Since 2002, screening for Cystic fibrosis is performed in the maternity ward for all newborns. It is carried out on a few drops of dried blood, taken on the third day of the baby’s life. In this blood, the doctors will do the dosage of an enzyme called “immunoreactive trypsin”, and will search for the main mutations of cystic fibrosis.
When this screening test leads to the suspicion of cystic fibrosis, the parents of the baby are contacted by a doctor to carry out additional examinations in a cystic fibrosis resource and competence center (CRCM). The most decisive examination is the “sweat test” which measures the chlorine level in the newborn’s sweat. You should know that the increase in chlorine in sweat is specific to cystic fibrosis.
“The aim of this early screening is to enable children with cystic fibrosis to benefit from immediate care, to improve their vital prognosis and delay the signs of the disease such as deterioration of the lungs or digestive tract” explains the Vaincre la Mucoviscidose association, which has just launched a new information campaign in order to make the French population aware of this little-known disease.
Before this systematic screening, the path to formal diagnosis was long and difficult because the disease is expressed differently depending on the child: some are more affected in the lungs, others in the respiratory tract, and the symptoms are not specific to the disease (recurrent bronchitis, stomach aches, diarrhoea, etc.).
Since 2002, newborns who have been screened have been monitored very early on by a specialized team (paediatrician, pulmonologist, gastroenterologist, physiotherapist, psychologist, dietician, etc.). Consultations and check-ups are carried out preventively to slow the progression of the disease and check that the child is continuing to grow as well as possible.
Thanks to this early detection and to advances in medicine, the average age of life expectancy for patients with cystic fibrosis has increased and is now 47 years old.