{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T07:09:56Z","timestamp":1793862596658,"version":"4.6.1"},"reference-count":78,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T00:00:00Z","timestamp":1750896000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T00:00:00Z","timestamp":1750896000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/100009633","name":"U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["K23HD113827"],"award-info":[{"award-number":["K23HD113827"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Perinatol"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1038\/s41372-025-02343-9","type":"journal-article","created":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T07:46:57Z","timestamp":1750924017000},"page":"1183-1190","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The role of genetic testing in small for gestational age infants"],"prefix":"10.1038","volume":"45","author":[{"given":"Eric","family":"Kalimi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1130-7302","authenticated-orcid":false,"given":"Brittany","family":"Wise-Oringer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J.","family":"Wapner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorraine","family":"Dugoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caitlin","family":"Baptiste","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Lyford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3705-8973","authenticated-orcid":false,"given":"Thomas","family":"Hays","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,6,26]]},"reference":[{"key":"2343_CR1","doi-asserted-by":"publisher","first-page":"804","DOI":"10.1210\/jc.2006-2017","volume":"92","author":"PE Clayton","year":"2007","unstructured":"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\u201310.","journal-title":"J Clin Endocrinol Metab"},{"key":"2343_CR2","doi-asserted-by":"crossref","unstructured":"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.","DOI":"10.1542\/peds.2019-0076"},{"key":"2343_CR3","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1210\/endrev\/bnad002","volume":"44","author":"ACS Hokken-Koelega","year":"2023","unstructured":"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\u201365.","journal-title":"Endocr Rev"},{"key":"2343_CR4","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1210\/er.2018-00083","volume":"39","author":"MJJ Finken","year":"2018","unstructured":"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\u201394.","journal-title":"Endocr Rev"},{"key":"2343_CR5","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1542\/peds.86.5.707","volume":"86","author":"MS Kramer","year":"1990","unstructured":"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\u201313.","journal-title":"Pediatrics"},{"key":"2343_CR6","doi-asserted-by":"publisher","first-page":"e2331011","DOI":"10.1001\/jamanetworkopen.2023.31011","volume":"6","author":"R Dang","year":"2023","unstructured":"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.","journal-title":"JAMA Netw Open"},{"key":"2343_CR7","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1111\/1471-0528.12517","volume":"121","author":"GL Malin","year":"2014","unstructured":"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\u201326.","journal-title":"BJOG"},{"key":"2343_CR8","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1016\/j.jpeds.2010.05.002","volume":"157","author":"J Zeitlin","year":"2010","unstructured":"Zeitlin J, El Ayoubi M, Jarreau PH, Draper ES, Blondel B, K\u00fcnzel W, et al. Impact of fetal growth restriction on mortality and morbidity in a very preterm birth cohort. J Pediatr. 2010;157:733\u20139.e1.","journal-title":"J Pediatr"},{"key":"2343_CR9","doi-asserted-by":"crossref","unstructured":"Boghossian NS, Geraci M, Edwards EM, Horbar JD. Morbidity and mortality in small for gestational age infants at 22 to 29 weeks\u2019 gestation. Pediatrics. 2018;141:e20172533.","DOI":"10.1542\/peds.2017-2533"},{"key":"2343_CR10","doi-asserted-by":"publisher","first-page":"F192","DOI":"10.1136\/archdischild-2017-314171","volume":"104","author":"EA Jensen","year":"2019","unstructured":"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\u2013F8.","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"2343_CR11","doi-asserted-by":"crossref","unstructured":"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\u2013487.e14.","DOI":"10.1016\/j.ajog.2024.09.101"},{"key":"2343_CR12","doi-asserted-by":"publisher","first-page":"F473","DOI":"10.1136\/adc.2006.107094","volume":"92","author":"MH Malloy","year":"2007","unstructured":"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\u20138.","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"2343_CR13","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1515\/jpm-2017-0103","volume":"46","author":"T Premru-Srsen","year":"2018","unstructured":"Premru-Srsen T, Verdenik I, Ponikvar BM, Steblovnik L, Ger\u0161ak 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\u201353.","journal-title":"J Perinat Med"},{"key":"2343_CR14","doi-asserted-by":"crossref","unstructured":"Altman M, Edstedt Bonamy AK, Wikstr\u00f6m 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.","DOI":"10.1136\/bmjopen-2012-001152"},{"key":"2343_CR15","doi-asserted-by":"publisher","first-page":"e210","DOI":"10.1097\/MD.0000000000000210","volume":"93","author":"J Liu","year":"2014","unstructured":"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.","journal-title":"Medicine"},{"key":"2343_CR16","doi-asserted-by":"publisher","first-page":"772","DOI":"10.1001\/jamapediatrics.2020.1097","volume":"174","author":"C Sacchi","year":"2020","unstructured":"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\u201381.","journal-title":"JAMA Pediatr"},{"key":"2343_CR17","doi-asserted-by":"publisher","first-page":"9","DOI":"10.6065\/apem.2018.23.1.9","volume":"23","author":"HK Nam","year":"2018","unstructured":"Nam HK, Lee KH. Small for gestational age and obesity: epidemiology and general risks. Ann Pediatr Endocrinol Metab. 2018;23:9\u201313.","journal-title":"Ann Pediatr Endocrinol Metab"},{"key":"2343_CR18","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1159\/000353759","volume":"80","author":"R Verkauskiene","year":"2013","unstructured":"Verkauskiene R, Petraitiene I, Albertsson Wikland K. Puberty in children born small for gestational age. Horm Res Paediatr. 2013;80:69\u201377.","journal-title":"Horm Res Paediatr"},{"key":"2343_CR19","first-page":"112","volume":"65","author":"L Ib\u00e1\u00f1ez","year":"2006","unstructured":"Ib\u00e1\u00f1ez L, de Zegher F. Puberty after prenatal growth restraint. Horm Res. 2006;65:112\u20135.","journal-title":"Horm Res"},{"key":"2343_CR20","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1542\/peds.50.3.403","volume":"50","author":"HP Chase","year":"1972","unstructured":"Chase HP, Welch NN, Dabiere CS, Vasan NS, Butterfield LJ. Alterations in human brain biochemistry following intrauterine growth retardation. Pediatrics. 1972;50:403\u201311.","journal-title":"Pediatrics"},{"key":"2343_CR21","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1203\/01.PDR.0000128983.54614.7E","volume":"56","author":"CB Tolsa","year":"2004","unstructured":"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\u20138.","journal-title":"Pediatr Res"},{"key":"2343_CR22","doi-asserted-by":"publisher","first-page":"e24116","DOI":"10.1371\/journal.pone.0024116","volume":"6","author":"HM De Bie","year":"2011","unstructured":"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.","journal-title":"PLoS One"},{"key":"2343_CR23","doi-asserted-by":"publisher","first-page":"1167","DOI":"10.1542\/peds.98.6.1167","volume":"98","author":"CM McCarton","year":"1996","unstructured":"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\u201378.","journal-title":"Pediatrics"},{"key":"2343_CR24","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1542\/peds.97.1.18","volume":"97","author":"MC McCormick","year":"1996","unstructured":"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\u201325.","journal-title":"Pediatrics"},{"key":"2343_CR25","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1542\/peds.108.1.111","volume":"108","author":"B Larroque","year":"2001","unstructured":"Larroque B, Bertrais S, Czernichow P, L\u00e9ger 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\u20135.","journal-title":"Pediatrics"},{"key":"2343_CR26","doi-asserted-by":"publisher","first-page":"1138","DOI":"10.1111\/j.1651-2227.2003.tb02473.x","volume":"92","author":"EM Lundgren","year":"2003","unstructured":"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\u201343.","journal-title":"Acta Paediatr"},{"key":"2343_CR27","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/j.jpeds.2016.05.027","volume":"175","author":"I Guellec","year":"2016","unstructured":"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\u20139.e1.","journal-title":"J Pediatr"},{"key":"2343_CR28","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1016\/j.bpobgyn.2009.06.003","volume":"23","author":"L McCowan","year":"2009","unstructured":"McCowan L, Horgan RP. Risk factors for small for gestational age infants. Best Pr Res Clin Obstet Gynaecol. 2009;23:779\u201393.","journal-title":"Best Pr Res Clin Obstet Gynaecol"},{"key":"2343_CR29","doi-asserted-by":"crossref","unstructured":"Fetal growth restriction: ACOG practice bulletin, Number 227. Obstet Gynecol. 2021;137:e16\u2013e28.","DOI":"10.1097\/AOG.0000000000004251"},{"key":"2343_CR30","doi-asserted-by":"publisher","DOI":"10.1016\/j.isci.2024.109702","volume":"27","author":"ER Brown","year":"2024","unstructured":"Brown ER, Giussani DA. Cause of fetal growth restriction during high-altitude pregnancy. iScience. 2024;27:109702.","journal-title":"iScience"},{"key":"2343_CR31","first-page":"917","volume":"91","author":"CV Ananth","year":"1998","unstructured":"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\u201324.","journal-title":"Obstet Gynecol"},{"key":"2343_CR32","doi-asserted-by":"publisher","first-page":"1243","DOI":"10.1007\/s00404-022-06598-x","volume":"307","author":"G Pierdant","year":"2023","unstructured":"Pierdant G, Ittermann T, Freyer-Adam J, Siewert-Markus U, Grabe HJ, D\u00f6rr 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\u201354.","journal-title":"Arch Gynecol Obstet"},{"key":"2343_CR33","doi-asserted-by":"publisher","first-page":"707078","DOI":"10.3389\/fpubh.2021.707078","volume":"9","author":"L Su\u00e1rez-Idueta","year":"2021","unstructured":"Su\u00e1rez-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.","journal-title":"Front Public Health"},{"key":"2343_CR34","doi-asserted-by":"publisher","first-page":"821","DOI":"10.1001\/jamapediatrics.2020.1522","volume":"174","author":"AC Wu","year":"2020","unstructured":"Wu AC, McMahon P, Lu C. Ending the diagnostic odyssey-is whole-genome sequencing the answer? JAMA Pediatr. 2020;174:821\u20132.","journal-title":"JAMA Pediatr"},{"key":"2343_CR35","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1097\/MOP.0000000000000999","volume":"33","author":"T Hays","year":"2021","unstructured":"Hays T, Wapner RJ. Genetic testing for unexplained perinatal disorders. Curr Opin Pediatr. 2021;33:195\u2013202.","journal-title":"Curr Opin Pediatr"},{"key":"2343_CR36","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1002\/pd.5635","volume":"40","author":"E Meler","year":"2020","unstructured":"Meler E, Sisterna S, Borrell A. Genetic syndromes associated with isolated fetal growth restriction. Prenat Diagn. 2020;40:432\u201346.","journal-title":"Prenat Diagn"},{"key":"2343_CR37","doi-asserted-by":"crossref","unstructured":"Nowakowska BA, Pankiewicz K, Nowacka U, Niemiec M, Koz\u0142owski S, Issat T. Genetic background of fetal growth restriction. Int J Mol Sci. 2021;23:36.","DOI":"10.3390\/ijms23010036"},{"key":"2343_CR38","doi-asserted-by":"crossref","unstructured":"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.","DOI":"10.3390\/jcm11133710"},{"key":"2343_CR39","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1159\/000481777","volume":"89","author":"TK Homma","year":"2018","unstructured":"Homma TK, Krepischi ACV, Furuya TK, Honjo RS, Malaquias AC, Bertola DR, et al. Recurrent copy number variants associated with syndromic short stature of unknown cause. Horm Res Paediatr. 2018;89:13\u201321.","journal-title":"Horm Res Paediatr"},{"key":"2343_CR40","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1159\/000367712","volume":"82","author":"JM Wit","year":"2014","unstructured":"Wit JM, van Duyvenvoorde HA, van Klinken JB, Caliebe J, Bosch CA, Lui JC, et al. Copy number variants in short children born small for gestational age. Horm Res Paediatr. 2014;82:310\u20138.","journal-title":"Horm Res Paediatr"},{"key":"2343_CR41","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1530\/EJE-14-0232","volume":"171","author":"AP Canton","year":"2014","unstructured":"Canton AP, Costa SS, Rodrigues TC, Bertola DR, Malaquias AC, Correa FA, et al. Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways. Eur J Endocrinol. 2014;171:253\u201362.","journal-title":"Eur J Endocrinol"},{"key":"2343_CR42","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1186\/s13039-018-0382-4","volume":"11","author":"G An","year":"2018","unstructured":"An G, Lin Y, Xu LP, Huang HL, Liu SP, Yu YH, et al. Application of chromosomal microarray to investigate genetic causes of isolated fetal growth restriction. Mol Cytogenet. 2018;11:33.","journal-title":"Mol Cytogenet"},{"key":"2343_CR43","doi-asserted-by":"publisher","first-page":"676.e1","DOI":"10.1016\/j.ajog.2021.05.035","volume":"225","author":"I Monier","year":"2021","unstructured":"Monier I, Receveur A, Houfflin-Debarge V, Goua V, Castaigne V, Jouannic JM, et al. Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French multicenter study. Am J Obstet Gynecol. 2021;225:676.e1\u201315.","journal-title":"Am J Obstet Gynecol"},{"key":"2343_CR44","doi-asserted-by":"crossref","unstructured":"Mone F, Mellis R, Gabriel H, Baptiste C, Giordano J, Wapner R, et al. Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis. Am J Obstet Gynecol. 2023;228:409\u2013417.e4.","DOI":"10.1016\/j.ajog.2022.09.045"},{"key":"2343_CR45","doi-asserted-by":"publisher","first-page":"1805","DOI":"10.1111\/1471-0528.17164","volume":"129","author":"M Aliasi","year":"2022","unstructured":"Aliasi M, Snoep MC, van Geloven N, Haak MC. Birthweight and isolated congenital heart defects-a systematic review and meta-analysis. BJOG. 2022;129:1805\u201316.","journal-title":"BJOG"},{"key":"2343_CR46","doi-asserted-by":"publisher","first-page":"e2659","DOI":"10.1097\/MD.0000000000002659","volume":"95","author":"YL Tain","year":"2016","unstructured":"Tain YL, Luh H, Lin CY, Hsu CN. Incidence and risks of congenital anomalies of kidney and urinary tract in newborns: a population-based case-control study in Taiwan. Medicine. 2016;95:e2659.","journal-title":"Medicine"},{"key":"2343_CR47","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2022.31626","volume":"5","author":"T Hays","year":"2022","unstructured":"Hays T, Thompson MV, Bateman DA, Sahni R, Tolia VN, Clark RH, et al. The prevalence and clinical significance of congenital anomalies of the kidney and urinary tract in preterm infants. JAMA Netw Open. 2022;5:e2231626.","journal-title":"JAMA Netw Open"},{"key":"2343_CR48","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1186\/1746-1596-5-24","volume":"5","author":"F Barut","year":"2010","unstructured":"Barut F, Barut A, Gun BD, Kandemir NO, Harma MI, Harma M, et al. Intrauterine growth restriction and placental angiogenesis. Diagn Pathol. 2010;5:24.","journal-title":"Diagn Pathol"},{"key":"2343_CR49","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2023-078325","volume":"14","author":"J Li","year":"2024","unstructured":"Li J, Pan Y, Zheng Q, Chen X, Jiang X, Liu R, et al. Risk factors and glycaemic control in small-for-gestational-age infants born to mothers with gestational diabetes mellitus: a case-control study using propensity score matching based on a large population. BMJ Open. 2024;14:e078325.","journal-title":"BMJ Open"},{"key":"2343_CR50","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1097\/GIM.0b013e3181a7e8f8","volume":"11","author":"LH Seaver","year":"2009","unstructured":"Seaver LH, Irons M. ACMG practice guideline: genetic evaluation of short stature. Genet Med. 2009;11:465\u201370.","journal-title":"Genet Med"},{"key":"2343_CR51","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1038\/s41436-020-01046-0","volume":"23","author":"CS Mintz","year":"2021","unstructured":"Mintz CS, Seaver LH, Irons M, Grimberg A, Lozano R. Focused revision: ACMG practice resource: genetic evaluation of short stature. Genet Med. 2021;23:813\u20135.","journal-title":"Genet Med"},{"key":"2343_CR52","doi-asserted-by":"publisher","first-page":"B2","DOI":"10.1016\/j.ajog.2020.05.010","volume":"223","author":"JG Martins","year":"2020","unstructured":"Martins JG, Biggio JR, Abuhamad A. Society for maternal-fetal medicine consult series #52: diagnosis and management of fetal growth restriction: (Replaces Clinical Guideline Number 3, April 2012). Am J Obstet Gynecol. 2020;223:B2\u2013b17.","journal-title":"Am J Obstet Gynecol"},{"key":"2343_CR53","doi-asserted-by":"publisher","first-page":"2029","DOI":"10.1038\/s41436-021-01242-6","volume":"23","author":"K Manickam","year":"2021","unstructured":"Manickam K, McClain MR, Demmer LA, Biswas S, Kearney HM, Malinowski J, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23:2029\u201337.","journal-title":"Genet Med"},{"key":"2343_CR54","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1016\/j.jpeds.2021.07.020","volume":"238","author":"E Nissan","year":"2021","unstructured":"Nissan E, Katz U, Levy-Shraga Y, Frizinsky S, Carmel E, Gothelf D, et al. Clinical features in a large cohort of patients with 22q11.2 deletion syndrome. J Pediatr. 2021;238:215\u201320.e5.","journal-title":"J Pediatr"},{"key":"2343_CR55","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/j.jpeds.2012.12.097","volume":"163","author":"LC De Jesus","year":"2013","unstructured":"De Jesus LC, Pappas A, Shankaran S, Li L, Das A, Bell EF, et al. Outcomes of small for gestational age infants born at <27 weeks\u2019 gestation. J Pediatr. 2013;163:55\u201360.e1-3.","journal-title":"J Pediatr"},{"key":"2343_CR56","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1016\/j.ajog.2004.01.036","volume":"191","author":"TJ Garite","year":"2004","unstructured":"Garite TJ, Clark R, Thorp JA. Intrauterine growth restriction increases morbidity and mortality among premature neonates. Am J Obstet Gynecol. 2004;191:481\u20137.","journal-title":"Am J Obstet Gynecol"},{"key":"2343_CR57","first-page":"323","volume":"34","author":"H Mendez-Figueroa","year":"2017","unstructured":"Mendez-Figueroa H, Truong VT, Pedroza C, Chauhan SP. Morbidity and mortality in small-for-gestational-age infants: a secondary analysis of nine MFMU network studies. Am J Perinatol. 2017;34:323\u201332.","journal-title":"Am J Perinatol"},{"key":"2343_CR58","doi-asserted-by":"publisher","first-page":"1019","DOI":"10.1542\/peds.2011-3028","volume":"129","author":"JD Horbar","year":"2012","unstructured":"Horbar JD, Carpenter JH, Badger GJ, Kenny MJ, Soll RF, Morrow KA, et al. Mortality and neonatal morbidity among infants 501 to 1500 grams from 2000 to 2009. Pediatrics. 2012;129:1019\u201326.","journal-title":"Pediatrics"},{"key":"2343_CR59","doi-asserted-by":"publisher","first-page":"1008","DOI":"10.1038\/jp.2016.118","volume":"36","author":"RJ Baer","year":"2016","unstructured":"Baer RJ, Rogers EE, Partridge JC, Anderson JG, Morris M, Kuppermann M, et al. Population-based risks of mortality and preterm morbidity by gestational age and birth weight. J Perinatol. 2016;36:1008\u201313.","journal-title":"J Perinatol"},{"key":"2343_CR60","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1038\/s41372-022-01544-w","volume":"43","author":"KC Minor","year":"2023","unstructured":"Minor KC, Bianco K, Sie L, Druzin ML, Lee HC, Leonard SA. Severity of small-for-gestational-age and morbidity and mortality among very preterm neonates. J Perinatol. 2023;43:437\u201344.","journal-title":"J Perinatol"},{"key":"2343_CR61","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1016\/j.ajhg.2019.08.009","volume":"105","author":"SF Kingsmore","year":"2019","unstructured":"Kingsmore SF, Cakici JA, Clark MM, Gaughran M, Feddock M, Batalov S, et al. A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in Ill infants. Am J Hum Genet. 2019;105:719\u201333.","journal-title":"Am J Hum Genet"},{"key":"2343_CR62","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1001\/jama.2023.9350","volume":"330","author":"JL Maron","year":"2023","unstructured":"Maron JL, Kingsmore S, Gelb BD, Vockley J, Wigby K, Bragg J, et al. Rapid whole-genomic sequencing and a targeted neonatal gene panel in infants with a suspected genetic disorder. JAMA. 2023;330:161\u20139.","journal-title":"JAMA"},{"key":"2343_CR63","doi-asserted-by":"publisher","first-page":"e240146","DOI":"10.1001\/jamanetworkopen.2024.0146","volume":"7","author":"D Marom","year":"2024","unstructured":"Marom D, Mory A, Reytan-Miron S, Amir Y, Kurolap A, Cohen JG, et al. National rapid genome sequencing in neonatal intensive care. JAMA Netw Open. 2024;7:e240146.","journal-title":"JAMA Netw Open"},{"key":"2343_CR64","doi-asserted-by":"publisher","first-page":"1231","DOI":"10.1016\/j.ajhg.2021.05.008","volume":"108","author":"D Dimmock","year":"2021","unstructured":"Dimmock D, Caylor S, Waldman B, Benson W, Ashburner C, Carmichael JL, et al. Project Baby Bear: rapid precision care incorporating rWGS in 5 California children\u2019s hospitals demonstrates improved clinical outcomes and reduced costs of care. Am J Hum Genet. 2021;108:1231\u20138.","journal-title":"Am J Hum Genet"},{"key":"2343_CR65","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1177\/001316446002000104","volume":"20","author":"J Cohen","year":"1960","unstructured":"Cohen J. A Coefficient of Agreement for Nominal Scales. Educ Psychological Meas. 1960;20:37\u201346.","journal-title":"Educ Psychological Meas"},{"key":"2343_CR66","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405\u201324.","journal-title":"Genet Med"},{"key":"2343_CR67","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-14-128","volume":"14","author":"EY Chen","year":"2013","unstructured":"Chen EY, Tan CM, Kou Y, Duan Q, Wang Z, Meirelles GV, et al. Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool. BMC Bioinforma. 2013;14:128.","journal-title":"BMC Bioinforma"},{"key":"2343_CR68","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1016\/j.ajhg.2008.09.017","volume":"83","author":"PN Robinson","year":"2008","unstructured":"Robinson PN, K\u00f6hler S, Bauer S, Seelow D, Horn D, Mundlos S. The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet. 2008;83:610\u20135.","journal-title":"Am J Hum Genet"},{"key":"2343_CR69","doi-asserted-by":"publisher","first-page":"D1333","DOI":"10.1093\/nar\/gkad1005","volume":"52","author":"MA Gargano","year":"2024","unstructured":"Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, et al. The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Res. 2024;52:D1333\u2013d46.","journal-title":"Nucleic Acids Res"},{"key":"2343_CR70","doi-asserted-by":"crossref","unstructured":"Cao J, O\u2019Day DR, Pliner HA, Kingsley PD, Deng M, Daza RM, et al. A human cell atlas of fetal gene expression. Science. 2020;370:eaba7721.","DOI":"10.1126\/science.aba7721"},{"key":"2343_CR71","unstructured":"Pellegrino S. The Gini coefficient: its origins. In: Torino UDSD, editor. Quaderni del Dipartimento di Scienze. Turin, Italy; 2020."},{"key":"2343_CR72","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1016\/j.ejogrb.2017.02.025","volume":"211","author":"YC Lu","year":"2017","unstructured":"Lu YC, Huang LY, Yan JM, Zhang Y, Li DZ. Whole-exome sequencing identifies compound heterozygous LHX4 mutations in a fetus with early-onset growth restriction. Eur J Obstet Gynecol Reprod Biol. 2017;211:225\u20137.","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"key":"2343_CR73","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1159\/000530521","volume":"97","author":"L Toni","year":"2024","unstructured":"Toni L, Plachy L, Dusatkova P, Amaratunga SA, Elblova L, Sumnik Z, et al. The Genetic Landscape of Children Born Small for Gestational Age with Persistent Short Stature. Horm Res Paediatr. 2024;97:40\u201352.","journal-title":"Horm Res Paediatr"},{"key":"2343_CR74","doi-asserted-by":"publisher","first-page":"1809","DOI":"10.1126\/science.278.5344.1809","volume":"278","author":"HZ Sheng","year":"1997","unstructured":"Sheng HZ, Moriyama K, Yamashita T, Li H, Potter SS, Mahon KA, et al. Multistep control of pituitary organogenesis. Science. 1997;278:1809\u201312.","journal-title":"Science"},{"key":"2343_CR75","unstructured":"Saal HM, Harbison MD, Netchine I. Silver-Russell Syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(\u00ae). Seattle, WA: University of Washington; 1993."},{"key":"2343_CR76","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1111\/cge.12586","volume":"89","author":"N Miyake","year":"2016","unstructured":"Miyake N, Tsurusaki Y, Koshimizu E, Okamoto N, Kosho T, Brown NJ, et al. Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. Clin Genet. 2016;89:115\u20139.","journal-title":"Clin Genet"},{"key":"2343_CR77","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1007\/s00439-004-1134-6","volume":"115","author":"ET Tonkin","year":"2004","unstructured":"Tonkin ET, Smith M, Eichhorn P, Jones S, Imamwerdi B, Lindsay S, et al. A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Hum Genet. 2004;115:139\u201348.","journal-title":"Hum Genet"},{"key":"2343_CR78","doi-asserted-by":"crossref","unstructured":"Tilemis FN, Marinakis NM, Veltra D, Svingou M, Kekou K, Mitrakos A, et al. Germline CNV detection through whole-exome sequencing (WES) data analysis enhances resolution of rare genetic diseases. Genes. 2023;14:1490.","DOI":"10.3390\/genes14071490"}],"container-title":["Journal of Perinatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41372-025-02343-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41372-025-02343-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41372-025-02343-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T15:03:44Z","timestamp":1757948624000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41372-025-02343-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,26]]},"references-count":78,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["2343"],"URL":"https:\/\/doi.org\/10.1038\/s41372-025-02343-9","relation":{},"ISSN":["0743-8346","1476-5543"],"issn-type":[{"value":"0743-8346","type":"print"},{"value":"1476-5543","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,26]]},"assertion":[{"value":"28 February 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 May 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 June 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 June 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}