2023
Association of Maternal Age and Blood Markers for Metabolic Disease in Newborns
Xie Y, Peng G, Zhao H, Scharfe C. Association of Maternal Age and Blood Markers for Metabolic Disease in Newborns. Metabolites 2023, 14: 5. PMID: 38276295, PMCID: PMC10821442, DOI: 10.3390/metabo14010005.Peer-Reviewed Original ResearchMaternal ageAdvanced maternal ageBlood metabolic markersMaternal age groupsInborn metabolic disordersNeonatal outcomesSingleton infantsGestational ageClinical variablesMarker levelsBirth weightBlood levelsBlood markersRisk factorsAge-related differencesInfant sexMetabolic disordersMetabolic markersPotential confoundingMetabolic diseasesScreening markerAge groupsBlood collectionScreening panelHigh false positive rate
2021
Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance
Peng G, Tang Y, Cowan TM, Zhao H, Scharfe C. Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance. Frontiers In Pediatrics 2021, 8: 623184. PMID: 33553077, PMCID: PMC7854909, DOI: 10.3389/fped.2020.623184.Peer-Reviewed Original ResearchCarnitine transport defectBlood collectionMethylmalonic acidemiaIsovaleric acidemiaMarker levelsMetabolic disordersElevated marker levelsMetabolic marker levelsFalse-positive casesInborn metabolic disordersNewborn screening dataGestational ageClinical variablesBirth weightStandard groupFalse positive rateMetabolic changesDisease screeningHigh false positive rateEffect size analysisPhenylketonuriaScreening performanceAcidemiaCollection groupDisorders
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 screeningReducing False-Positive Results in Newborn Screening Using Machine Learning
Peng G, Tang Y, Cowan TM, Enns GM, Zhao H, Scharfe C. Reducing False-Positive Results in Newborn Screening Using Machine Learning. International Journal Of Neonatal Screening 2020, 6: 16. PMID: 32190768, PMCID: PMC7080200, DOI: 10.3390/ijns6010016.Peer-Reviewed Original ResearchOrnithine transcarbamylase deficiencyMethylmalonic acidemiaNewborn screeningGlutaric acidemia type 1Successful public health programsLong-chain acyl-CoA dehydrogenase deficiencyPublic health programsInborn metabolic disordersAcyl-CoA dehydrogenase deficiencyGestational ageClinical variablesFalse-positive resultsBirth weightMetabolic disordersScreen positivesHealth programsType 1NBS programsDehydrogenase deficiencyDisease markersDisordersPositive resultsScreening
2018
Combining 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 ResearchConceptsScreen-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