Letizia Di Meglio, Laura Letizia Mazzarelli, Amedeo Boscaino, Dino Cancemi, Franco Morelli, Maria Concetta Lonardo, Valeria Lonardo, Patrizia Friso, Carmine Spampanato, Maria Urciuoli, Marialuisa Ventruto, Valerio Ventruto
{"title":"患有梅克尔综合征的胎儿和患有女性假两性畸形的胎儿的先天性巨喉症。这些事件的第一份报告。","authors":"Letizia Di Meglio, Laura Letizia Mazzarelli, Amedeo Boscaino, Dino Cancemi, Franco Morelli, Maria Concetta Lonardo, Valeria Lonardo, Patrizia Friso, Carmine Spampanato, Maria Urciuoli, Marialuisa Ventruto, Valerio Ventruto","doi":"","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>the purpose of this paper is to report the first case of megaurethra in a fetus with Meckel syndrome and in a fetus with femal pseudoermaphroditism.</p><p><strong>Results: </strong>the former case refers to a fetus of 13 weeks gestation with the three following prominent anomalies, observed by transonic scan and confirmed by autopsy: congenital megaurethra, anal atresia, single umbelical artery. The latter case refers to a fetus of 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen. The karyotype was 46,XX with normal molecular karytype. The megaurethra was discovered by sonography at 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen. The karyotype was 46,XX with normal molecular karyotype (Array-CGH, 1 Mb of resolution).</p><p><strong>Methods: </strong>transonic scan, autopsy, karyotype, array-CGH.</p><p><strong>Conclusions: </strong>the first prenatal cases of two genetic syndromes with megaurethra have been reported, concening respectively a fetus with Meckel syndrome and a fetus with femal pseudoermaphroditism. The latter was confirmed by both autopsy and the normal female 46,XX karyotype.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"8 3-4","pages":"42-6"},"PeriodicalIF":0.0000,"publicationDate":"2014-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510562/pdf/42-46.pdf","citationCount":"0","resultStr":"{\"title\":\"Congenital megaurethra in a fetus with Meckel syndrome and in a fetus with female pseudoermanphroditism. The first report of these occurrences.\",\"authors\":\"Letizia Di Meglio, Laura Letizia Mazzarelli, Amedeo Boscaino, Dino Cancemi, Franco Morelli, Maria Concetta Lonardo, Valeria Lonardo, Patrizia Friso, Carmine Spampanato, Maria Urciuoli, Marialuisa Ventruto, Valerio Ventruto\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>the purpose of this paper is to report the first case of megaurethra in a fetus with Meckel syndrome and in a fetus with femal pseudoermaphroditism.</p><p><strong>Results: </strong>the former case refers to a fetus of 13 weeks gestation with the three following prominent anomalies, observed by transonic scan and confirmed by autopsy: congenital megaurethra, anal atresia, single umbelical artery. The latter case refers to a fetus of 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen. The karyotype was 46,XX with normal molecular karytype. The megaurethra was discovered by sonography at 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen. The karyotype was 46,XX with normal molecular karyotype (Array-CGH, 1 Mb of resolution).</p><p><strong>Methods: </strong>transonic scan, autopsy, karyotype, array-CGH.</p><p><strong>Conclusions: </strong>the first prenatal cases of two genetic syndromes with megaurethra have been reported, concening respectively a fetus with Meckel syndrome and a fetus with femal pseudoermaphroditism. The latter was confirmed by both autopsy and the normal female 46,XX karyotype.</p>\",\"PeriodicalId\":89592,\"journal\":{\"name\":\"Journal of prenatal medicine\",\"volume\":\"8 3-4\",\"pages\":\"42-6\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2014-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510562/pdf/42-46.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of prenatal medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"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":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Congenital megaurethra in a fetus with Meckel syndrome and in a fetus with female pseudoermanphroditism. The first report of these occurrences.
Objective: the purpose of this paper is to report the first case of megaurethra in a fetus with Meckel syndrome and in a fetus with femal pseudoermaphroditism.
Results: the former case refers to a fetus of 13 weeks gestation with the three following prominent anomalies, observed by transonic scan and confirmed by autopsy: congenital megaurethra, anal atresia, single umbelical artery. The latter case refers to a fetus of 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen. The karyotype was 46,XX with normal molecular karytype. The megaurethra was discovered by sonography at 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen. The karyotype was 46,XX with normal molecular karyotype (Array-CGH, 1 Mb of resolution).
Conclusions: the first prenatal cases of two genetic syndromes with megaurethra have been reported, concening respectively a fetus with Meckel syndrome and a fetus with femal pseudoermaphroditism. The latter was confirmed by both autopsy and the normal female 46,XX karyotype.
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