California Newborn Screening Program

How Common Are These Disorders in California?

In California, between July, 2005 and July 2009 the prevalence of:

PKU is 1 in 40,000 births (classical PKU only)

Approximately 15-18 newborns with classical PKU are detected annually through the mandated Newborn Screening Program. Over 350 children have been identified with classical PKU since 1980.

Galactosemia is 1 in 88,000 births (classical only)

Approximately 4-8 newborns with galactosemia are identified in California every year.

Primary congenital hypothyroidism is 1 in 2,000 births

Approximately 275 newborns with primary congenital hypothyroidism are identified in California every year.

Sickle cell disease is about 1 per 4,400 births. The Newborn Screening Program detects approximately 100 - 125 newborns with sickle cell disease each year in California.

In California the incidence of Hemoglobin H disease is about 1 in 15,000 births, or about 35 to 40 cases per year are detected.

Congenital Adrenal Hyperplasia is about 1 in 17,000 births.

Approximately 26 newborns with Congenital Adrenal Hyperplasia are identified in California every year.

Cystic Fibrosis* is about 1 in 7,700 births.

Approximately 70 newborns with Cystic Fibrosis are identified in California every year.

*  Between June 2007 and July 2009