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      Neonatal Screening Program for Congenital Adrenal Hyperplasia: Adjustments to the Recall Protocol

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          Objective: To evaluate the influence of gestational age (GA) and birth weight (BW) on 17α-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.

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          Author and article information

          Horm Res Paediatr
          Hormone Research in Paediatrics
          S. Karger AG
          18 January 2002
          : 55
          : 6
          : 271-277
          Fundación de Endocrinología Infantil, Centro de Investigaciones Endocrinológicas CEDIE, División de Endocrinología Hospital de Niños R. Gutiérrez, Capital Federal, Argentina
          50012 Horm Res 2001;55:271–277
          © 2002 S. Karger AG, Basel

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          Page count
          Figures: 4, Tables: 3, References: 14, Pages: 7
          Original Paper


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