SEARCHCOHORTpediatrics, obstetrics and gynecology

cohort·pediatrics, obstetrics and gynecology, endocrinology, epidemiology, public health·PMC10265936

Newborn screen metabolic panels reflect the impact of common disorders of pregnancy

Pediatric research · 9 authors, 8 centres

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TL;DR

Infants of diabetic mothers showed associations with short-chain acylcarnitines and free carnitine, while infants of mothers with preeclampsia with severe features or chronic hypertension with superimposed preeclampsia showed alterations in acetylcarnitine, free carnitine, and ornithine.

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1,186 CHARS

This retrospective observational study linked California Perinatal Quality Care Collaborative and hospitalization records with California Biobank newborn screening data for 41,333 singleton live births between 2005 and 2010. The study population oversampled preterm infants, with 33% born at less than 37 weeks gestation. Elastic net logistic regression with repeated tenfold cross-validation was used to identify metabolite associations with maternal diabetes or hypertensive disorders. Infants of diabetic mothers were positively associated with short-chain acylcarnitines (C2, C3, C4, C5) and free carnitine, with type 1 diabetes achieving a mean AUROC of 0.838. Infants of mothers with chronic hypertension with superimposed preeclampsia showed a mean AUROC of 0.907, with C2, free carnitine, C5-DC, C18, and ornithine as notable predictive analytes. Associations were further accentuated by size for gestational age designations. Limitations include the retrospective case–control design with oversampled preterm infants, lack of data on blood transfusions or NBS collection timing for some participants, and the use of only targeted metabolomics with a limited number of analytes.

STUDY TYPE

cohort

SPECIALTY

pediatrics

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AI pipeline

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100% · A

ORIGINAL PAPER

PMC10265936

Newborn screen metabolic panels reflect the impact of common disorders of pregnancy

Pediatric research

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ABSTRACT

BACKGROUND: Hypertensive disorders of pregnancy and maternal diabetes profoundly affect fetal and newborn growth, yet disturbances in intermediate metabolism and relevant mediators of fetal growth alterations remain poorly defined. We sought to determine whether there are distinct newborn screen metabolic patterns among newborns affected by maternal hypertensive disorders or diabetes in utero. METHODS: A retrospective observational study investigating distinct newborn screen metabolites in conjunction with data linked to birth and hospitalization records in the state of California between 2005 and 2010. RESULTS: A total of 41,333 maternal–infant dyads were included. Infants of diabetic mothers demonstrated associations with short-chain acylcarnitines and free carnitine. Infants born to mothers with preeclampsia with severe features and chronic hypertension with superimposed preeclampsia had alterations in acetylcarnitine, free carnitine, and ornithine levels. These results were further accentuated by size for gestational age designations. CONCLUSIONS: Infants of diabetic mothers demonstrate metabolic signs of incomplete beta oxidation and altered lipid metabolism. Infants of mothers with hypertensive disorders of pregnancy carry analyte signals that may reflect oxidative stress via altered nitric oxide signaling. The newborn screen analyte composition is influenced by the presence of these maternal conditions and is further associated with the newborn size designation at birth.

CITATION EXPORT

Jonathan D. Reiss, Alan L. Chang, Jonathan A. Mayo et al.. Newborn screen metabolic panels reflect the impact of common disorders of pregnancy. Pediatric research. (2022). https://doi.org/10.1038/s41390-021-01753-7

AUTHORS

9 · 8 CENTRES

Jonathan D. Reiss, Alan L. Chang, Jonathan A. Mayo, Katherine Bianco, Henry C. Lee, David K. Stevenson, Gary M. Shaw, Nima Aghaeepour, Karl G. Sylvester

1Division of Neonatology, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, CA, USA.
2Department of Anesthesiology, Pain and Perioperative Medicine, Stanford University, Palo Alto, CA, USA.
3March of Dimes Prematurity Research Center, Stanford University School of Medicine, Palo Alto, CA, USA.
4Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynecology, Stanford University School of Medicine, Palo Alto, CA, USA.
5California Perinatal Quality Care Collaborative, Palo Alto, CA, USA.
6Division of Pediatric Surgery, Department of Surgery, Stanford University School of Medicine, Palo Alto, CA, USA.
7These authors contributed equally: Jonathan D. Reiss, Alan L. Chang.
8These authors jointly supervised this work: Gary M. Shaw, Nima Aghaeepour, Karl G. Sylvester.