{"title":"胎儿结构和遗传异常筛查。我们在NIPT的年龄做的对吗?","authors":"D. Senadheera, I. A. Jayawardane, D. Jayasundara","doi":"10.4038/sljog.v43i3.7958","DOIUrl":null,"url":null,"abstract":"https://orcid.org/0000-0003-1803-4172 Key content • History and Evolution of screening for trisomy 21 and other aneuploidies. • Genetic, Structural, and biochemical screening. • First trimester combined test. detection rate of 90% at an FPR of 5%. • Second trimester serum biochemistrydetection rate of 60-75% at an FPR of 5%. • NIPT as a test – detection rate 99% with a reduction in FPR to 0.1%. • NIPT-how best to incorporate in to screening protocols. • Growth and placental disordersPlGF and sFlt-1 Food for thought • First trimester USS at 10 weeks. • NTshould we be investing on it any further, or is it getting obsolete? • NIPTcan it be universal? • NIPTHow best to introduce? • Place of genetic screening with NT and USS in the age of NIPT? • NIPTis it state funded Eugenics? • Genetic vs Structural screening-together or should it be separate? • Early dating scan followed by NIPT • Can we scan early-for structural anomalies? • Parental choice in a setting with limited options. • Best way of screening?","PeriodicalId":186118,"journal":{"name":"Sri Lanka Journal of Obstetrics and Gynaecology","volume":"17 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2021-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Fetal structural and genetic anomaly screening. Are we doing it correct at the age of NIPT?\",\"authors\":\"D. Senadheera, I. A. Jayawardane, D. Jayasundara\",\"doi\":\"10.4038/sljog.v43i3.7958\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"https://orcid.org/0000-0003-1803-4172 Key content • History and Evolution of screening for trisomy 21 and other aneuploidies. • Genetic, Structural, and biochemical screening. • First trimester combined test. detection rate of 90% at an FPR of 5%. • Second trimester serum biochemistrydetection rate of 60-75% at an FPR of 5%. • NIPT as a test – detection rate 99% with a reduction in FPR to 0.1%. • NIPT-how best to incorporate in to screening protocols. • Growth and placental disordersPlGF and sFlt-1 Food for thought • First trimester USS at 10 weeks. • NTshould we be investing on it any further, or is it getting obsolete? • NIPTcan it be universal? • NIPTHow best to introduce? • Place of genetic screening with NT and USS in the age of NIPT? • NIPTis it state funded Eugenics? • Genetic vs Structural screening-together or should it be separate? • Early dating scan followed by NIPT • Can we scan early-for structural anomalies? • Parental choice in a setting with limited options. • Best way of screening?\",\"PeriodicalId\":186118,\"journal\":{\"name\":\"Sri Lanka Journal of Obstetrics and Gynaecology\",\"volume\":\"17 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-11-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Sri Lanka Journal of Obstetrics and Gynaecology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4038/sljog.v43i3.7958\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Sri Lanka Journal of Obstetrics and Gynaecology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4038/sljog.v43i3.7958","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Fetal structural and genetic anomaly screening. Are we doing it correct at the age of NIPT?
https://orcid.org/0000-0003-1803-4172 Key content • History and Evolution of screening for trisomy 21 and other aneuploidies. • Genetic, Structural, and biochemical screening. • First trimester combined test. detection rate of 90% at an FPR of 5%. • Second trimester serum biochemistrydetection rate of 60-75% at an FPR of 5%. • NIPT as a test – detection rate 99% with a reduction in FPR to 0.1%. • NIPT-how best to incorporate in to screening protocols. • Growth and placental disordersPlGF and sFlt-1 Food for thought • First trimester USS at 10 weeks. • NTshould we be investing on it any further, or is it getting obsolete? • NIPTcan it be universal? • NIPTHow best to introduce? • Place of genetic screening with NT and USS in the age of NIPT? • NIPTis it state funded Eugenics? • Genetic vs Structural screening-together or should it be separate? • Early dating scan followed by NIPT • Can we scan early-for structural anomalies? • Parental choice in a setting with limited options. • Best way of screening?
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
