Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: A retrospective and prospective evaluation
DC Field | Value | Language |
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dc.contributor.author | Seo, Ja Young | - |
dc.contributor.author | Park, Hyung-Doo | - |
dc.contributor.author | Kim, Jong Won | - |
dc.contributor.author | Oh, Hyeon Ju | - |
dc.contributor.author | Yang, Jeong Soo | - |
dc.contributor.author | Chang, Yun Sil | - |
dc.contributor.author | Park, Won Soon | - |
dc.contributor.author | Lee, Soo-Youn | - |
dc.date.available | 2020-02-28T18:44:08Z | - |
dc.date.created | 2020-02-06 | - |
dc.date.issued | 2014-01 | - |
dc.identifier.issn | 0300-5577 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/12948 | - |
dc.description.abstract | Background: Newborn screening for congenital adrenal hyperplasia (CAH) based on measuring 17-hydroxyprogesterone (17-OHP) by immunoassay generates a number of false-positive results, especially in preterm neonates. We applied steroid profiling by using liquid chromatographytandem mass spectrometry (LC-MS/MS) as a second-tier test in newborns with positive CAH screening and evaluated its clinical utility in a tertiary care hospital setting. Methods: By performing a 4-year retrospective data review, we were able to test 121 dried blood spots from newborns with positive CAH screening for 17-OHP, androstenedione and cortisol levels by LC-MS/MS. We prospectively evaluated the clinical utility of steroid profiling after the implementation of steroid profiling as a second-tier test in our routine clinical practice. During the 2-year prospective study period, 104 cases with positive initial screening by FIA were tested by LC-MS/MS. Clinical and laboratory follow-up were performed for at least 6 months. Results: The preterm neonates accounted for 50.7% (76/150) and 70.4% (88/125) of screening-positive cases in retrospective and prospective cohorts, respectively. By applying steroid profiling as a second-tier test for positive CAH screening, we eliminated all false-positive results and decreased the median follow-up time from 75 to 8 days. Conclusions: Our data showed that steroid profiling reduced the burden of follow-up exams by improving the positive predictive value of the CAH screening program. The use of steroid profiling as a second-tier test for positive CAH screening will improve clinical practice particularly in a tertiary care hospital setting where positive CAH screening from preterm neonates is frequently encountered. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | WALTER DE GRUYTER GMBH | - |
dc.relation.isPartOf | JOURNAL OF PERINATAL MEDICINE | - |
dc.subject | 17-HYDROXYPROGESTERONE LEVELS | - |
dc.subject | PRETERM INFANTS | - |
dc.title | Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: A retrospective and prospective evaluation | - |
dc.type | Article | - |
dc.type.rims | ART | - |
dc.description.journalClass | 1 | - |
dc.identifier.wosid | 000327765200015 | - |
dc.identifier.doi | 10.1515/jpm-2013-0154 | - |
dc.identifier.bibliographicCitation | JOURNAL OF PERINATAL MEDICINE, v.42, no.1, pp.121 - 127 | - |
dc.identifier.scopusid | 2-s2.0-84890483391 | - |
dc.citation.endPage | 127 | - |
dc.citation.startPage | 121 | - |
dc.citation.title | JOURNAL OF PERINATAL MEDICINE | - |
dc.citation.volume | 42 | - |
dc.citation.number | 1 | - |
dc.contributor.affiliatedAuthor | Seo, Ja Young | - |
dc.type.docType | Article | - |
dc.subject.keywordAuthor | Congenital adrenal hyperplasia | - |
dc.subject.keywordAuthor | LC-MS/MS | - |
dc.subject.keywordAuthor | preterm neonate | - |
dc.subject.keywordAuthor | second-tier test | - |
dc.subject.keywordAuthor | steroid profiling | - |
dc.subject.keywordPlus | 17-HYDROXYPROGESTERONE LEVELS | - |
dc.subject.keywordPlus | PRETERM INFANTS | - |
dc.relation.journalResearchArea | Obstetrics & Gynecology | - |
dc.relation.journalResearchArea | Pediatrics | - |
dc.relation.journalWebOfScienceCategory | Obstetrics & Gynecology | - |
dc.relation.journalWebOfScienceCategory | Pediatrics | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
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