Newborn screening analytes and structural birth defects among 27,000 newborns

• Published in: PloS one Vol. 19; no. 7; p. e0304238
• Main Authors: Lupo, Philip J, Archer, Natalie P, Harris, Rachel D, Marengo, Lisa K, Schraw, Jeremy M, Hoyt, Adrienne T, Tanksley, Susan, Lee, Rachel, Drummond-Borg, Margaret, Freedenberg, Debra, Shetty, Priya B, Agopian, A J, Shumate, Charles, Rasmussen, Sonja A, Langlois, Peter H, Canfield, Mark A
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 05-07-2024; Public Library of Science (PLoS)
• Subjects: Amino acids; Analysis; Babies; Biology and Life Sciences; Birth defects; Birth weight; Congenital Abnormalities - diagnosis; Congenital Abnormalities - epidemiology; Congenital defects; Datasets; Down syndrome; Etiology; Female; Gestational age; Health services; Humans; Infant, Newborn; Infants (Newborn); Male; Medical screening; Medicine and Health Sciences; Neonatal Screening - methods; Neonates; Newborn babies; People and Places; Phenylalanine; Physical Sciences; Population studies; Prevention; Registries; Regression analysis; Research and Analysis Methods; Screening; Spina bifida; Texas - epidemiology; Thyroxine; Tyrosine; Texas; United States > US
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0304238

Emerging evidence suggests newborn screening analytes may yield insights into the etiologies of birth defects, yet no effort has evaluated associations between a range of newborn screening analytes and birth defects.
This population-based study pooled statewide data on birth defects, birth certificates, and newborn screening analytes from Texas occurring between January 1, 2007 and December 31, 2009. Associations between a panel of thirty-six newborn screening analytes, collected by the statewide Texas Newborn Screening Program, and the presence of a birth defect, defined as at least one of 39 birth defects diagnoses recorded by the Texas Birth Defects Registry, were assessed using regression analysis.
Of the 27,643 births identified, 20,205 had at least one of the 39 birth defects of interest (cases) as identified by the Texas Birth Defects Registry, while 7,438 did not have a birth defect (controls). Among 1,404 analyte-birth defect associations evaluated, 377 were significant in replication analysis. Analytes most consistently associated with birth defects included the phenylalanine/tyrosine ratio (N = 29 birth defects), tyrosine (N = 28 birth defects), and thyroxine (N = 25 birth defects). Birth defects most frequently associated with a range of analytes included gastroschisis (N = 29 analytes), several cardiovascular defects (N = 26 analytes), and spina bifida (N = 23 analytes).
Several significant and novel associations were observed between newborn screening analytes and birth defects. While some findings could be consequences of the defects themselves or to the care provided to infants with these defects, these findings could help to elucidate mechanisms underlying the etiology of some birth defects.