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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 / 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

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1619-3997
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Volume 42, Issue 1 (Jan 2014)

Issues

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
  • Corresponding author
  • Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
  • Email:
/ Soo-Youn Lee
  • Corresponding author
  • Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
  • Email:
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

References

  • [1]

    Allen DB, Hoffman GL, Fitzpatrick P, Laessig R, Maby S, Slyper A. Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels. J Pediatr. 1997;130:128–33Google Scholar

  • [2]

    Chace DH, Kalas TA, Naylor EW. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem. 2003;49:1797–817Google Scholar

  • [3]

    Hingre RV, Gross SJ, Hingre KS, Mayes DM, Richman RA. Adrenal steroidogenesis in very low birth weight preterm infants. J Clin Endocrinol Metab. 1994;78:266–70Google Scholar

  • [4]

    Janzen N, Peter M, Sander S, Steuerwald U, Terhardt M, Holtkamp U, et al. Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry. J Clin Endocrinol Metab. 2007;92:2581–9Google Scholar

  • [5]

    Janzen N, Sander S, Terhardt M, Peter M, Sander J. Fast and direct quantification of adrenal steroids by tandem mass spectrometry in serum and dried blood spots. J Chromatogr B Analyt Technol Biomed Life Sci. 2008;861:117–22Google Scholar

  • [6]

    Kwon C, Farrell PM. The magnitude and challenge of false-positive newborn screening test results. Arch Pediatr Adolesc Med. 2000;154:714–8Google Scholar

  • [7]

    Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, et al. Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem. 2004;50:621–5PubMedCrossrefGoogle Scholar

  • [8]

    Lee DH. The prevalence of pediatric endocrine and metabolic diseases in Korea. Korean J Pediatr. 2008;51:559–63Google Scholar

  • [9]

    Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, et al. Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2004;89:3687–93Web of ScienceGoogle Scholar

  • [10]

    Nordenstrom A, Wedell A, Hagenfeldt L, Marcus C, Larsson A. Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants. Pediatrics. 2001;108:E68Google Scholar

  • [11]

    Pang S, Hotchkiss J, Drash AL, Levine LS, New MI. Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1977;45:1003–8Google Scholar

  • [12]

    Rauh M. Steroid measurement with LC-MS/MS. Application examples in pediatrics. J Steroid Biochem Mol Biol. 2010;121:520–7Web of ScienceGoogle Scholar

  • [13]

    Rossi C, Calton L, Brown HA, Gillingwater S, Wallace AM, Petrucci F, et al. Confirmation of congenital adrenal hyperplasia by adrenal steroid profiling of filter paper dried blood samples using ultra-performance liquid chromatography-tandem mass spectrometry. Clin Chem Lab Med. 2011;49:677–84Web of ScienceGoogle Scholar

  • [14]

    Rossi C, Calton L, Hammond G, Brown HA, Wallace AM, Sacchetta P, et al. Serum steroid profiling for congenital adrenal hyperplasia using liquid chromatography-tandem mass spectrometry. Clin Chim Acta. 2010;411:222–8Google Scholar

  • [15]

    Schwarz E, Liu A, Randall H, Haslip C, Keune F, Murray M, et al. Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience. Pediatr Res. 2009;66:230–5Web of ScienceGoogle Scholar

  • [16]

    Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med. 2003;349:776–88Google Scholar

  • [17]

    Therrell BL. Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2001;30:15–30Google Scholar

  • [18]

    White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev. 2000;21:245–91Google Scholar

  • [19]

    Wong T, Shackleton CH, Covey TR, Ellis G. Identification of the steroids in neonatal plasma that interfere with 17 alpha-hydroxyprogesterone radioimmunoassays. Clin Chem. 1992;38:1830–7.Google Scholar

About the article

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, ISSN (Online) 1619-3997, ISSN (Print) 0300-5577, DOI: https://doi.org/10.1515/jpm-2013-0154.

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