{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T11:20:07Z","timestamp":1779189607241,"version":"3.51.4"},"reference-count":44,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T00:00:00Z","timestamp":1713398400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR\u201010\u2010IAHU\u201001"],"award-info":[{"award-number":["ANR\u201010\u2010IAHU\u201001"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR\u201021\u2010PMRB\u20100004"],"award-info":[{"award-number":["ANR\u201021\u2010PMRB\u20100004"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001352","name":"National University of Singapore","doi-asserted-by":"publisher","award":["2021\u201005\u2010R\/UP\u2010NUS"],"award-info":[{"award-number":["2021\u201005\u2010R\/UP\u2010NUS"]}],"id":[{"id":"10.13039\/501100001352","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Here we trained an automatic phenotype assessment tool to recognize syndromic ears in two syndromes in fetuses\u2014=CHARGE and Mandibulo\u2010Facial Dysostosis Guion Almeida type (MFDGA)\u2014versus controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We trained an automatic model on all profile pictures of children diagnosed with genetically confirmed MFDGA and CHARGE syndromes, and a cohort of control patients, collected from 1981 to 2023 in Necker Hospital (Paris) with a visible external ear. The model consisted in extracting landmarks from photographs of external ears, in applying geometric morphometry methods, and in a classification step using machine learning. The approach was then tested on photographs of two groups of fetuses: controls and fetuses with CHARGE and MFDGA syndromes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The training set contained a total of 1489 ear photographs from 526 children. The validation set contained a total of 51 ear photographs from 51 fetuses. The overall accuracy was 72.6% (58.3%\u201384.1%, <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.001), and 76.4%, 74.9%, and 86.2% respectively for CHARGE, control and MFDGA fetuses. The area under the curves were 86.8%, 87.5%, and 90.3% respectively for CHARGE, controls, and MFDGA fetuses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report the first automatic fetal ear phenotyping model, with satisfactory classification performances. Further validations are required before using this approach as a diagnostic tool.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6577","type":"journal-article","created":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T16:39:35Z","timestamp":1713458375000},"page":"1150-1158","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Artificial intelligence\u2010based diagnosis in fetal pathology using external ear shapes"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7882-8287","authenticated-orcid":false,"given":"Quentin","family":"Hennocq","sequence":"first","affiliation":[{"name":"Imagine Institute INSERM UMR1163  Paris France"},{"name":"Service de Chirurgie Maxillo\u2010Faciale et Chirurgie Plastique H\u00f4pital Necker \u2013 Enfants Malades Assistance Publique \u2013 H\u00f4pitaux de Paris  Paris France"},{"name":"Centre de R\u00e9f\u00e9rence des Malformations Rares de la Face et de la Cavit\u00e9 Buccale MAFACE Fili\u00e8re Maladies Rares TeteCou  Paris France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 de Paris Cit\u00e9  Paris France"},{"name":"Laboratoire \u2018Forme et Croissance Du Cr\u00e2ne\u2019 H\u00f4pital Necker\u2010Enfants Malades Assistance Publique\u2010H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"Garcelon","sequence":"additional","affiliation":[{"name":"Imagine Institute INSERM UMR1163  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Bongibault","sequence":"additional","affiliation":[{"name":"Imagine Institute INSERM UMR1163  Paris France"},{"name":"Laboratoire \u2018Forme et Croissance Du Cr\u00e2ne\u2019 H\u00f4pital Necker\u2010Enfants Malades Assistance Publique\u2010H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Bouygues","sequence":"additional","affiliation":[{"name":"Imagine Institute INSERM UMR1163  Paris France"},{"name":"Laboratoire \u2018Forme et Croissance Du Cr\u00e2ne\u2019 H\u00f4pital Necker\u2010Enfants Malades Assistance Publique\u2010H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandrine","family":"Marlin","sequence":"additional","affiliation":[{"name":"Imagine Institute INSERM UMR1163  Paris France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 de Paris Cit\u00e9  Paris France"},{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares H\u00f4pital Necker \u2013 Enfants Malades Assistance Publique \u2013 H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanne","family":"Amiel","sequence":"additional","affiliation":[{"name":"Imagine Institute INSERM UMR1163  Paris France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 de Paris Cit\u00e9  Paris France"},{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares H\u00f4pital Necker \u2013 Enfants Malades Assistance Publique \u2013 H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucile","family":"Boutaud","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 de Paris Cit\u00e9  Paris France"},{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares H\u00f4pital Necker \u2013 Enfants Malades Assistance Publique \u2013 H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maxime","family":"Douillet","sequence":"additional","affiliation":[{"name":"Imagine Institute INSERM UMR1163  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[{"name":"Imagine Institute INSERM UMR1163  Paris France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 de Paris Cit\u00e9  Paris France"},{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares H\u00f4pital Necker \u2013 Enfants Malades Assistance Publique \u2013 H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00e8ronique","family":"Pingault","sequence":"additional","affiliation":[{"name":"Imagine Institute INSERM UMR1163  Paris France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 de Paris Cit\u00e9  Paris France"},{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares H\u00f4pital Necker \u2013 Enfants Malades Assistance Publique \u2013 H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnaud","family":"Picard","sequence":"additional","affiliation":[{"name":"Service de Chirurgie Maxillo\u2010Faciale et Chirurgie Plastique H\u00f4pital Necker \u2013 Enfants Malades Assistance Publique \u2013 H\u00f4pitaux de Paris  Paris France"},{"name":"Centre de R\u00e9f\u00e9rence des Malformations Rares de la Face et de la Cavit\u00e9 Buccale MAFACE Fili\u00e8re Maladies Rares TeteCou  Paris France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 de Paris Cit\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marl\u00e8e","family":"Rio","sequence":"additional","affiliation":[{"name":"Imagine Institute INSERM UMR1163  Paris France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 de Paris Cit\u00e9  Paris France"},{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares H\u00f4pital Necker \u2013 Enfants Malades Assistance Publique \u2013 H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1155-3626","authenticated-orcid":false,"given":"Tania","family":"Attie\u2010Bitach","sequence":"additional","affiliation":[{"name":"Imagine Institute INSERM UMR1163  Paris France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 de Paris Cit\u00e9  Paris France"},{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares H\u00f4pital Necker \u2013 Enfants Malades Assistance Publique \u2013 H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roman H.","family":"Khonsari","sequence":"additional","affiliation":[{"name":"Imagine Institute INSERM UMR1163  Paris France"},{"name":"Service de Chirurgie Maxillo\u2010Faciale et Chirurgie Plastique H\u00f4pital Necker \u2013 Enfants Malades Assistance Publique \u2013 H\u00f4pitaux de Paris  Paris France"},{"name":"Centre de R\u00e9f\u00e9rence des Malformations Rares de la Face et de la Cavit\u00e9 Buccale MAFACE Fili\u00e8re Maladies Rares TeteCou  Paris France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 de Paris Cit\u00e9  Paris France"},{"name":"Laboratoire \u2018Forme et Croissance Du Cr\u00e2ne\u2019 H\u00f4pital Necker\u2010Enfants Malades Assistance Publique\u2010H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2366-2344","authenticated-orcid":false,"given":"Nathalie","family":"Roux","sequence":"additional","affiliation":[{"name":"Imagine Institute INSERM UMR1163  Paris France"},{"name":"Facult\u00e9 de M\u00e9decine Universit\u00e9 de Paris Cit\u00e9  Paris France"},{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares H\u00f4pital Necker \u2013 Enfants Malades Assistance Publique \u2013 H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,4,18]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1814259"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.2018171820"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2019.1633"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamasurg.2019.4917"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591\u2010018\u20100279\u20100"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.808919"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41433\u2010021\u201001563\u20105"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21031042"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010019\u20100619\u2010z"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijom.2022.01.005"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.656"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62634"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100031\u20101299482"},{"key":"e_1_2_9_15_1","article-title":"Classification and diagnosis of ear malformations","volume":"6","author":"Bartel\u2010Friedrich S","year":"2008","journal-title":"GMS Curr Top Otorhinolaryngol Head Neck Surg"},{"issue":"4","key":"e_1_2_9_16_1","first-page":"801","article-title":"Prenatal screening for fetal chromosomal abnormalities using ear length and shape as an ultrasound marker","volume":"6","author":"Dudarewicz L","year":"2000","journal-title":"Med Sci Monit"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2017.11.008"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.903"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22517"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036160"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2018.02.019"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1109\/FG.2017.79"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/2041\u2010210X.13723"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63126"},{"key":"e_1_2_9_25_1","unstructured":"landmarker.io.The Menpo Project. Accessed March 20 2022.https:\/\/www.menpo.org\/landmarkerio\/"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.2466\/pr0.1966.19.1.3"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.2307\/2992207"},{"key":"e_1_2_9_28_1","doi-asserted-by":"crossref","unstructured":"McInnesL HealyJ MelvilleJ.UMAP: uniform manifold approximation and projection for dimension reduction. Published online September 17 2020.https:\/\/doi.org\/10.48550\/arXiv.1802.03426","DOI":"10.32614\/CRAN.package.uwot"},{"key":"e_1_2_9_29_1","unstructured":"R Core Team.European environment agency.2020. Accessed January 18 2023.https:\/\/www.eea.europa.eu\/data\u2010and\u2010maps\/indicators\/oxygen\u2010consuming\u2010substances\u2010in\u2010rivers\/r\u2010development\u2010core\u2010team\u20102006"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1145\/2939672.2939785"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.18637\/jss.v079.c02"},{"key":"e_1_2_9_32_1","volume-title":"Protocole Type D\u2019examen Autopsique Foetal ou N\u00e9onatal"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20101\u201034"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1159\/000497145"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104189"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102012\u2010100926"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4825"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5429"},{"key":"e_1_2_9_39_1","unstructured":"BatoolS.The developing human\u2010clinically oriented embryology by Keith L. Moore. Accessed 24 June 2023.https:\/\/www.academia.edu\/44502808\/The_Developing_Human_Clinically_Oriented_Embryology_by_Keith_L_Moore"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0301\u20105629(00)00206\u20104"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2011.30.9.1185"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0960\u20107692.2001.00558.x"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20102004\u2010813947"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0029\u20107844(98)00021\u20100"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260215"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6577","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,17]],"date-time":"2024-11-17T12:08:40Z","timestamp":1731845320000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6577"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,18]]},"references-count":44,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1002\/pd.6577"],"URL":"https:\/\/doi.org\/10.1002\/pd.6577","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,18]]},"assertion":[{"value":"2023-10-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}