{"title":"在产前样本中使用 FISH 检测 X 单体马赛克:高风险后 NIPT","authors":"Shiva Murarka, Debaashish Biswas, Samarth Bhatt, Krishna Mistry, U. Kotecha, Parth Shah, Sheetal Sharda","doi":"10.1055/s-0044-1787015","DOIUrl":null,"url":null,"abstract":"Noninvasive prenatal testing (NIPT) is a highly specific and sensitive aneuploidy screening method with low false positive results. Sex chromosome aneuploidy (SCA) is not picked up in prenatal ultrasounds, as they may not have antenatally identifiable features, except for hydrops in monosomy X cases. Women with high risk NIPT results for SCAs are recommended to go for invasive prenatal diagnosis for confirmation by diagnostic tests like chromosome microarray, karyotyping, and/or fluorescence in situ hybridization (FISH). We present two cases that showed a high risk for monosomy X on NIPT. Chromosomal microarray was negative for SCA. Further, FISH was done to confirm the results and confirm the presence of low level mosaicism for monosomy X. FISH proves to be the test of choice to detect low level mosaicism in high risk NIPT cases with high positive predictive values.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1000,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Detecting Mosaicism of Monosomy X Using FISH in Prenatal Samples: Post High Risk NIPT\",\"authors\":\"Shiva Murarka, Debaashish Biswas, Samarth Bhatt, Krishna Mistry, U. Kotecha, Parth Shah, Sheetal Sharda\",\"doi\":\"10.1055/s-0044-1787015\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Noninvasive prenatal testing (NIPT) is a highly specific and sensitive aneuploidy screening method with low false positive results. Sex chromosome aneuploidy (SCA) is not picked up in prenatal ultrasounds, as they may not have antenatally identifiable features, except for hydrops in monosomy X cases. Women with high risk NIPT results for SCAs are recommended to go for invasive prenatal diagnosis for confirmation by diagnostic tests like chromosome microarray, karyotyping, and/or fluorescence in situ hybridization (FISH). We present two cases that showed a high risk for monosomy X on NIPT. Chromosomal microarray was negative for SCA. Further, FISH was done to confirm the results and confirm the presence of low level mosaicism for monosomy X. FISH proves to be the test of choice to detect low level mosaicism in high risk NIPT cases with high positive predictive values.\",\"PeriodicalId\":42412,\"journal\":{\"name\":\"Journal of Fetal Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.1000,\"publicationDate\":\"2024-06-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Fetal Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0044-1787015\",\"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":"Journal of Fetal Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0044-1787015","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
无创产前检测(NIPT)是一种高度特异性和敏感性的非整倍体筛查方法,其假阳性结果很低。性染色体非整倍体(SCA)不会在产前超声波检查中被发现,因为它们可能没有产前可识别的特征,但 X 单体症的水肿除外。建议 NIPT 结果为高风险 SCA 的妇女进行侵入性产前诊断,通过染色体微阵列、核型和/或荧光原位杂交(FISH)等诊断测试进行确认。我们介绍了两例在 NIPT 中显示为高风险 X 单体的病例。染色体微阵列检测结果显示SCA阴性。事实证明,FISH 是检测高风险 NIPT 病例低水平嵌合的首选检测方法,具有很高的阳性预测值。
Detecting Mosaicism of Monosomy X Using FISH in Prenatal Samples: Post High Risk NIPT
Noninvasive prenatal testing (NIPT) is a highly specific and sensitive aneuploidy screening method with low false positive results. Sex chromosome aneuploidy (SCA) is not picked up in prenatal ultrasounds, as they may not have antenatally identifiable features, except for hydrops in monosomy X cases. Women with high risk NIPT results for SCAs are recommended to go for invasive prenatal diagnosis for confirmation by diagnostic tests like chromosome microarray, karyotyping, and/or fluorescence in situ hybridization (FISH). We present two cases that showed a high risk for monosomy X on NIPT. Chromosomal microarray was negative for SCA. Further, FISH was done to confirm the results and confirm the presence of low level mosaicism for monosomy X. FISH proves to be the test of choice to detect low level mosaicism in high risk NIPT cases with high positive predictive values.
期刊介绍:
Journal of Fetal Medicine is the official journal of the Society of Fetal Medicine affiliated with International Society of Ultrasound in Obstetrics & Gynecology. This is a peer-reviewed international journal featuring articles with special interest to fetal medicine specialists, geneticists and ulstrasonologists. The aim of the journal is to communicate the results of original research in the field of fetal medicine. It includes a variety of articles suitable for clinicians and scientific specialists concerned with diagnosis and therapy of fetal disorders. All articles on health promotion of the fetus are acceptable for publication. The major focus is on highlighting the work that has been carried out in India and other developing countries. It also includes articles written by experts from the West. Types of articles published: - Original research articles related to fetal care and basic research - Review articles - Consensus guidelines for diagnosis and treatment - Case reports - Images in Fetal Medicine - Brief communications