Angela Devanboo, Dhriti Chendil Nathan, Shweta Mahalingam, Vishal Prabhu, Hema Purandarey, E. Venkataswamy, V. Ramprasad, P. Kadam
{"title":"基于单核苷酸多态性的无创产前检测22q11.2缺失综合征","authors":"Angela Devanboo, Dhriti Chendil Nathan, Shweta Mahalingam, Vishal Prabhu, Hema Purandarey, E. Venkataswamy, V. Ramprasad, P. Kadam","doi":"10.18231/j.ijogr.2023.073","DOIUrl":null,"url":null,"abstract":"Non-invasive prenatal test (NIPT) has become a popular screening test worldwide for screening common trisomies. In addition, the test can also sex chromosomal aneuploidies (SCAs) with similar sensitivity. In recent years, the scope of NIPT has extended to screen pregnancies for clinically significant microdeletions (MDs), rare autosomal aneuploidies, and subchromosomal abnormalities. The clinical utility of NIPT screening beyond trisomies 21,18,13 and SCAs are still being evaluated because of low positive predictive value which in turn leads to an increase in invasive procedures. Here, we present a case where SNP - NIPT correctly identified a microdeletion syndrome, i.e., 22q11.2DS in a pregnant woman with normal ultrasound findings. This NIPT finding was further confirmed in the chromosomal microarray study and FISH.","PeriodicalId":13288,"journal":{"name":"Indian Journal of Obstetrics and Gynecology Research","volume":"69 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Detection of 22q11.2 deletion syndrome by single-nucleotide polymorphism based non-invasive prenatal test\",\"authors\":\"Angela Devanboo, Dhriti Chendil Nathan, Shweta Mahalingam, Vishal Prabhu, Hema Purandarey, E. Venkataswamy, V. Ramprasad, P. Kadam\",\"doi\":\"10.18231/j.ijogr.2023.073\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Non-invasive prenatal test (NIPT) has become a popular screening test worldwide for screening common trisomies. In addition, the test can also sex chromosomal aneuploidies (SCAs) with similar sensitivity. In recent years, the scope of NIPT has extended to screen pregnancies for clinically significant microdeletions (MDs), rare autosomal aneuploidies, and subchromosomal abnormalities. The clinical utility of NIPT screening beyond trisomies 21,18,13 and SCAs are still being evaluated because of low positive predictive value which in turn leads to an increase in invasive procedures. Here, we present a case where SNP - NIPT correctly identified a microdeletion syndrome, i.e., 22q11.2DS in a pregnant woman with normal ultrasound findings. This NIPT finding was further confirmed in the chromosomal microarray study and FISH.\",\"PeriodicalId\":13288,\"journal\":{\"name\":\"Indian Journal of Obstetrics and Gynecology Research\",\"volume\":\"69 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-08-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Indian Journal of Obstetrics and Gynecology Research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.18231/j.ijogr.2023.073\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian Journal of Obstetrics and Gynecology Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.18231/j.ijogr.2023.073","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Detection of 22q11.2 deletion syndrome by single-nucleotide polymorphism based non-invasive prenatal test
Non-invasive prenatal test (NIPT) has become a popular screening test worldwide for screening common trisomies. In addition, the test can also sex chromosomal aneuploidies (SCAs) with similar sensitivity. In recent years, the scope of NIPT has extended to screen pregnancies for clinically significant microdeletions (MDs), rare autosomal aneuploidies, and subchromosomal abnormalities. The clinical utility of NIPT screening beyond trisomies 21,18,13 and SCAs are still being evaluated because of low positive predictive value which in turn leads to an increase in invasive procedures. Here, we present a case where SNP - NIPT correctly identified a microdeletion syndrome, i.e., 22q11.2DS in a pregnant woman with normal ultrasound findings. This NIPT finding was further confirmed in the chromosomal microarray study and FISH.