Neonatal Macrosomia is an Interfering Factor for Analytes on the Colorado State Newborn Screen
Open Access
- 3 March 2020
- journal article
- research article
- Published by The Endocrine Society in Journal of Clinical Endocrinology & Metabolism
- Vol. 105 (4), e1561-e1568
- https://doi.org/10.1210/clinem/dgz183
Abstract
Purpose Neonatal macrosomia is a known complication of maternal obesity and gestational diabetes, and it is a risk factor for obesity and diabetes in offspring. Amino acids and acylcarnitines are biomarkers for obesity in children and adults. These analytes, which are also routinely obtained on the newborn screen, have not been well-characterized in macrosomic newborns. The impact of macrosomia on rates of false-positive results in the newborn screen has also not been well-studied. We test the hypothesis that macrosomia is an interfering factor for amino acids and/or acylcarnitines on the newborn screen. Methods Newborn screening analytes determined by tandem mass spectroscopy were obtained from the Colorado Department of Public Health and Environment archives (2016–2018). This included metabolite concentrations obtained at 24–72 hours of life from newborns with birth weight 2500 to 3999 g (nonmacrosomic, n = 131 896) versus 4000 to 8000 g (macrosomic, n = 7806). Mother/infant phenotypic data were limited to information provided on the newborn screening dried blood spot card. Data were analyzed using Student t-test and chi-squared analysis. Results Macrosomic newborns had elevations in C2, C3, dicarboxylic, and long-chain acylcarnitines (specifically C16 and C18 species). C3 and C18:1 were 2 to 3 times more likely to be above predetermined state cutoffs in macrosomic versus nonmacrosomic newborns (both male and female). Main conclusions Macrosomia is an interfering factor for the analytes C3 and C18:1, leading to higher risk of false-positive results for methylmalonic/propionic acidemia and carnitine palmitoyl transferase type 2 deficiency, respectively. Analyte patterns found in macrosomic neonates correspond with similar analyte patterns in obese children and adults.Keywords
This publication has 32 references indexed in Scilit:
- Gestational diabetes and pregnancy outcomes - a systematic review of the World Health Organization (WHO) and the International Association of Diabetes in Pregnancy Study Groups (IADPSG) diagnostic criteriaBMC Pregnancy and Childbirth, 2012
- Emerging Perspectives on Essential Amino Acid Metabolism in Obesity and the Insulin-Resistant StateAdvances in Nutrition: An International Review Journal, 2011
- Plasma Acylcarnitine Profiles Suggest Incomplete Long-Chain Fatty Acid β-Oxidation and Altered Tricarboxylic Acid Cycle Activity in Type 2 Diabetic African-American WomenJournal of Nutrition, 2009
- A Branched-Chain Amino Acid-Related Metabolic Signature that Differentiates Obese and Lean Humans and Contributes to Insulin ResistanceCell Metabolism, 2009
- Mitochondrial Overload and Incomplete Fatty Acid Oxidation Contribute to Skeletal Muscle Insulin ResistanceCell Metabolism, 2008
- Expanded Newborn Screening for Biochemical Disorders: The Effect of a False-Positive ResultPEDIATRICS, 2006
- The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005Journal of Inherited Metabolic Disease, 2006
- Early growth and abdominal fatness in adult life.Journal of Epidemiology and Community Health, 1992
- Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolismJournal of Inherited Metabolic Disease, 1990
- Multiple Comparisons among MeansJournal of the American Statistical Association, 1961