{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T01:17:04Z","timestamp":1774574224627,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2019,9,11]],"date-time":"2019-09-11T00:00:00Z","timestamp":1568160000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fetal micrognathia can be detected early in pregnancy. Prognosis of micrognathia depends on the risk of respiratory distress at birth and on the long\u2010term risk of intellectual disability. The purpose of this study was to evaluate the long\u2010term prognosis of fetuses with prenatal diagnosis of micrognathia by estimating the prevalence and the severity of confirmed genetic diagnosis in our cohort. Our retrospective study included 41 fetuses with prenatal diagnosis of micrognathia referred to the multidisciplinary centers for prenatal diagnosis in Nice and Marseille, France, between 2006 and 2016. Fetal micrognathia was associated with cleft palate in 27 cases. A genetic cause was confirmed in 21 cases (67%). A chromosomal abnormality was present in 12 cases, including three copy\u2010number variations diagnosed by array CGH. Monogenic disorders were identified in nine cases, most often after birth. Fetuses with family history of micrognathia or Pierre Robin sequence had a favorable outcome. Prognosis was good for the fetuses without associated findings and normal chromosomal analysis, with the exception of one case with a postnatal diagnosis of mandibulofacial dysostosis with microcephaly. Prognostic was poor for the fetuses with additional ultrasound anomalies, as only 5 out of 28 children had a good outcome. Prenatal diagnosis of micrognathia is an indicator of a possible fetal pathology justifying multidisciplinary management. Our study confirms the necessity of performing prenatal array CGH. Use of high\u2010throughput gene sequencing in prenatal period could improve diagnostic performance, prenatal counseling, and adequate postnatal care.<\/jats:p>","DOI":"10.1002\/ajmg.a.61359","type":"journal-article","created":{"date-parts":[[2019,9,11]],"date-time":"2019-09-11T14:25:15Z","timestamp":1568211915000},"page":"2365-2373","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0712-2532","authenticated-orcid":false,"given":"Linda","family":"Mouthon","sequence":"first","affiliation":[{"name":"GH La Piti\u00e9 Salp\u00eatri\u00e8re\u2010Charles Foix, Medical Genetics  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4454-1979","authenticated-orcid":false,"given":"Tiffany","family":"Busa","sequence":"additional","affiliation":[{"name":"H\u00f4pital de la Timone, Medical Genetics  Marseille Provence\u2010Alpes\u2010C\u00f4te d'Azur France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence","family":"Bretelle","sequence":"additional","affiliation":[{"name":"H\u00f4pital de la Timone, Prenatal diagnosis  Marseille Provence\u2010Alpes\u2010C\u00f4te d'Azur France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Houda","family":"Karmous\u2010Benailly","sequence":"additional","affiliation":[{"name":"Hopital de l'Archet, Cytogenetics  Marseille Provence\u2010Alpes\u2010C\u00f4te d'Azur France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chantal","family":"Missirian","sequence":"additional","affiliation":[{"name":"H\u00f4pital de la Timone, Cytogenetics  Marseille Provence\u2010Alpes\u2010C\u00f4te d'Azur France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Philip","sequence":"additional","affiliation":[{"name":"H\u00f4pital de la Timone, Medical Genetics  Marseille Provence\u2010Alpes\u2010C\u00f4te d'Azur France"},{"name":"H\u00f4pital de la Timone, Prenatal diagnosis  Marseille Provence\u2010Alpes\u2010C\u00f4te d'Azur France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Sigaudy","sequence":"additional","affiliation":[{"name":"H\u00f4pital de la Timone, Medical Genetics  Marseille Provence\u2010Alpes\u2010C\u00f4te d'Azur France"},{"name":"H\u00f4pital de la Timone, Prenatal diagnosis  Marseille Provence\u2010Alpes\u2010C\u00f4te d'Azur France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,9,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3676"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12399"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1146"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5162"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2017.01.001"},{"key":"e_1_2_5_7_1","volume-title":"Smith's recognizable patterns of human malformations","author":"Jones K. 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