Lethality of Birth Defects in Live Born Infants Categorized by Gestational Age and Birth Weight

Abstract

Objective This study aimed to describe lethality of birth defects (BDs) in newborns categorized by gestational age and birth weight and to identify BDs associated with prematurity.

Study Design Live born infants (n = 16,452) with isolated BDs classified by severity, and 42,511 healthy controls were assigned to categories: adequate growth, preterm, or small for gestational age (SGA). Proportion of cases and BDs' lethality rates were obtained by category and compared with controls.

Results Overall fewer malformed than nonmalformed infants were of adequate growth, while the opposite occurred in the preterm and SGA categories where gastroschisis and esophageal atresia were among the most outstanding defects. For most severe BDs, the early neonatal death rate was higher than control values in all categories; for mild defects, except cleft lip in the preterm category, they did not differ. Diaphragmatic hernia showed the highest lethality values, while those of spina bifida were among the lowest. Talipes, hypospadias, and septal heart defects were mild defects significantly associated with prematurity.

Conclusion Although reasons, such as induced preterm delivery of fetuses with certain anomalies, could partially account for their high prematurity rates, susceptibility to preterm birth might exist through underlying mechanisms related with the defects. The identification of BDs associated with prematurity should serve to improve measures that prevent preterm birth especially of fetuses at risk.

Key Points

• Some BDs predispose to prematurity.

• Prematurity is an additional risk factor for mortality in infants with mild defects.

• Lethality values should be adjusted by gestational age and birth weight.

Keywords

Lethality - birth defects - prematurity - birth weight - risk - ECLAMC

Publikationsverlauf

Eingereicht: 21. Januar 2021

Angenommen: 19. August 2021

Artikel online veröffentlicht:
11. Oktober 2021

• References

• 1 Bhatia A, Krieger N, Subramanian SV. Learning From History About Reducing Infant Mortality: Contrasting the Centrality of Structural Interventions to Early 20th-Century Successes in the United States to Their Neglect in Current Global Initiatives. Milbank Q 2019; 97 (01) 285-345
• 2 Lehtonen L, Gimeno A, Parra-Llorca A, Vento M. Early neonatal death: A challenge worldwide. Semin Fetal Neonatal Med 2017; 22 (03) 153-160
• 3 Boyle B, Addor M-C, Arriola L. et al. Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data. Arch Dis Child Fetal Neonatal Ed 2018; 103 (01) F22-F28
• 4 Almli LM, Ely DM, Ailes EC. et al. Infant Mortality Attributable to Birth Defects - United States, 2003-2017. MMWR Morb Mortal Wkly Rep 2020; 69 (02) 25-29
• 5 Roncancio CP, Misnaza SP, Peña IC, Prieto FE, Cannon MJ, Valencia D. Trends and characteristics of fetal and neonatal mortality due to congenital anomalies, Colombia 1999-2008. J Matern Fetal Neonatal Med 2018; 31 (13) 1748-1755
• 6 Groisman B, Liascovich R, Bidondo MP. et al. Birth defects surveillance: experiences in Argentina and Colombia. J Community Genet 2019; 10 (03) 385-393
• 7 Chang H-Y, Hwu W-L, Chen C-H, Hou CY, Cheng W. Children Conceived by Assisted Reproductive Technology Prone to Low Birth Weight, Preterm Birth, and Birth Defects: A Cohort Review of More Than 50,000 Live Births During 2011-2017 in Taiwan. Front Pediatr 2020; 8: 87
• 8 Fant ME, Fuentes J, Kong X, Jackman S. The nexus of prematurity, birth defects, and intrauterine growth restriction: a role for plac1-regulated pathways. Front Pediatr 2014; 2: 8
• 9 Honein MA, Kirby RS, Meyer RE. et al; National Birth Defects Prevention Network. The association between major birth defects and preterm birth. Matern Child Health J 2009; 13 (02) 164-175
• 10 Broussard CS, Gilboa SM, Lee KA, Oster M, Petrini JR, Honein MA. Racial/ethnic differences in infant mortality attributable to birth defects by gestational age. Pediatrics 2012; 130 (03) e518-e527
• 11 Malcoe LH, Shaw GM, Lammer EJ, Herman AA. The effect of congenital anomalies on mortality risk in white and black infants. Am J Public Health 1999; 89 (06) 887-892
• 12 Wang Y, Liu G, Canfield MA. et al. Racial/ethnic differences in survival of United States children with birth defects: a population-based study. J Pediatr. 2015; 166 (04) 819-826.e1–2
• 13 Castilla EE, Orioli IM. ECLAMC: the Latin-American collaborative study of congenital malformations. Community Genet 2004; 7 (2-3): 76-94
• 14 Bidondo MP, Groisman B, Gili JA, Liascovich R, Barbero P, Pingray V. RENAC Task Force. Study on the prevalence and neonatal lethality in patients with selected congenital anomalies as per the data of the National Registry of Congenital Anomalies of Argentina. Arch Argent Pediatr 2015; 113 (04) 295-302
• 15 Ko HS, Kim DJ, Chung Y. et al. A national cohort study evaluating infant and fetal mortality caused by birth defects in Korea. BMJ Open 2017; 7 (11) e017963
• 16 Stege G, Fenton A, Jaffray B. Nihilism in the 1990s: the true mortality of congenital diaphragmatic hernia. Pediatrics 2003; 112 (3 Pt 1): 532-535
• 17 Anderson JE, Galganski LA, Cheng Y. et al. Epidemiology of gastroschisis: A population-based study in California from 1995 to 2012. J Pediatr Surg 2018; 53 (12) 2399-2403
• 18 Bollmann R, Kalache K, Mau H, Chaoui R, Tennstedt C. Associated malformations and chromosomal defects in congenital diaphragmatic hernia. Fetal Diagn Ther 1995; 10 (01) 52-59
• 19 Imataka G, Suzumura H, Arisaka O. Clinical features and survival in individuals with trisomy 18: A retrospective one-center study of 44 patients who received intensive care treatments. Mol Med Rep 2016; 13 (03) 2457-2466
• 20 Pober BR. Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH. Am J Med Genet C Semin Med Genet 2007; 145C [phone]
• 21 Cereda A, Carey JC. The trisomy 18 syndrome. Orphanet J Rare Dis 2012; 7: 81
• 22 Bakker MK, Kancherla V, Canfield MA. et al. Analysis of Mortality among Neonates and Children with Spina Bifida: An International Registry-Based Study, 2001-2012. Paediatr Perinat Epidemiol 2019; 33 (06) 436-448
• 23 Seller MJ. Neural tube defects and sex ratios. Am J Med Genet 1987; 26 (03) 699-707
• 24 Arendt LH, Ramlau-Hansen CH, Wilcox AJ, Henriksen TB, Olsen J, Lindhard MS. Placental Weight and Male Genital Anomalies: A Nationwide Danish Cohort Study. Am J Epidemiol 2016; 183 (12) 1122-1128
• 25 Calzolari E, Contiero MR, Roncarati E, Mattiuz PL, Volpato S. Aetiological factors in hypospadias. J Med Genet 1986; 23 (04) 333-337
• 26 Ghazarian AA, Trabert B, Graubard BI, Longnecker MP, Klebanoff MA, McGlynn KA. Placental Weight and Risk of Cryptorchidism and Hypospadias in the Collaborative Perinatal Project. Am J Epidemiol 2018; 187 (07) 1354-1361
• 27 Baldacci S, Pierini A, Santoro M, Spadoni I, Bianchi F. [Prevalence, mortality and lethality of congenital heart defects from the Tuscan Registry (Tuscany Region, Central Italy), 1992-2009]. Epidemiol Prev 2015; 39 (01) 36-44