Joshua Fernandez De La Vega, Arian Pourmehdi Lahiji, Caitlin Raymond, Song Han, Harshwardhan Thaker, Jianli Dong
{"title":"首例报告的 10 和 20 双三体受孕病例。","authors":"Joshua Fernandez De La Vega, Arian Pourmehdi Lahiji, Caitlin Raymond, Song Han, Harshwardhan Thaker, Jianli Dong","doi":"10.1093/labmed/lmad052","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Double trisomies are rare findings among products of conception and are often lethal to the developing embryo or fetus.</p><p><strong>Methods: </strong>Here we describe a double trisomy case with symptoms of threatened miscarriage at 9 weeks gestation. Ultrasound revealed an anembryonic pregnancy. Pregnancy was terminated by dilation and curettage at gestational age 11 weeks and 6 days. Histologic examination and chromosome microarray were performed on a formalin-fixed product of conception (POC) sample to identify the cause of the anembryonic pregnancy.</p><p><strong>Results: </strong>Chromosome microarray analysis revealed a female chromosome complement with double trisomies 10 and 20, arr(10,20)x3, consistent with a karyotype of 48,XX,+10,+20.</p><p><strong>Conclusion: </strong>To the best of our knowledge, this is the first reported case of double trisomy 10 and 20 in a POC. Due to nonspecific histopathological findings, chromosomal microarray is a powerful tool in identifying and differentiating chromosomal aneuploidies.</p>","PeriodicalId":17951,"journal":{"name":"Laboratory medicine","volume":" ","pages":"245-248"},"PeriodicalIF":0.0000,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The first reported case of double trisomy 10 and 20 in a product of conception.\",\"authors\":\"Joshua Fernandez De La Vega, Arian Pourmehdi Lahiji, Caitlin Raymond, Song Han, Harshwardhan Thaker, Jianli Dong\",\"doi\":\"10.1093/labmed/lmad052\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Double trisomies are rare findings among products of conception and are often lethal to the developing embryo or fetus.</p><p><strong>Methods: </strong>Here we describe a double trisomy case with symptoms of threatened miscarriage at 9 weeks gestation. Ultrasound revealed an anembryonic pregnancy. Pregnancy was terminated by dilation and curettage at gestational age 11 weeks and 6 days. Histologic examination and chromosome microarray were performed on a formalin-fixed product of conception (POC) sample to identify the cause of the anembryonic pregnancy.</p><p><strong>Results: </strong>Chromosome microarray analysis revealed a female chromosome complement with double trisomies 10 and 20, arr(10,20)x3, consistent with a karyotype of 48,XX,+10,+20.</p><p><strong>Conclusion: </strong>To the best of our knowledge, this is the first reported case of double trisomy 10 and 20 in a POC. Due to nonspecific histopathological findings, chromosomal microarray is a powerful tool in identifying and differentiating chromosomal aneuploidies.</p>\",\"PeriodicalId\":17951,\"journal\":{\"name\":\"Laboratory medicine\",\"volume\":\" \",\"pages\":\"245-248\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-03-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Laboratory medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1093/labmed/lmad052\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Laboratory medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/labmed/lmad052","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
The first reported case of double trisomy 10 and 20 in a product of conception.
Background: Double trisomies are rare findings among products of conception and are often lethal to the developing embryo or fetus.
Methods: Here we describe a double trisomy case with symptoms of threatened miscarriage at 9 weeks gestation. Ultrasound revealed an anembryonic pregnancy. Pregnancy was terminated by dilation and curettage at gestational age 11 weeks and 6 days. Histologic examination and chromosome microarray were performed on a formalin-fixed product of conception (POC) sample to identify the cause of the anembryonic pregnancy.
Results: Chromosome microarray analysis revealed a female chromosome complement with double trisomies 10 and 20, arr(10,20)x3, consistent with a karyotype of 48,XX,+10,+20.
Conclusion: To the best of our knowledge, this is the first reported case of double trisomy 10 and 20 in a POC. Due to nonspecific histopathological findings, chromosomal microarray is a powerful tool in identifying and differentiating chromosomal aneuploidies.