Literature DB >> 11805430

Neonatal screening program for congenital adrenal hyperplasia: adjustments to the recall protocol.

L Gruñeiro-Papendieck1, L Prieto, A Chiesa, S Bengolea, G Bossi, C Bergadá.   

Abstract

OBJECTIVE: To evaluate the influence of gestational age (GA) and birth weight (BW) on 17 alpha-OH-progesterone (17-OHP) levels with respect to their impact on the recall rate of neonatal screening programs for congenital adrenal hyperplasia (CAH). PATIENTS AND METHODS: In June 1997 we began a pilot screening program for CAH measuring 17-OHP using a fluoroimmunoassay method (DELFIA) on dried blood spots. Until September 1999, 24,153 babies were screened. Among them, we analyzed the levels of 17-OHP in 1,313 samples from healthy preterm babies (23-36 weeks) and 1,500 term babies (>37 weeks), grouped according to GA and BW. All preterm babies underwent another sampling in their 2nd week of life.
RESULTS: 5 CAHs were detected. The 30-nmol/l cutoff limit for 17-OHP in blood corresponded to the calculated 99th percentile in term newborns, while in preterm babies higher levels were found. GA and BW correlated inversely with 17-OHP levels.
CONCLUSION: GA and BW were useful tools to adjust cutoff levels, obtaining a significant reduction in follow-up testing and psychological stress for families. The high false-positive recall rate in preterm babies can be substantially lowered with adjusted GA and/or BW criteria. Copyright 2002 S. Karger AG, Basel

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Year:  2001        PMID: 11805430     DOI: 10.1159/000050012

Source DB:  PubMed          Journal:  Horm Res        ISSN: 0301-0163


  5 in total

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Journal:  Eur J Pediatr       Date:  2006-09-22       Impact factor: 3.183

Review 2.  Neonatal screening for congenital adrenal hyperplasia.

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Journal:  Nat Rev Endocrinol       Date:  2009-09       Impact factor: 43.330

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4.  Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?

Authors:  Paolo Cavarzere; Margherita Mauro; Monica Vincenzi; Silvana Lauriola; Francesca Teofoli; Rossella Gaudino; Diego Alberto Ramaroli; Rocco Micciolo; Marta Camilot; Franco Antoniazzi
Journal:  Ital J Pediatr       Date:  2018-01-16       Impact factor: 2.638

5.  Two cases of reversible male infertility due to congenital adrenal hyperplasia combined with testicular adrenal rest tumor.

Authors:  Mikito Tanaka; Noritoshi Enatsu; Koji Chiba; Masato Fujisawa
Journal:  Reprod Med Biol       Date:  2017-10-17
  5 in total

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