{"title":"新生儿先天性肾上腺增生筛检:液相色谱串联质谱作为二次测试的效用。","authors":"Toshihiro Tajima","doi":"10.1297/cpe.2024-0069","DOIUrl":null,"url":null,"abstract":"<p><p>In Japan, newborn screening (NBS) for congenital adrenal hyperplasia (CAH) began in 1989. NBS is useful for early diagnosis and preventing gender misidentification, however, it has a higher false positive rate for CAH compared to other diseases detected by neonatal screening. Recently, it has become clear that using liquid chromatography with tandem mass spectrometry (LC-MS/MS) for second-tier testing reduces false positive rates and repeat blood sampling. LC-MS/MS commonly measures cortisol (F), androstenedione (A4), 11-deoxycortsiol (11DOF), 21-deoxycortisol (21DOF), and 17-hydroxyprogesterone (17OHP) levels. The ratios for (21DOF+17OHP)/F and (17OHP+A4)/F have been used to establish cut-off values for the second-tier test. In Japan, the recall rate is reduced using the 11DOF/17OHP ratio as well as the ratios for (21DOF+17OHP)/F and (17OHP+A4)/F for the second-tier test. Currently, second-tier testing using LC-MS/MS for CAH neonatal screening is unfeasible in all regions of Japan due to equipment costs, however, it will hopefully be available nationwide in the future.</p>","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"34 1","pages":"13-18"},"PeriodicalIF":1.2000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11701021/pdf/","citationCount":"0","resultStr":"{\"title\":\"Newborn screening for congenital adrenal hyperplasia: Utility of liquid chromatography with tandem mass spectrometry as a secondary test.\",\"authors\":\"Toshihiro Tajima\",\"doi\":\"10.1297/cpe.2024-0069\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>In Japan, newborn screening (NBS) for congenital adrenal hyperplasia (CAH) began in 1989. NBS is useful for early diagnosis and preventing gender misidentification, however, it has a higher false positive rate for CAH compared to other diseases detected by neonatal screening. Recently, it has become clear that using liquid chromatography with tandem mass spectrometry (LC-MS/MS) for second-tier testing reduces false positive rates and repeat blood sampling. LC-MS/MS commonly measures cortisol (F), androstenedione (A4), 11-deoxycortsiol (11DOF), 21-deoxycortisol (21DOF), and 17-hydroxyprogesterone (17OHP) levels. The ratios for (21DOF+17OHP)/F and (17OHP+A4)/F have been used to establish cut-off values for the second-tier test. In Japan, the recall rate is reduced using the 11DOF/17OHP ratio as well as the ratios for (21DOF+17OHP)/F and (17OHP+A4)/F for the second-tier test. Currently, second-tier testing using LC-MS/MS for CAH neonatal screening is unfeasible in all regions of Japan due to equipment costs, however, it will hopefully be available nationwide in the future.</p>\",\"PeriodicalId\":10678,\"journal\":{\"name\":\"Clinical Pediatric Endocrinology\",\"volume\":\"34 1\",\"pages\":\"13-18\"},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2025-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11701021/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Pediatric Endocrinology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1297/cpe.2024-0069\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/11/25 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Pediatric Endocrinology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1297/cpe.2024-0069","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/25 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Newborn screening for congenital adrenal hyperplasia: Utility of liquid chromatography with tandem mass spectrometry as a secondary test.
In Japan, newborn screening (NBS) for congenital adrenal hyperplasia (CAH) began in 1989. NBS is useful for early diagnosis and preventing gender misidentification, however, it has a higher false positive rate for CAH compared to other diseases detected by neonatal screening. Recently, it has become clear that using liquid chromatography with tandem mass spectrometry (LC-MS/MS) for second-tier testing reduces false positive rates and repeat blood sampling. LC-MS/MS commonly measures cortisol (F), androstenedione (A4), 11-deoxycortsiol (11DOF), 21-deoxycortisol (21DOF), and 17-hydroxyprogesterone (17OHP) levels. The ratios for (21DOF+17OHP)/F and (17OHP+A4)/F have been used to establish cut-off values for the second-tier test. In Japan, the recall rate is reduced using the 11DOF/17OHP ratio as well as the ratios for (21DOF+17OHP)/F and (17OHP+A4)/F for the second-tier test. Currently, second-tier testing using LC-MS/MS for CAH neonatal screening is unfeasible in all regions of Japan due to equipment costs, however, it will hopefully be available nationwide in the future.