Symptoms, screening and diagnosis

In 2014 all newborns were screened with a few drops of dried blood drawn on the third day of life. Above a given threshold of an enzyme called "trypsin", the search for the main cystic fibrosis (CF) mutations is carried out with the parents' agreement. The diagnosis is then confirmed by the measurement of chlorine levels in sweat, known as the "sweat test".

symptoms

Diagnosis through screening

In 2014 all newborns were screened with a few drops of dried blood drawn on the third day of life. Above a given threshold of an enzyme called "trypsin", the search for the main cystic fibrosis (CF) mutations is carried out with the parents' agreement. The diagnosis is then confirmed by the measurement of chlorine levels in sweat, known as the "sweat test".
 
Systematic neonatal screening for CF aims to ensure that each newborn for whom the diagnosis is confirmed benefits from immediate care according to the national healthcare protocol, validated by the CF specialists
Early diagnosis helps the multidisciplinary team to establish a good relationship with the child and parents.
 
Diagnosis through symptoms
Symptoms among the following orient the diagnosis:

  • • an intestinal occlusion at birth that is often referred to as "meconium ileus"
    • inadequate weight gain despite a sometimes voracious appetite
    • poor digestion with abundant "greasy" stools, sometimes abdominal pain
    • a chronic and exhausting cough, difficult expectoration
    • particularly salty sweat
     

*The information provided on this website is intended to improve, not to replace, the relationship that exists between the patient (or visitor to the website) and healthcare professionals.

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