisions regarding cut-off values… the analyte panel during
routine expanded newborn screening… not sufficient funds for genetic screening by TREC testing. …
routine expanded newborn screening… not sufficient funds for genetic screening by TREC testing. …
[HTML][HTML] Post-analytical tools for the triage of newborn screening results in follow-up can reduce confirmatory testing and guide performance improvement
PL Hall, A Wittenauer, A Hagar - … journal of neonatal screening, 2020 - mdpi.com
… our site, to account for different analytes and local protocols. … reporting uninformative cases
for PKU would have improved … of multiple cutoff values, and scales of abnormal results, this …
for PKU would have improved … of multiple cutoff values, and scales of abnormal results, this …
[HTML][HTML] Reducing false-positive results in newborn screening using machine learning
… the established cutoff values and thus were not technically screen … In this study, analyte ratios
were not included in the RF model … These results support our previous findings of improved …
were not included in the RF model … These results support our previous findings of improved …
Improving harmonization and standardization of expanded newborn screening results by optimization of the legacy flow injection analysis tandem mass spectrometry …
RS Carling, E Whyte, C John, R Garstone… - Clinical …, 2022 - academic.oup.com
… Newborn screening (NBS) laboratories in the United Kingdom adhere to common protocols
based on single analyte cutoff values (… Analyte was found not to be a significant factor and …
based on single analyte cutoff values (… Analyte was found not to be a significant factor and …
[HTML][HTML] The importance of assay imprecision near the screen cutoff for newborn screening of lysosomal storage diseases
BH Robinson, MH Gelb - International journal of neonatal screening, 2019 - mdpi.com
… span a range of analyte values near the cutoff. Our treatment … This overlap region is shown
as an expanded plot (Figure 1C… s t-test is statistically valid and has value, we do not discuss it …
as an expanded plot (Figure 1C… s t-test is statistically valid and has value, we do not discuss it …
[HTML][HTML] Optimizing the phenylalanine cut-off value in a newborn screening program
D Perko, B Repic Lampret, ZI Remec, M Zerjav Tansek… - Genes, 2022 - mdpi.com
… to 160 µmol/L, the number of recalls would be 12, with no … If we increased the cut-off value
for PKU detection from 120 µmol/L to … , the Phe values, as well as other analytes, can become …
for PKU detection from 120 µmol/L to … , the Phe values, as well as other analytes, can become …
[HTML][HTML] A novel approach to improve newborn screening for congenital hypothyroidism by integrating covariate-adjusted results of different tests into CLIR customized …
AD Rowe, SD Stoway, H Åhlman, V Arora… - … of Neonatal Screening, 2021 - mdpi.com
… users to interpret results individualized for each patient and to better … Within this study,
analytes exhibited variation across two … of static and/or binned cutoff values is prone to excessive …
analytes exhibited variation across two … of static and/or binned cutoff values is prone to excessive …
Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes
G Peng, Y Tang, N Gandotra, GM Enns… - Journal of Inherited …, 2020 - Wiley Online Library
… half a million newborns screened each year. Babies that are … metabolic analytes measured
by MS/MS, 1 two analyte ratios … false-positive males was not significantly increased. Notably, …
by MS/MS, 1 two analyte ratios … false-positive males was not significantly increased. Notably, …
[HTML][HTML] Incorporation of second-tier biomarker testing improves the specificity of newborn screening for mucopolysaccharidosis type I
… for Mucopolysaccharidosis type I (MPS I) has increased … interpretation can significantly
increase the specificity of … technology has pushed the boundaries of newborn screening to not …
increase the specificity of … technology has pushed the boundaries of newborn screening to not …
[HTML][HTML] The combined impact of CLIR post-analytical tools and second tier testing on the performance of newborn screening for disorders of propionate, methionine …
DK Gavrilov, AL Piazza, G Pino, C Turgeon… - … of Neonatal Screening, 2020 - mdpi.com
… interpretation of an abnormal MS/MS result for a given analyte has been based on the
comparison to cutoff values (… too common to be resolved without improved strategies. An obvious …
comparison to cutoff values (… too common to be resolved without improved strategies. An obvious …