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Public Health Genomics. 2009;12(2):67-72. doi: 10.1159/000156115. Epub 2008 Sep 14.

The cost effectiveness of screening newborns for congenital adrenal hyperplasia.

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University of Rochester, School of Medicine and Dentistry, Department of Community and Preventive Medicine, Division of Health Services Research and Policy, Rochester, NY 14642, USA.



To assess the cost effectiveness of newborn screening for congenital adrenal hyperplasia (CAH) in the U.S. newborn population.


We constructed a decision model to estimate the incremental cost-effectiveness ratio (ICER) of CAH screening compared to a strategy of no screening. Two types of cost effectiveness analyses (CEA) were conducted to measure ICER as net cost per life year (LY): (1) traditional CEA with sensitivity and scenario analyses, and (2) probabilistic CEA.


ICERs for (1) base-case analysis in traditional CEA and (2) probabilistic CEA were USD 292,000 and USD 255,700 per LY saved in 2005 USD, respectively. ICERs were particularly sensitive to assumptions regarding the mortality rate for the salt wasting type of CAH, in a range from 2 to 9%. The ICERs for best-case and worst-case scenarios were USD 30,900 and USD 2.9 million per LY saved, respectively.


Using common benchmarks for cost effectiveness, our results indicate that CAH screening would be unlikely to be considered cost effective unless assumptions favorable to screening were adopted, although it could meet economic criteria used to assess U.S. regulatory policies. A limitation is that the analysis excludes outcomes such as correct assignment of gender and quality of life.

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