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

被引:1
|
作者
Lupo, Philip J. [1 ,2 ]
Archer, Natalie P. [3 ]
Harris, Rachel D. [1 ,2 ]
Marengo, Lisa K. [3 ]
Schraw, Jeremy M. [1 ,2 ]
Hoyt, Adrienne T. [4 ]
Tanksley, Susan [5 ]
Lee, Rachel [5 ]
Drummond-Borg, Margaret [3 ]
Freedenberg, Debra [3 ]
Shetty, Priya B. [1 ,2 ]
Agopian, A. J. [6 ]
Shumate, Charles [3 ]
Rasmussen, Sonja A. [7 ]
Langlois, Peter H. [8 ]
Canfield, Mark A. [8 ]
机构
[1] Baylor Coll Med, Hematol Oncol Sect, Dept Pediat, Houston, TX 77030 USA
[2] Texas Childrens Hosp, Texas Childrens Canc & Hematol Ctr, Houston, TX 77030 USA
[3] Texas Dept State Hlth Serv, Birth Defects Epidemiol & Surveillance Branch, Environm Epidemiol & Dis Registries Sect, Austin, TX USA
[4] Univ Houston, Dept Hlth & Human Performance, Houston, TX USA
[5] Texas Dept State Hlth Serv, Lab Serv Sect, Austin, TX USA
[6] Univ Texas Hlth Sci Ctr Houston UTHealth, Sch Publ Hlth, Dept Epidemiol Human Genet & Environm Sci, Houston, TX USA
[7] Johns Hopkins Univ, Sch Med, Baltimore, MD USA
[8] Univ Texas Hlth Sci Ctr Houston, Sch Publ Hlth, UTHealth, Austin, TX USA
来源
PLOS ONE | 2024年 / 19卷 / 07期
关键词
AMINO-ACID SUPPLEMENTATION; MATERNAL PHENYLKETONURIA; THYROXINE LEVELS; ASSOCIATION; TEXAS; POPULATION;
D O I
10.1371/journal.pone.0304238
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Background 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.Methods 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.Findings 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).Conclusions 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.
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页数:13
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