{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T14:39:10Z","timestamp":1761489550471},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,7,26]],"date-time":"2015-07-26T00:00:00Z","timestamp":1437868800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Holoprosencephaly (<jats:styled-content style=\"fixed-case\">HPE<\/jats:styled-content>) is a rare brain abnormality characterized by an incomplete cleavage of the primitive prosencephalon of forebrain during early embryogenesis. To determine the clinical characteristics and outcome of fetuses with <jats:styled-content style=\"fixed-case\">HPE<\/jats:styled-content>, we retrospectively analyzed nine patients who were prenatally diagnosed as fetal <jats:styled-content style=\"fixed-case\">HPE<\/jats:styled-content> by ultrasounds. The mean diagnostic weeks were 20 weeks of gestation. Two cases died within one day after birth. The chromosomal examinations were performed in seven cases (trisomy 18: <jats:italic>n<\/jats:italic>\u2009=\u20092; trisomy 13: <jats:italic>n<\/jats:italic>\u2009=\u20092; 45,<jats:styled-content style=\"fixed-case\">XX<\/jats:styled-content>,der(18)t(18;21)(p10;p10)mat: <jats:italic>n<\/jats:italic>\u2009=\u20091; normal karyotype: <jats:italic>n<\/jats:italic>\u2009=\u20092). In our <jats:styled-content style=\"fixed-case\">HPE<\/jats:styled-content> cases, most cases had serious facial anomalies and poor prognosis. Our data suggested that the early prenatal diagnosis of <jats:styled-content style=\"fixed-case\">HPE<\/jats:styled-content> allowed time for parental counseling and delivery planning.<\/jats:p>","DOI":"10.1111\/cga.12103","type":"journal-article","created":{"date-parts":[[2015,1,26]],"date-time":"2015-01-26T08:10:11Z","timestamp":1422259811000},"page":"161-163","source":"Crossref","is-referenced-by-count":7,"title":["Prenatal findings of holoprosencephaly"],"prefix":"10.1111","volume":"55","author":[{"given":"Yuko","family":"Hayashi","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Nagoya City University Graduate School of Medical Sciences  Nagoya Japan"},{"name":"Division of Clinical and Molecular Genetics Nagoya City University Graduate School of Medical Sciences  Nagoya Japan"},{"name":"Department of Obstetrics and Gynecology Nagoya East Medical Center  Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuhiro","family":"Suzumori","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Nagoya City University Graduate School of Medical Sciences  Nagoya Japan"},{"name":"Division of Clinical and Molecular Genetics Nagoya City University Graduate School of Medical Sciences  Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tokio","family":"Sugiura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neonatology Nagoya City University Graduate School of Medical Sciences  Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mayumi","family":"Sugiura\u2010Ogasawara","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Nagoya City University Graduate School of Medical Sciences  Nagoya Japan"},{"name":"Division of Clinical and Molecular Genetics Nagoya City University Graduate School of Medical Sciences  Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,7,26]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420400304"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.34.2.256"},{"key":"e_1_2_5_4_1","first-page":"36","article-title":"Molecular prenatal diagnosis of a sporadic alobar holoprosencephalic fetus: genotype\u2010phenotype correlations","volume":"6","author":"Gekas J","year":"2012","journal-title":"J Prenat Med"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420160304"},{"key":"e_1_2_5_6_1","first-page":"294","article-title":"Holoprosencephaly: birth data, benetic and demographic analyses of 30 families","volume":"11","author":"Roach E","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.01.005"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2009.28.8.1077"},{"key":"e_1_2_5_9_1","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1159\/000341373","article-title":"High intellectual function in individuals with mutation\u2010positive microform holoprosencephaly","volume":"3","author":"Solomon BD","year":"2012","journal-title":"Mol Syndromol"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-014-9744-1"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12103","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12103","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T19:53:45Z","timestamp":1695498825000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12103"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,26]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["10.1111\/cga.12103"],"URL":"https:\/\/doi.org\/10.1111\/cga.12103","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,7,26]]}}}