Lajos Gergely, Miroslav Korbeľ, Ľudovít Danihel, Vanda Repiská, Miroslav Tomka, Liam McCullough, Petra Priščáková
{"title":"模仿水滴形痣的 16 三体综合征。","authors":"Lajos Gergely, Miroslav Korbeľ, Ľudovít Danihel, Vanda Repiská, Miroslav Tomka, Liam McCullough, Petra Priščáková","doi":"10.48095/cccg2024396","DOIUrl":null,"url":null,"abstract":"<p><p>The authors present a case of 1st trimester miscarriage where an early, complete hydatidiform mole was clinically suspected. Histopathological and immunohistochemical analyses excluded a complete mole, but the histomorphological profile was in concordance with a partial hydatidiform mole. Genetic analysis excluded a partial mole based on biparental genome composition, where further genetic analyses detected trisomy of chromosome 16. Trisomy of chromosome 16 is a frequent cause of 1st trimester abortions and may lead to highly abnormal placental histomorphology mimicking a partial mole. Genetic analyses are crucial for proper differential diagnosis and for the determination of adequate follow-up and prognosis for further pregnancies.</p>","PeriodicalId":43333,"journal":{"name":"Ceska Gynekologie-Czech Gynaecology","volume":"89 5","pages":"396-399"},"PeriodicalIF":0.5000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Trisomy 16 mimicking hydatidiform mole.\",\"authors\":\"Lajos Gergely, Miroslav Korbeľ, Ľudovít Danihel, Vanda Repiská, Miroslav Tomka, Liam McCullough, Petra Priščáková\",\"doi\":\"10.48095/cccg2024396\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The authors present a case of 1st trimester miscarriage where an early, complete hydatidiform mole was clinically suspected. Histopathological and immunohistochemical analyses excluded a complete mole, but the histomorphological profile was in concordance with a partial hydatidiform mole. Genetic analysis excluded a partial mole based on biparental genome composition, where further genetic analyses detected trisomy of chromosome 16. Trisomy of chromosome 16 is a frequent cause of 1st trimester abortions and may lead to highly abnormal placental histomorphology mimicking a partial mole. Genetic analyses are crucial for proper differential diagnosis and for the determination of adequate follow-up and prognosis for further pregnancies.</p>\",\"PeriodicalId\":43333,\"journal\":{\"name\":\"Ceska Gynekologie-Czech Gynaecology\",\"volume\":\"89 5\",\"pages\":\"396-399\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Ceska Gynekologie-Czech Gynaecology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.48095/cccg2024396\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ceska Gynekologie-Czech Gynaecology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.48095/cccg2024396","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
The authors present a case of 1st trimester miscarriage where an early, complete hydatidiform mole was clinically suspected. Histopathological and immunohistochemical analyses excluded a complete mole, but the histomorphological profile was in concordance with a partial hydatidiform mole. Genetic analysis excluded a partial mole based on biparental genome composition, where further genetic analyses detected trisomy of chromosome 16. Trisomy of chromosome 16 is a frequent cause of 1st trimester abortions and may lead to highly abnormal placental histomorphology mimicking a partial mole. Genetic analyses are crucial for proper differential diagnosis and for the determination of adequate follow-up and prognosis for further pregnancies.