{"title":"根据超声波检查结果产前检测出马赛克 14 三体综合征","authors":"Lauren Conley","doi":"10.1177/87564793241240777","DOIUrl":null,"url":null,"abstract":"Mosaic trisomy 14 or partial trisomy 14 is a rare genetic abnormality that occurs when only a portion of cells have an additional copy of chromosome 14. It has a female prevalence of 3:1 and is associated with a wide range of related disorders. In this case, severe polyhydramnios because of borderline micrognathia was correlated to the diagnosis of mosaic trisomy 14. Early sonographic detection of associated findings can prompt the genetic testing required for diagnosis. Combining sonography and genetic testing leads to an accurate diagnosis, proper management, and postnatal planning for the patient.","PeriodicalId":45758,"journal":{"name":"JOURNAL OF DIAGNOSTIC MEDICAL SONOGRAPHY","volume":null,"pages":null},"PeriodicalIF":0.3000,"publicationDate":"2024-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Prenatal Detection of Mosaic Trisomy 14 Secondary to Sonographic Findings\",\"authors\":\"Lauren Conley\",\"doi\":\"10.1177/87564793241240777\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Mosaic trisomy 14 or partial trisomy 14 is a rare genetic abnormality that occurs when only a portion of cells have an additional copy of chromosome 14. It has a female prevalence of 3:1 and is associated with a wide range of related disorders. In this case, severe polyhydramnios because of borderline micrognathia was correlated to the diagnosis of mosaic trisomy 14. Early sonographic detection of associated findings can prompt the genetic testing required for diagnosis. Combining sonography and genetic testing leads to an accurate diagnosis, proper management, and postnatal planning for the patient.\",\"PeriodicalId\":45758,\"journal\":{\"name\":\"JOURNAL OF DIAGNOSTIC MEDICAL SONOGRAPHY\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.3000,\"publicationDate\":\"2024-03-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JOURNAL OF DIAGNOSTIC MEDICAL SONOGRAPHY\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/87564793241240777\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JOURNAL OF DIAGNOSTIC MEDICAL SONOGRAPHY","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/87564793241240777","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING","Score":null,"Total":0}
Prenatal Detection of Mosaic Trisomy 14 Secondary to Sonographic Findings
Mosaic trisomy 14 or partial trisomy 14 is a rare genetic abnormality that occurs when only a portion of cells have an additional copy of chromosome 14. It has a female prevalence of 3:1 and is associated with a wide range of related disorders. In this case, severe polyhydramnios because of borderline micrognathia was correlated to the diagnosis of mosaic trisomy 14. Early sonographic detection of associated findings can prompt the genetic testing required for diagnosis. Combining sonography and genetic testing leads to an accurate diagnosis, proper management, and postnatal planning for the patient.
期刊介绍:
The Journal of Diagnostic Medical Sonography (JDMS) is the official journal of the Society of Diagnostic Medical Sonography and publishes peer-reviewed manuscripts aimed at the translational use of ultrasound for diagnosis, intervention, and other clinical applications. The JDMS provides research, clinical, and educational content for all specialties including but not limited to abdominal, women’s health, pediatric, cardiovascular, and musculoskeletal sonography. The journal’s scope may also include research on instrumentation, physics, ergonomics, technical advancements, education, and professional issues in the field of sonography. Types of submissions accepted by the JDMS are Original Research, Literature Review, Case Studies, Symposia (related to education, policy, technology, or professional issues), and Letters to the Editor.