Newborn Screening

BC Children’s Hospital has improved the program that screens BC’s newborns for treatable conditions, meaning more babies are receiving life-saving treatment as soon as they need it. It used to be that the BC Newborn Screening Program only tested for six conditions. Now, babies in the province are screened for 22 conditions, including cystic fibrosis (CF), one of the most common lethal genetic disorders in children. Early treatment is key to better health outcomes in CF, as Whitehorse, Yukon mom, Amy Labonte, discovered soon after she gave birth to son Seamus.

Amy didn’t know anything about CF before she was told of Seamus’s diagnosis. “When Seamus was really young, he didn’t have the regular signs of CF,” she says. “If not for the screening program, I would have had this sick baby and not known why.”

CF mostly causes chronic lung and intestine problems. In the lungs, this condition can lead to severe breathing problems from repeated chest infections. In the digestive tract, CF makes it difficult to digest and absorb adequate nutrients from food, putting children at risk of malnutrition. Current treatments for managing CF include medications to digest food, chest physiotherapy and treatments preventing lung infections.

The newborn screening is done with a heel prick test at between 24 and 48 hours after birth. Samples are collected on a card and tested for CF, congenital hypothyroidism, Sickle Cell Disease, Maple Syrup Urine Disease and other rare conditions.

Dr. Hilary Vallance, director of the screening program, says the lab screens a baby every three minutes, or about 45,000 a year. Out of those, they make about 40 diagnoses.

Screening costs about $50 per baby, and only conditions that are treatable qualify. Dr. Vallance and her team spent about two years selecting disorders that made the most sense for screening. “The most conservative approach is to pick things that are treatable when early detection is going to make a difference,” she explains. “When you move towards things that are not easily treatable, you are likely to have a number of parents who don’t want testing done. There’s an ethical dimension to it.”

Read how Dr. Vallance's research is helping other kids.