Quebec to screen newborns for cystic fibrosis

Starting in the spring of 2018, newborns in Quebec will be screened for cystic fibrosis, the Quebec health department announced Thursday, to the delight of activists who have been pushing for early diagnosis for more than 10 years.

Quebec is the last jurisdiction in Canada, and among few places in the world, that doesn’t yet screen for cystic fibrosis, despite having a higher incidence of the disease. In Canada, it affects one in 3,500 babies; in Quebec, one in 2,500.

“The symptoms of cystic fibrosis are not specific and can be difficult to diagnose, which causes delays and health complications in children,” said Quebec Health Minister Gaétan Barrette.

“Neonatal screening will allow us to avoid these inconveniences and considerably improve the quality of life of those suffering from it.”

According to Cystic Fibrosis Canada, one of three major charitable organizations committed to finding a cure, cystic fibrosis is the most common fatal genetic disease affecting Canadian children and young adults.

It affects mainly the lungs and the digestive system. In the lungs, where the effects are most devastating, a buildup of thick mucus causes severe respiratory problems. Mucus also builds up in the digestive tract, making it difficult to digest and absorb nutrients from food.

Neonatal screening will prevent such potentially irreversible consequences as growth retardation and an increased risk of contracting pulmonary infections, the organization said, adding it would alleviate the strain on Quebec’s health care system by avoiding numerous visits to the emergency room.

The decision to institute neonatal blood screening was based on a study conducted by the Institut national de santé publique du Québec — Quebec’s public health institute — which found only one in five children with typical cystic fibrosis was diagnosed before the age of three months, while half were diagnosed in their first year of life.

Another 30 per cent were diagnosed before the age of five, and the remaining 20 per cent were diagnosed sometime before their 18th birthday.

CF Canada said this was a “huge win” for the health and well-being of Quebec’s children.

“Since 2006, CF Canada has been calling for the implementation of a newborn screening program in Quebec,” said Yannick Brouillette, regional executive director, CF Canada Quebec.

“Now that this has been realized, our mission is to continue to support CF families and the 11 Quebec clinics they depend on for essential care.”