Filippo Di Meglio, C. Vascone, Letizia Di Meglio, L. Turco, S. Vitale, P. Cignini, G. Valenti, F. Gulino, A. Rapisarda, S. Cianci
{"title":"先天性原发性无晶状体的超声产前诊断1例。","authors":"Filippo Di Meglio, C. Vascone, Letizia Di Meglio, L. Turco, S. Vitale, P. Cignini, G. Valenti, F. Gulino, A. Rapisarda, S. Cianci","doi":"10.11138/jpm/2015.9.1.016","DOIUrl":null,"url":null,"abstract":"INTRODUCTION the ultrasound prenatal diagnosis of aphakia is a difficult diagnosis and often requires a genetic study of the karyotype. CASE REPORT we present a rare case of prenatal bilateral aphakia, confirmed after bird. The patient was observed by ultrasound during the 23rd week of pregnancy. Through transabdominal ultrasound the lens could not be visualized bilaterally. The remaining anathomy, explorable by ultrasound, was still regular. When aphakia is suspected, genetic counseling is essential. CONCLUSION a differential diagnosis between aphakia and anophtalmia is necessary. A TORCH complex evaluation can be useful. Amniocentesis is always required.","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"35 1","pages":"16-7"},"PeriodicalIF":0.0000,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Ultrasound prenatal diagnosis of congenital primary aphakia: case report.\",\"authors\":\"Filippo Di Meglio, C. Vascone, Letizia Di Meglio, L. Turco, S. Vitale, P. Cignini, G. Valenti, F. Gulino, A. Rapisarda, S. Cianci\",\"doi\":\"10.11138/jpm/2015.9.1.016\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"INTRODUCTION the ultrasound prenatal diagnosis of aphakia is a difficult diagnosis and often requires a genetic study of the karyotype. CASE REPORT we present a rare case of prenatal bilateral aphakia, confirmed after bird. The patient was observed by ultrasound during the 23rd week of pregnancy. Through transabdominal ultrasound the lens could not be visualized bilaterally. The remaining anathomy, explorable by ultrasound, was still regular. When aphakia is suspected, genetic counseling is essential. CONCLUSION a differential diagnosis between aphakia and anophtalmia is necessary. A TORCH complex evaluation can be useful. Amniocentesis is always required.\",\"PeriodicalId\":89592,\"journal\":{\"name\":\"Journal of prenatal medicine\",\"volume\":\"35 1\",\"pages\":\"16-7\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2015-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of prenatal medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.11138/jpm/2015.9.1.016\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of prenatal medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.11138/jpm/2015.9.1.016","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Ultrasound prenatal diagnosis of congenital primary aphakia: case report.
INTRODUCTION the ultrasound prenatal diagnosis of aphakia is a difficult diagnosis and often requires a genetic study of the karyotype. CASE REPORT we present a rare case of prenatal bilateral aphakia, confirmed after bird. The patient was observed by ultrasound during the 23rd week of pregnancy. Through transabdominal ultrasound the lens could not be visualized bilaterally. The remaining anathomy, explorable by ultrasound, was still regular. When aphakia is suspected, genetic counseling is essential. CONCLUSION a differential diagnosis between aphakia and anophtalmia is necessary. A TORCH complex evaluation can be useful. Amniocentesis is always required.