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History of CAH Newborn Screening

Since the early 1950s, it has been known that Congenital Adrenal Hyperplasia (CAH) is caused by adrenal insufficiency and physicians have been able to treat it effectively through glucocorticoid replacement therapy.  It was not until 1977, however, that the first test for CAH became available when scientists at Cornell Medical Center in New York found a way to detect infants affected by CAH through the collection of blood on filter paper and then testing it for elevated levels of 17-hydroxyprogesterone (17-OHP).  In 1982, at an international Newborn Screening Meeting held in Tokyo, CAH was recommended for inclusion in newborn screening programs around the world based on its meeting the following criteria:

1. affected infants show no signs of the disorder at birth, but the condition is life threatening if not detected in the newborn period
2. a reliable test exists for the identification of the disorder
3. once diagnosed, the condition is highly treatable and prognosis for an affected child detected prior to on-set of symptoms is excellent

One of the core disorders recommended for testing by the American Academy of Pediatrics, American College of Medical Genetics, the March of Dimes and the CARES Foundation, CAH is included in the newborn screening programs of many countries as well as 50 of the United States, the District of Columbia and Guam.  Washington was the first state in the United States to test for CAH, the majority of states, however, began testing in the new millennium.

*Screening is approved but not yet implemented
**(through pilot program-optional for $4.00)

updated August 20, 2008