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Journal of Perinatal Medicine

Official Journal of the World Association of Perinatal Medicine

Editor-in-Chief: Dudenhausen, Joachim W.

Editorial Board Member: / Bancalari, Eduardo / Milner, Anne / Genc, Mehmet R. / Chervenak, Frank A. / Chappelle, Joseph / Bergmann, Renate L. / Bernardes, J.F. / Bevilacqua, G. / Blickstein, Isaac / Cabero Roura, Luis / Carbonell-Estrany, Xavier / Carrera, Jose M. / D`Addario, Vincenzo / D'Alton, MD, Mary E. / Dimitrou, G. / Grunebaum, Amos / Hentschel, Roland / Köpcke, W. / Kawabata, Ichiro / Keirse, Marc J.N.C. / Kurjak M.D., Asim / Lee, Ben H. / Levene, Malcolm / Lockwood, Charles J. / Marsal, Karel / Makatsariya, Alexander / Nishida, Hiroshi / Ogata, Edward / Papp, Zoltán / Pejaver, Ranjan Kumar / Pooh, Ritsuko K. / Romero, Roberto / Saugstad, Ola D. / Schenker, Joseph G. / Sen, Cihat / Seri, Istvan / Vetter, Klaus / Winn, Hung N. / Young, Bruce K. / Zimmermann, Roland

9 Issues per year


IMPACT FACTOR increased in 2015: 1.798
Rank 46 out of 120 in category Pediatrics in the 2015 Thomson Reuters Journal Citation Report/Science Edition

SCImago Journal Rank (SJR) 2014: 0.731
Source Normalized Impact per Paper (SNIP) 2014: 0.687
Impact per Publication (IPP) 2014: 1.483

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1619-3997
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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

Ja Young Seo
  • Department of Laboratory Medicine, Gachon University Gil Medical Center, Incheon, Korea
  • Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
/ Hyung-Doo Park
  • Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
/ Jong Won Kim
  • Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
/ Hyeon Ju Oh
  • Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
/ Jeong Soo Yang
  • Clinical Trial Center, Clinical Research Institute, Samsung Medical Center, Seoul, Korea
/ Yun Sil Chang
  • Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
/ Won Soon Park
  • Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
  • :
/ Soo-Youn Lee
  • Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
  • :
Published Online: 2013-08-29 | DOI: https://doi.org/10.1515/jpm-2013-0154

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.

Keywords: Congenital adrenal hyperplasia; LC-MS/MS; preterm neonate; second-tier test; steroid profiling

Corresponding authors: Won Soon Park, MD, PhD, Professor, Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea, Tel.: +82 2 3410 3523, Fax: +82 2 3410 0043, E-mail: ; Soo-Youn Lee, MD, PhD, Associate Professor, Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea, Tel.: +82 2 3410 1834, Fax: +82 2 3410 2719, E-mail:


Received: 2013-06-26

Accepted: 2013-08-06

Published Online: 2013-08-29

Published in Print: 2014-01-01


Citation Information: Journal of Perinatal Medicine. Volume 42, Issue 1, Pages 121–127, ISSN (Online) 1619-3997, ISSN (Print) 0300-5577, DOI: https://doi.org/10.1515/jpm-2013-0154, August 2013

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