{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T02:38:00Z","timestamp":1771468680485,"version":"3.50.1"},"reference-count":41,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,1,29]],"date-time":"2023-01-29T00:00:00Z","timestamp":1674950400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Natural Science Foundation of China","award":["61772375"],"award-info":[{"award-number":["61772375"]}]},{"name":"National Natural Science Foundation of China","award":["61936013"],"award-info":[{"award-number":["61936013"]}]},{"name":"National Natural Science Foundation of China","award":["71921002"],"award-info":[{"award-number":["71921002"]}]},{"name":"National Natural Science Foundation of China","award":["202201010824"],"award-info":[{"award-number":["202201010824"]}]},{"name":"National Natural Science Foundation of China","award":["20221800905042"],"award-info":[{"award-number":["20221800905042"]}]},{"name":"National Natural Science Foundation of China","award":["2021A1515220070"],"award-info":[{"award-number":["2021A1515220070"]}]},{"name":"Basic and Applied Basic Research Project of Guangzhou Municiple Science and Technology Bureau","award":["61772375"],"award-info":[{"award-number":["61772375"]}]},{"name":"Basic and Applied Basic Research Project of Guangzhou Municiple Science and Technology Bureau","award":["61936013"],"award-info":[{"award-number":["61936013"]}]},{"name":"Basic and Applied Basic Research Project of Guangzhou Municiple Science and Technology Bureau","award":["71921002"],"award-info":[{"award-number":["71921002"]}]},{"name":"Basic and Applied Basic Research Project of Guangzhou Municiple Science and Technology Bureau","award":["202201010824"],"award-info":[{"award-number":["202201010824"]}]},{"name":"Basic and Applied Basic Research Project of Guangzhou Municiple Science and Technology Bureau","award":["20221800905042"],"award-info":[{"award-number":["20221800905042"]}]},{"name":"Basic and Applied Basic Research Project of Guangzhou Municiple Science and Technology Bureau","award":["2021A1515220070"],"award-info":[{"award-number":["2021A1515220070"]}]},{"name":"Key Program for Dongguan Science and Technology Foundation","award":["61772375"],"award-info":[{"award-number":["61772375"]}]},{"name":"Key Program for Dongguan Science and Technology Foundation","award":["61936013"],"award-info":[{"award-number":["61936013"]}]},{"name":"Key Program for Dongguan Science and Technology Foundation","award":["71921002"],"award-info":[{"award-number":["71921002"]}]},{"name":"Key Program for Dongguan Science and Technology Foundation","award":["202201010824"],"award-info":[{"award-number":["202201010824"]}]},{"name":"Key Program for Dongguan Science and Technology Foundation","award":["20221800905042"],"award-info":[{"award-number":["20221800905042"]}]},{"name":"Key Program for Dongguan Science and Technology Foundation","award":["2021A1515220070"],"award-info":[{"award-number":["2021A1515220070"]}]},{"name":"GuangDong Basic and Applied Basic Research Foundation","award":["61772375"],"award-info":[{"award-number":["61772375"]}]},{"name":"GuangDong Basic and Applied Basic Research Foundation","award":["61936013"],"award-info":[{"award-number":["61936013"]}]},{"name":"GuangDong Basic and Applied Basic Research Foundation","award":["71921002"],"award-info":[{"award-number":["71921002"]}]},{"name":"GuangDong Basic and Applied Basic Research Foundation","award":["202201010824"],"award-info":[{"award-number":["202201010824"]}]},{"name":"GuangDong Basic and Applied Basic Research Foundation","award":["20221800905042"],"award-info":[{"award-number":["20221800905042"]}]},{"name":"GuangDong Basic and Applied Basic Research Foundation","award":["2021A1515220070"],"award-info":[{"award-number":["2021A1515220070"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>With the advancement of medicine, more and more researchers have turned their attention to the study of fetal genetic diseases in recent years. However, it is still a challenge to detect genetic diseases in the fetus, especially in an area lacking access to healthcare. The existing research primarily focuses on using teenagers\u2019 or adults\u2019 face information to screen for genetic diseases, but there are no relevant directions on disease detection using fetal facial information. To fill the vacancy, we designed a two-stage ensemble learning model based on sonography, Fgds-EL, to identify genetic diseases with 932 images. Concretely speaking, we use aggregated information of facial regions to detect anomalies, such as the jaw, frontal bone, and nasal bone areas. Our experiments show that our model yields a sensitivity of 0.92 and a specificity of 0.97 in the test set, on par with the senior sonographer, and outperforming other popular deep learning algorithms. Moreover, our model has the potential to be an effective noninvasive screening tool for the early screening of genetic diseases in the fetus.<\/jats:p>","DOI":"10.3390\/ijerph20032377","type":"journal-article","created":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T03:56:27Z","timestamp":1675050987000},"page":"2377","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["The Two-Stage Ensemble Learning Model Based on Aggregated Facial Features in Screening for Fetal Genetic Diseases"],"prefix":"10.3390","volume":"20","author":[{"given":"Jiajie","family":"Tang","sequence":"first","affiliation":[{"name":"School of Information Management, Wuhan University, Wuhan 430072, China"},{"name":"Institute of Pediatrics, Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510180, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6005-1905","authenticated-orcid":false,"given":"Jin","family":"Han","sequence":"additional","affiliation":[{"name":"Institute of Pediatrics, Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510180, China"},{"name":"Graduate School, Guangzhou Medical University, Guangzhou 511436, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bingbing","family":"Xie","sequence":"additional","affiliation":[{"name":"School of Information Management, Wuhan University, Wuhan 430072, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7925-1827","authenticated-orcid":false,"given":"Jiaxin","family":"Xue","sequence":"additional","affiliation":[{"name":"Institute of Pediatrics, Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510180, China"},{"name":"Graduate School, Guangzhou Medical University, Guangzhou 511436, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1233-5065","authenticated-orcid":false,"given":"Hang","family":"Zhou","sequence":"additional","affiliation":[{"name":"Institute of Pediatrics, Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510180, China"},{"name":"Graduate School, Guangzhou Medical University, Guangzhou 511436, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuxuan","family":"Jiang","sequence":"additional","affiliation":[{"name":"Institute of Pediatrics, Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510180, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4573-3809","authenticated-orcid":false,"given":"Lianting","family":"Hu","sequence":"additional","affiliation":[{"name":"Medical Big Data Center, Guangdong Provincial People\u2019s Hospital, Guangzhou 510080, China"},{"name":"Guangdong Cardiovascular Institute, Guangdong Provincial People\u2019s Hospital, Guangzhou 510080, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caiyuan","family":"Chen","sequence":"additional","affiliation":[{"name":"Institute of Pediatrics, Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510180, China"},{"name":"Graduate School, Guangzhou Medical University, Guangzhou 511436, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanghui","family":"Zhang","sequence":"additional","affiliation":[{"name":"School of Information Management, Wuhan University, Wuhan 430072, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fanfan","family":"Zhu","sequence":"additional","affiliation":[{"name":"School of Information Management, Wuhan University, Wuhan 430072, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Long","family":"Lu","sequence":"additional","affiliation":[{"name":"School of Information Management, Wuhan University, Wuhan 430072, China"},{"name":"Institute of Pediatrics, Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510180, China"},{"name":"Center for Healthcare Big Data Research, The Big Data Institute, Wuhan University, Wuhan 430072, China"},{"name":"School of Public Health, Wuhan University, Wuhan 430072, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,29]]},"reference":[{"key":"ref_1","first-page":"677","article-title":"Genetic disorders in children and young adults: A population study","volume":"42","author":"Baird","year":"1988","journal-title":"Am. 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