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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.

AbstractBACKGROUND:
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.
AuthorsJa Young Seo, Hyung-Doo Park, Jong Won Kim, Hyeon Ju Oh, Jeong Soo Yang, Yun Sil Chang, Won Soon Park, Soo-Youn Lee
JournalJournal of perinatal medicine (J Perinat Med) Vol. 42 Issue 1 Pg. 121-7 (Jan 2014) ISSN: 1619-3997 [Electronic] Germany
PMID23989111 (Publication Type: Clinical Trial, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Biomarkers
  • Androstenedione
  • 17-alpha-Hydroxyprogesterone
  • Hydrocortisone
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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