Newborns across the province are now being screened for an additional 12 (formerly 6) treatable disorders through the BC Newborn Screening Program.

The 18 disorders screened through the program, a service of the Pro­vincial Health Services Authority (PHSA), include metabolic, endo­crine, blood disorders, and cystic fibrosis. In October 2010, a 19th disorder (congenital adrenal hyperplasia) will be added.

Early identification of these disorders allows treatment that may prevent severe mental handicap, growth problems, health problems, and sudden infant death. Blood collection takes place at all BC and Yukon hospitals where babies are delivered. About 40000 babies are screened each year; one in 1000 will be affected with one of these disorders (about 40 babies per year). The amount of blood required for the additional testing has not increased.

BC is one of the first jurisdictions in Canada to implement second-tier testing (an additional test performed on the original blood sample when the first screen is positive) for selected disorders. Running two tests before reporting the results helps confirm abnormal results and reduce false-positive results. Second-tier testing for cystic fibrosis was implemented in November 2009 and in 2010 will be implemented for six other conditions.

The program encourages physicians to talk to their pregnant pa­tients about newborn screening so they are prepared for it at the baby’s birth. Physicians are also welcome to refer their patients to the program website for details about screening. For more information, including an updated newborn screening guideline, patient pamphlets (in multiple languages), and disorder-specific information sheets, visit www.newbornscreeningbc.ca [8].