{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T17:38:25Z","timestamp":1787765905760,"version":"build-2784847793"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T00:00:00Z","timestamp":1693353600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["This study was partly supported by a grant from Fo"],"award-info":[{"award-number":["This study was partly supported by a grant from Fo"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To determine the frequency of genetic syndromes and childhood neurodevelopmental impairment in non\u2010malformed infants born at term with severely low birth weight and no evidence of placental insufficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This case series was constructed from the data of infants delivered at term between 2013 and 2018 with severely low birth weight, defined as birth weight more than 2.5 SD below the mean, with normal maternal and fetal Doppler (umbilical artery, fetal middle cerebral artery, cerebroplacental ratio and uterine artery)  and no maternal hypertensive disorder during pregnancy or fetal structural anomaly on prenatal ultrasound examination. Clinical exome sequencing and copy number variation (CNV) analysis were performed using DNA extracted from the children's saliva. Cognitive and psychomotor development was evaluated using the Bayley Scales of Infant and Toddler Development, 3<jats:sup>rd<\/jats:sup> edition or the Wechsler Intelligence Scale for Children, 5<jats:sup>th<\/jats:sup> edition tests, according to the child's age at testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among the 36\u2009405 infants born within the study period, 274 (0.75%) had a birth weight below \u20132.5\u2009SD, of whom 98 met the inclusion criteria. Among the 63 families contacted, seven (11%) reported a postnatal diagnosis of a genetic syndrome and a further 18 consented to participate in the study. Median gestational age at delivery was 38.0 (interquartile range (IQR), 37.3\u201338.5)\u2009weeks and median birth weight was 2020 (IQR, 1908\u20132248)\u00a0g. All 18 children showed a normal result on clinical exome sequencing and CNV analysis, but six (33%) obtained a low score on neurodevelopmental testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Non\u2010malformed severely small term infants with no clinical or Doppler signs of placental insufficiency present a high rate of genetic syndromes and neurodevelopmental impairment during childhood. \u00a9 2023 The Authors. Ultrasound in Obstetrics &amp; Gynecology published by John Wiley &amp; Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.26188","type":"journal-article","created":{"date-parts":[[2023,2,25]],"date-time":"2023-02-25T20:49:46Z","timestamp":1677358186000},"page":"361-368","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Postnatal genetic and neurodevelopmental assessment in infants born at term with severely low birth weight of non\u2010placental origin"],"prefix":"10.1002","volume":"62","author":[{"given":"M. F.","family":"Paz y Mi\u00f1o","sequence":"first","affiliation":[{"name":"BCNatal \u2010 Barcelona Center for Maternal\u2013Fetal and Neonatal Medicine Hospital Cl\u00ednic Barcelona and Hospital Sant Joan de D\u00e9u  Barcelona Catalonia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5740-4415","authenticated-orcid":false,"given":"M.","family":"Pauta","sequence":"additional","affiliation":[{"name":"IDIBAPS, University of Barcelona, Fetal i+D Fetal Medicine Research  Barcelona Catalonia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5975-9834","authenticated-orcid":false,"given":"E.","family":"Meler","sequence":"additional","affiliation":[{"name":"BCNatal \u2010 Barcelona Center for Maternal\u2013Fetal and Neonatal Medicine Hospital Cl\u00ednic Barcelona and Hospital Sant Joan de D\u00e9u  Barcelona Catalonia 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