{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T22:22:54Z","timestamp":1790547774957,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,5,12]],"date-time":"2016-05-12T00:00:00Z","timestamp":1463011200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in <jats:italic>CHD7<\/jats:italic>. Diagnostic criteria have been proposed to improve diagnosis in fetuses at clinicopathological survey, but no criteria exist for fetal diagnosis during pregnancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We collected prenatal findings of 12 children with CHARGE syndrome diagnosed in the first 3\u2009months and a <jats:italic>CHD7<\/jats:italic> mutation. We retrieved data on prenatal ultrasound (US) follow\u2010up, fetal supplementary investigations, and results of postnatal evaluation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Result<\/jats:title><jats:p>Seven pregnancies were complicated by the identification of isolated or multiple congenital anomalies. CHARGE syndrome was suspected in three fetuses but could not be confirmed despite additional examinations. Retrospectively, several postnatal findings could have been seen if they had been specifically searched. Intrauterine growth restriction, previously proposed as an exclusion criterion, complicated two pregnancies and is thus compatible with the diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Diagnosis of CHARGE syndrome remains difficult during pregnancy. If the diagnosis of CHARGE syndrome is raised <jats:italic>in utero<\/jats:italic>, we suggest a careful US examination to identify typical external ears, choanal atresia, or microphthalmia. Fetal brain magnetic resonance imaging can be helpful, but a normal result does not exclude the diagnosis. When CHARGE syndrome is highly suspected, <jats:italic>CHD7<\/jats:italic> molecular analysis must be proposed to confirm the diagnosis. \u00a9 2016 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4825","type":"journal-article","created":{"date-parts":[[2016,4,10]],"date-time":"2016-04-10T18:55:48Z","timestamp":1460314548000},"page":"561-567","source":"Crossref","is-referenced-by-count":36,"title":["Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome"],"prefix":"10.1002","volume":"36","author":[{"given":"Tiffany","family":"Busa","sequence":"first","affiliation":[{"name":"Unit\u00e9 de g\u00e9n\u00e9tique clinique APHM, CHU Timone\u2010Enfants  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Legendre","sequence":"additional","affiliation":[{"name":"D\u00e9partement de g\u00e9n\u00e9tique CHU Poitiers  Poitiers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Bauge","sequence":"additional","affiliation":[{"name":"Centre pluridisciplinaire de diagnostic pr\u00e9natal APHM, CHU Timone\u2010Enfants  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin","family":"Quarello","sequence":"additional","affiliation":[{"name":"Unit\u00e9 d'Echographies Obst\u00e9tricales H\u00f4pital Saint\u2010Joseph  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Bretelle","sequence":"additional","affiliation":[{"name":"Centre pluridisciplinaire de diagnostic pr\u00e9natal APHM, CHU Timone\u2010Enfants  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Bilan","sequence":"additional","affiliation":[{"name":"D\u00e9partement de g\u00e9n\u00e9tique CHU Poitiers  Poitiers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Sigaudy","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de g\u00e9n\u00e9tique clinique APHM, CHU Timone\u2010Enfants  Marseille France"},{"name":"Centre pluridisciplinaire de diagnostic pr\u00e9natal APHM, CHU Timone\u2010Enfants  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Gilbert\u2010Dussardier","sequence":"additional","affiliation":[{"name":"D\u00e9partement de g\u00e9n\u00e9tique CHU Poitiers  Poitiers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Philip","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de g\u00e9n\u00e9tique clinique APHM, CHU Timone\u2010Enfants  Marseille France"},{"name":"Centre pluridisciplinaire de diagnostic pr\u00e9natal APHM, CHU Timone\u2010Enfants  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,5,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80513-2"},{"issue":"2","key":"e_1_2_5_3_1","doi-asserted-by":"crossref","first-page":"122","DOI":"10.3928\/0191-3913-19790301-10","article-title":"Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation \u2013 a syndrome","volume":"16","author":"Hittner HM","year":"1979","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80454-4"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30560"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22086"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30559"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087106"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036061"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedn.2014.09.008"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3876"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100926"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37435"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2011.08.003"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.113.000054"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30563"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32297"},{"issue":"5","key":"e_1_2_5_20_1","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1159\/000351127","article-title":"More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated","volume":"4","author":"Corsten\u2010Janssen N","year":"2013","journal-title":"Mol Syndromol"},{"key":"e_1_2_5_21_1","unstructured":"LalaniSR HefnerMA BelmontJW DavenportSLH.CHARGE Syndrome. 2006 Oct 2 [updated 2012 Feb 2]. In: Pagon RA Adam MP Ardinger HH Wallace SE Amemiya A Bean LJH Bird TD Fong CT Mefford HC Smith RJH Stephens K editors. GeneReviews\u00ae[Internet]. Seattle (WA): University of Washington Seattle;1993\u20132015. Available fromhttp:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1117\/"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.4825","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.4825","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.4825","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T14:37:58Z","timestamp":1695739078000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.4825"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,12]]},"references-count":20,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,6]]}},"alternative-id":["10.1002\/pd.4825"],"URL":"https:\/\/doi.org\/10.1002\/pd.4825","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,12]]}}}