2020
Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes
Peng G, Tang Y, Gandotra N, Enns GM, Cowan TM, Zhao H, Scharfe C. Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes. Journal Of Inherited Metabolic Disease 2020, 43: 934-943. PMID: 32216101, PMCID: PMC7540352, DOI: 10.1002/jimd.12236.Peer-Reviewed Original ResearchMeSH KeywordsAcyl-CoA Dehydrogenase, Long-ChainAmino Acid Metabolism, Inborn ErrorsBiomarkersBrain Diseases, MetabolicCaliforniaCongenital Bone Marrow Failure SyndromesEthnicityFalse Positive ReactionsFemaleGestational AgeGlutaryl-CoA DehydrogenaseHumansInfant, NewbornLipid Metabolism, Inborn ErrorsMaleMitochondrial DiseasesMuscular DiseasesNeonatal ScreeningOrnithine Carbamoyltransferase Deficiency DiseaseTandem Mass SpectrometryConceptsMetabolic marker levelsOrnithine transcarbamylase deficiencyMethylmalonic acidemiaClinical variablesMarker levelsBlack infantsMetabolic markersBlood metabolic markersDiverse newborn populationGlutaric acidemia type 1False-positive screensLong-chain acyl-CoA dehydrogenase deficiencyEthnicity-related differencesNewborn screening programsFalse-positive casesInborn metabolic disordersAcyl-CoA dehydrogenase deficiencySingleton babiesGestational ageBirth weightScreening programMetabolic disordersNewborn populationInfluence of ethnicityMetabolic screening
2018
Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns
Peng G, de Fontnouvelle CA, Enns GM, Cowan TM, Zhao H, Scharfe C. Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns. Molecular Genetics And Metabolism 2018, 126: 39-42. PMID: 30448007, PMCID: PMC6361520, DOI: 10.1016/j.ymgme.2018.11.006.Peer-Reviewed Original ResearchConceptsMarker levelsBirth weightMethylmalonic acidemiaPreterm birthHispanic infantsBlack infantsLow birth weightPreterm birth rateFalse-positive casesPreterm newbornsGestational ageFalse-positive resultsHigh prevalenceDiagnostic proceduresInfantsNon-HispanicsBirth rateNewbornsPredictive covariatesAcidemiaCombining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia
Peng G, Shen P, Gandotra N, Le A, Fung E, Jelliffe-Pawlowski L, Davis RW, Enns GM, Zhao H, Cowan TM, Scharfe C. Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia. Genetics In Medicine 2018, 21: 896-903. PMID: 30209273, PMCID: PMC6416784, DOI: 10.1038/s41436-018-0272-5.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid Metabolism, Inborn ErrorsDried Blood Spot TestingFemaleGenetic VariationHumansInfant, NewbornMachine LearningMaleMetabolism, Inborn ErrorsNeonatal ScreeningConceptsScreen-positive newbornsMethylmalonic acidemiaMMA patientsPathogenic variantsNewborn screeningNewborn metabolic screeningLikely pathogenic variantsSecond-tier testingFalse-positive casesInborn metabolic disordersMMA casesHealthy controlsHispanic ethnicityMetabolic disordersMetabolic screeningPatientsDiverse multiethnic populationsMultiethnic populationMolecular findingsBlood spotsUnknown significanceFalse-positive outcomesNBS programsClinical performanceScreening panel