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 chromatography-tandem 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.
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Authors | Ja Young Seo, Hyung-Doo Park, Jong Won Kim, Hyeon Ju Oh, Jeong Soo Yang, Yun Sil Chang, Won Soon Park, Soo-Youn Lee |
Journal | Journal of perinatal medicine
(J Perinat Med)
Vol. 42
Issue 1
Pg. 121-7
(Jan 2014)
ISSN: 1619-3997 [Electronic] Germany |
PMID | 23989111
(Publication Type: Clinical Trial, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Biomarkers
- Androstenedione
- 17-alpha-Hydroxyprogesterone
- Hydrocortisone
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Topics |
- 17-alpha-Hydroxyprogesterone
(blood)
- Adrenal Hyperplasia, Congenital
(blood, diagnosis)
- Androstenedione
(blood)
- Biomarkers
(blood)
- Chromatography, Liquid
- Dried Blood Spot Testing
- False Positive Reactions
- Follow-Up Studies
- Humans
- Hydrocortisone
(blood)
- Infant, Newborn
- Infant, Premature
- Infant, Premature, Diseases
(blood, diagnosis)
- Neonatal Screening
(methods)
- Predictive Value of Tests
- Prospective Studies
- Retrospective Studies
- Tandem Mass Spectrometry
- Tertiary Care Centers
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