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1761 Pitfalls of the Neonatal Screening Program for Congenital Adrenal Hyperplasia (CAH)
  1. HA Abu Hamdan,
  2. F Sabbagh,
  3. MM Abou Al-Seoud
  1. Neonatal Division - Paediatric Department, King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia


Background Prompt diagnosis and treatment of CAH is essential to prevent mortality and morbidity. The incidence of CAH ranges from 1 in 21270 (New Zealand) to 1 in 5000 (Saudi Arabia).

Our Aim:

  • Identify the incidence of CAH in our patient population.

  • Appraise the CAH screening program.

Method Retrospective analysis of filter paper blood samples from infants aged 36 hours or more collected from November 2007 - Sept 2011. The 17-hydroxyprogesterone (17-OHP) tests were part of metabolic screening program at KFAFH. Abnormal values were re-called.

Results 22381 of 22428 (99.7%) births were screened for CAH. The turnaround time was 10 days. 124 infants [males 89 (72%) females 31 (28%)] had abnormal levels and were re-called (recall rate 0.55%). 76 infants had repeated serum 17-OHP concentration (response rate 61%). 7 infants had abnormal elevated levels, 4 had ambiguouse genitalia(karyotype female), 3 male infants had symptoms of salt wasting at age of 9.10 and 37 days, turnaround time for the screening results was 11.9 and 16 days respectively. Delayed identification was due to failed contact and response in case 2 and 3 respectively. Recall failure was in 48/124 (39%) reasons were wrong contact numbers in 36 cases (75%) and no show in 10 cases (21%). Failure to repeat in 2 preterm infants died secondary to prematurity.

Conclusion The incidence of CAH is 1 in 3333 in our patient population. Barriers for timely intervention were due to prolonged turnaround time, lack of family education. Strategies to improve the process should be implemented.

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