{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,9]],"date-time":"2026-08-09T19:06:26Z","timestamp":1786302386720,"version":"build-2736575974"},"reference-count":25,"publisher":"The Endocrine Society","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Small for gestational age (SGA) can be the result of fetal growth restriction, which is associated with perinatal morbidity and mortality. Mechanisms that control prenatal growth are poorly understood.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>The aim of the current study was to gain more insight into prenatal growth failure and determine an effective diagnostic approach in SGA newborns. We hypothesized that one or more copy number variations (CNVs) and disturbed methylation and sequence variants may be present in genes associated with fetal growth.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>A prospective cohort study of subjects with a low birth weight for gestational age.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Setting<\/jats:title>\n                  <jats:p>The study was conducted at an academic pediatric research institute.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Patients<\/jats:title>\n                  <jats:p>A total of 21 SGA newborns with a mean birth weight below the first centile and a control cohort of 24 appropriate-for-gestational-age newborns were studied.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Interventions<\/jats:title>\n                  <jats:p>Array comparative genomic hybridization, genome-wide methylation studies, and exome sequencing were performed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Main Outcome Measures<\/jats:title>\n                  <jats:p>The numbers of CNVs, methylation disturbances, and sequence variants.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The genetic analyses demonstrated three CNVs, one systematically disturbed methylation pattern, and one sequence variant explaining SGA. Additional methylation disturbances and sequence variants were present in 20 patients. In 19 patients, multiple abnormalities were found.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Our results confirm the influence of a large number of mechanisms explaining dysregulation of fetal growth. We concluded that CNVs, methylation disturbances, and sequence variants all contribute to prenatal growth failure. These genetic workups can be an effective diagnostic approach in SGA newborns.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/jc.2017-01843","type":"journal-article","created":{"date-parts":[[2018,1,12]],"date-time":"2018-01-12T20:27:54Z","timestamp":1515788874000},"page":"917-925","source":"Crossref","is-referenced-by-count":40,"title":["Genetic Analyses in Small-for-Gestational-Age Newborns"],"prefix":"10.1210","volume":"103","author":[{"given":"Susanne E","family":"Stalman","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands"},{"name":"Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nita","family":"Solanky","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miho","family":"Ishida","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Alem\u00e1n-Charlet","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayeda","family":"Abu-Amero","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marielle","family":"Alders","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas","family":"Alvizi","sequence":"additional","affiliation":[{"name":"Centro de Pesquisas Sobre o Genoma Humano e C\u00e9lulas-Tronco, Instituto de Bioci\u00eancias, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Baird","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charalambos","family":"Demetriou","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, London, United 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Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcel M A M","family":"Mannens","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adi N","family":"Mul","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole A","family":"Nibbering","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Peskett","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Medicine, Institute of Child Health, University College London, 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