The role of genetic testing in small for gestational age infants

Clayton PE, Cianfarani S, Czernichow P, Johannsson G, Rapaport R, Rogol A. Management of the child born small for gestational age through to adulthood: a consensus statement of the International Societies of Pediatric Endocrinology and the Growth Hormone Research Society. J Clin Endocrinol Metab. 2007;92:804–10.

Article  CAS  PubMed  Google Scholar 

Aris IM, Kleinman KP, Belfort MB, Kaimal A, Oken E. A 2017 US reference for singleton birth weight percentiles using obstetric estimates of gestation. Pediatrics. 2019;144:e20190076.

Hokken-Koelega ACS, van der Steen M, Boguszewski MCS, Cianfarani S, Dahlgren J, Horikawa R, et al. International consensus guideline on small for gestational age: etiology and management from infancy to early adulthood. Endocr Rev. 2023;44:539–65.

Article  PubMed  PubMed Central  Google Scholar 

Finken MJJ, van der Steen M, Smeets CCJ, Walenkamp MJE, de Bruin C, Hokken-Koelega ACS, et al. Children born small for gestational age: differential diagnosis, molecular genetic evaluation, and implications. Endocr Rev. 2018;39:851–94.

Article  PubMed  Google Scholar 

Kramer MS, Olivier M, McLean FH, Willis DM, Usher RH. Impact of intrauterine growth retardation and body proportionality on fetal and neonatal outcome. Pediatrics. 1990;86:707–13.

Article  CAS  PubMed  Google Scholar 

Dang R, Patel AI, Weng Y, Schroeder AR, Lee HC, Aby J, et al. Incidence of neonatal hypothermia in the newborn nursery and associated factors. JAMA Netw Open. 2023;6:e2331011.

Article  PubMed  PubMed Central  Google Scholar 

Malin GL, Morris RK, Riley R, Teune MJ, Khan KS. When is birthweight at term abnormally low? A systematic review and meta-analysis of the association and predictive ability of current birthweight standards for neonatal outcomes. BJOG. 2014;121:515–26.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zeitlin J, El Ayoubi M, Jarreau PH, Draper ES, Blondel B, Künzel W, et al. Impact of fetal growth restriction on mortality and morbidity in a very preterm birth cohort. J Pediatr. 2010;157:733–9.e1.

Article  PubMed  Google Scholar 

Boghossian NS, Geraci M, Edwards EM, Horbar JD. Morbidity and mortality in small for gestational age infants at 22 to 29 weeks’ gestation. Pediatrics. 2018;141:e20172533.

Jensen EA, Foglia EE, Dysart KC, Simmons RA, Aghai ZH, Cook A, et al. Adverse effects of small for gestational age differ by gestational week among very preterm infants. Arch Dis Child Fetal Neonatal Ed. 2019;104:F192–F8.

Article  PubMed  Google Scholar 

Bomback M, Everett S, Lyford A, Sahni R, Kim F, Baptiste C, et al. Genetic disorders and their association with morbidity and mortality in early preterm small for gestational age infants. Am J Obstet Gynecol. 2024;232:487.e1–487.e14.

Malloy MH. Size for gestational age at birth: impact on risk for sudden infant death and other causes of death, USA 2002. Arch Dis Child Fetal Neonatal Ed. 2007;92:F473–8.

Article  PubMed  PubMed Central  Google Scholar 

Premru-Srsen T, Verdenik I, Ponikvar BM, Steblovnik L, Geršak K, Cerar LK. Infant mortality and causes of death by birth weight for gestational age in non-malformed singleton infants: a 2002-2012 population-based study. J Perinat Med. 2018;46:547–53.

Article  PubMed  Google Scholar 

Altman M, Edstedt Bonamy AK, Wikström AK, Cnattingius S. Cause-specific infant mortality in a population-based Swedish study of term and post-term births: the contribution of gestational age and birth weight. BMJ Open. 2012;2:e001152.

Liu J, Wang XF, Wang Y, Wang HW, Liu Y. The incidence rate, high-risk factors, and short- and long-term adverse outcomes of fetal growth restriction: a report from Mainland China. Medicine. 2014;93:e210.

Article  PubMed  PubMed Central  Google Scholar 

Sacchi C, Marino C, Nosarti C, Vieno A, Visentin S, Simonelli A. Association of intrauterine growth restriction and small for gestational age status with childhood cognitive outcomes: a systematic review and meta-analysis. JAMA Pediatr. 2020;174:772–81.

Article  PubMed  Google Scholar 

Nam HK, Lee KH. Small for gestational age and obesity: epidemiology and general risks. Ann Pediatr Endocrinol Metab. 2018;23:9–13.

Article  PubMed  PubMed Central  Google Scholar 

Verkauskiene R, Petraitiene I, Albertsson Wikland K. Puberty in children born small for gestational age. Horm Res Paediatr. 2013;80:69–77.

Article  CAS  PubMed  Google Scholar 

Ibáñez L, de Zegher F. Puberty after prenatal growth restraint. Horm Res. 2006;65:112–5.

PubMed  Google Scholar 

Chase HP, Welch NN, Dabiere CS, Vasan NS, Butterfield LJ. Alterations in human brain biochemistry following intrauterine growth retardation. Pediatrics. 1972;50:403–11.

Article  CAS  PubMed  Google Scholar 

Tolsa CB, Zimine S, Warfield SK, Freschi M, Sancho Rossignol A, Lazeyras F, et al. Early alteration of structural and functional brain development in premature infants born with intrauterine growth restriction. Pediatr Res. 2004;56:132–8.

Article  PubMed  Google Scholar 

De Bie HM, Oostrom KJ, Boersma M, Veltman DJ, Barkhof F, Delemarre-van de Waal HA, et al. Global and regional differences in brain anatomy of young children born small for gestational age. PLoS One. 2011;6:e24116.

Article  PubMed  PubMed Central  Google Scholar 

McCarton CM, Wallace IF, Divon M, Vaughan HG Jr. Cognitive and neurologic development of the premature, small for gestational age infant through age 6: comparison by birth weight and gestational age. Pediatrics. 1996;98:1167–78.

Article  CAS  PubMed  Google Scholar 

McCormick MC, Workman-Daniels K, Brooks-Gunn J. The behavioral and emotional well-being of school-age children with different birth weights. Pediatrics. 1996;97:18–25.

Article  CAS  PubMed  Google Scholar 

Larroque B, Bertrais S, Czernichow P, Léger J. School difficulties in 20-year-olds who were born small for gestational age at term in a regional cohort study. Pediatrics. 2001;108:111–5.

Article  CAS  PubMed  Google Scholar 

Lundgren EM, Cnattingius S, Jonsson B, Tuvemo T. Birth characteristics and different dimensions of intellectual performance in young males: a nationwide population-based study. Acta Paediatr. 2003;92:1138–43.

Article  CAS  PubMed  Google Scholar 

Guellec I, Lapillonne A, Marret S, Picaud JC, Mitanchez D, Charkaluk ML, et al. Effect of intra- and extrauterine growth on long-term neurologic outcomes of very preterm infants. J Pediatr. 2016;175:93–9.e1.

Article  PubMed  Google Scholar 

McCowan L, Horgan RP. Risk factors for small for gestational age infants. Best Pr Res Clin Obstet Gynaecol. 2009;23:779–93.

Article  Google Scholar 

Fetal growth restriction: ACOG practice bulletin, Number 227. Obstet Gynecol. 2021;137:e16–e28.

Brown ER, Giussani DA. Cause of fetal growth restriction during high-altitude pregnancy. iScience. 2024;27:109702.

Article  PubMed  PubMed Central  Google Scholar 

Ananth CV, Vintzileos AM, Shen-Schwarz S, Smulian JC, Lai YL. Standards of birth weight in twin gestations stratified by placental chorionicity. Obstet Gynecol. 1998;91:917–24.

CAS  PubMed  Google Scholar 

Pierdant G, Ittermann T, Freyer-Adam J, Siewert-Markus U, Grabe HJ, Dörr M, et al. Maternal socioeconomic and lifestyle factors and life dissatisfaction associated with a small for gestational age infant. The Survey of Neonates in Pomerania (SNiP). Arch Gynecol Obstet. 2023;307:1243–54.

Article  PubMed  Google Scholar 

Suárez-Idueta L, Bedford H, Ohuma EO, Cortina-Borja M. Maternal risk factors for small-for-gestational-age newborns in Mexico: analysis of a nationwide representative cohort. Front Public Health. 2021;9:707078.

Article  Google Scholar 

Wu AC, McMahon P, Lu C. Ending the diagnostic odyssey-is whole-genome sequencing the answer? JAMA Pediatr. 2020;174:821–2.

Article  PubMed  PubMed Central  Google Scholar 

Hays T, Wapner RJ. Genetic testing for unexplained perinatal disorders. Curr Opin Pediatr. 2021;33:195–202.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Meler E, Sisterna S, Borrell A. Genetic syndromes associated with isolated fetal growth restriction. Prenat Diagn. 2020;40:432–46.

Article  PubMed  Google Scholar 

Nowakowska BA, Pankiewicz K, Nowacka U, Niemiec M, Kozłowski S, Issat T. Genetic background of fetal growth restriction. Int J Mol Sci. 2021;23:36.

Park SJ, Lee N, Jeong SH, Jeong MH, Byun SY, Park KH. Genetic aspects of small for gestational age infants using targeted-exome sequencing and whole-exome sequencing: a single center study. J Clin Med. 2022;11:3710.

Comments (0)

No login
gif