Cystic Fibrosis: Newborn Screening in Quebec Explained

Visit cystic fibrosis (CF) is the the most common life-threatening genetic disorder among Canadian children. Thanks to the neonatal screening, the diagnosis is now made within the first few weeks of life, before complications arise. This article explains what CF is, how the Quebec Neonatal Blood and Urine Screening Program (PQDNSU) works, what happens in the event of a positive test result, and how the introduction of CFTR modulators has transformed the prognosis for the disease.

On this page

• What Is Cystic Fibrosis?
• Neonatal Screening in Quebec (PQDNSU)
• If the test is positive
• Why Early Detection Makes All the Difference
• The Care Pathway at a Specialized FK Clinic
• For adults living with cystic fibrosis
• Family Support and Upcoming Pregnancy
• Myths and Misconceptions
• Frequently asked questions
• Sources

What Is Cystic Fibrosis?

Visit cystic fibrosis is caused by mutations in the CFTR gene, which encodes a protein that regulates ion transport chloride through cell membranes [1]. The secretions become thick and block the bronchi, the pancreas, and other organs.

The main clinical manifestations

• Respiratory infections recurrent (bronchitis, pneumonia, chronic exacerbations)
• Cough chronic condition with thick sputum
• Digestive disorders with malabsorption
• In this greasy, abundant, foul-smelling
• Growth Delay body mass index
• Nasal polyposis, chronic sinusitis
• Diabetes associated with cystic fibrosis (DAFK), often during adolescence or adulthood
• Hepatobiliary disorder possible
• Male Infertility in most cases among adult men with

An autosomal recessive disorder

• FK is transmitted through autosomal recessive : A person must inherit two mutated copies of the CFTR gene (one from each parent) to develop the disease
• A person wearing only’a modified copy is a carrier but is not sick
• In Canada, approximately 1 in 25 people is a carrier of a CFTR mutation
• The incidence of FK is approximately 1 birth out of 3,600 in Canada [2]
• More 2,000 transfers Mutations in the CFTR gene have been described, some of which are more common (notably F508del)

Key Takeaways

• Visit cystic fibrosis is the most common life-threatening genetic disorder among Canadian children [2]
• Visit PQDNSU has enabled diagnosis within the first few weeks of life since 2018 [3]
• Visit sweat test remains the gold standard test for confirming the diagnosis
• Visit multidisciplinary care Treatment at a specialized clinic changes the course of the disease
• Visit CFTR modulators (ivacaftor, lumacaftor, tezacaftor, elexacaftor) have profoundly changed the prognosis for a large proportion of patients [4]
• L’median life expectancy has improved significantly: the majority of people with the condition now live into adulthood and lead active lives

Neonatal Screening in Quebec (PQDNSU)

Visit Quebec Neonatal Blood and Urine Screening Program (PQDNSU) has included cystic fibrosis since 2018 [3]. This is a universal screening program, offered to all newborns in Quebec, that involves a simple blood test.

How Does Screening Work?

• All the newborns are offered a heel prick blood test between 24 and 48 hours of life
• The test is conducted at the maternity, by a healthcare professional
• A few drops of blood are placed on a blotting card
• The sample is sent to the screening laboratory
• Visit Immunoreactive trypsinogen (IRT) assay is done right from the start
• In case of’High IRTa genetic analysis is performed on the same sample to identify the most common CFTR mutations
• Visit result is usually available within a few weeks

Other diseases screened for by the PQDNSU

• Phenylketonuria and other disorders of amino acid metabolism
• Congenital Hypothyroidism
• Sickle cell anemia and other hemoglobinopathies
• MCAD Deficiency and other fatty acid oxidation disorders
• Organic acidoses
• Tyrosinemia Type 1
• Cystic Fibrosis
• The program is regularly updated with the addition of new conditions based on scientific advice

Screening Performance

• The sensitivity of the FK screening is high, which makes it possible to identify the vast majority of cases
• As with any screening, there are false positives and a few false negatives may occur
• A screening test positive is not a diagnosis: it points toward the sweat test and a clinical evaluation
• The program is volunteer and requires parental consent

If the test is positive

A screening test positive does not mean that the child is sick: it means that a further evaluation is necessary. The process is structured and quick.

Steps to Take After a Positive Test Result

1. Visit family is summoned for a sweat test, a standard test to confirm or rule out the diagnosis
2. A reference At specialized clinics, FK testing is performed quickly (Sainte-Justine University Hospital, McGill University Health Center / Montreal Children's Hospital, Quebec University Hospital, depending on the region)
3. A multidisciplinary care plan is established in collaboration with a pulmonologist, gastroenterologist, nutritionist, physical therapist, primary nurse, and other professionals as needed
4. A comprehensive genetic analysis can be performed to identify the specific CFTR mutations involved
5. Visit family receives medical, psychological, and social support tailored to the situation
6. Visit siblings and parents can be informed about carrier screening options if they wish

The sweat test: the gold standard

• Measures the chloride concentration in a sweat
• A high concentration is very reminiscent of FK
• The exam is painless and noninvasive
• It is made from specialized centers to ensure the quality of the measurement
• A normal result allows the disease to be ruled out in the vast majority of cases
• A high score confirms the suspicion and refers the patient to specialized care

Why Early Detection Makes All the Difference

Visit early diagnosis enables action before to prevent complications from developing. This is one of the major advances of modern medicine for FK [2].

Documented Benefits

• Quick setup of’pancreatic enzymes and a supplementation to prevent malnutrition
• Respiratory physiotherapy preventive care starting in the first few months
• Monitoring active respiratory infections and early treatment of exacerbations
• Nutritional Monitoring and support for growth
• Access CFTR modulators when indicated based on the mutation and age
• Psychosocial support for the family from the moment of diagnosis
• Vaccination reinforced in accordance with the FK's specific recommendations

The Impact on Growth and the Lungs

• Visit children screened at birth show significantly better growth than those diagnosed at a later stage
• Visit lung is the organ that has the greatest impact on the long-term prognosis
• Visit early treatment helps maintain respiratory function
• Visit delay The diagnosis is associated with more severe nutritional, respiratory, and psychosocial complications

The Care Pathway at a Specialized FK Clinic

In Quebec, children and adults living with cystic fibrosis are treated at specialized clinics recognized, grouped within the Canadian Cystic Fibrosis Registry [2]. This multidisciplinary care is the cornerstone of the care pathway.

The Multidisciplinary Team

• Pulmonologist pediatrician or adult physician, primary care physician
• Gastroenterologist and a hepatologist as needed
• Nutritionist for growth and an appropriate caloric intake
• Physical Therapist specializing in respiratory physical therapy
• Lead Nurse who coordinates care and serves as a liaison with the family
• Social worker and psychologist
• Pharmacist specialized
• Endocrinologist in the event of DAFK
• Microbiologist for monitoring respiratory infections
• Genetic Counselor for the family

Frequency and Content of Visits

• Usually followed up every 3 months, sometimes at shorter intervals in children and during acute episodes
• Evaluation respiratory (clinical, pulmonary function tests starting at a certain age)
• Evaluation nutritional (weight, height, BMI, pancreatic enzyme and vitamin levels)
• Respiratory Samples to monitor bacterial colonization
• Adjustment of the respiratory physical therapy
• Financial Statements blood tests as needed (blood sugar, liver function, fat-soluble vitamins, etc.)
• Discussion on the systemic treatments, including CFTR modulators
• Support psychosocial and educational

Do you have a loved one with cystic fibrosis and are looking to organize comprehensive health care in addition to their current treatment? Omicron Clinic offers pediatric and adult care, as well as treatment for common respiratory conditions, complementing the specialized FK clinics at our locations in Quebec. Make an appointment or opt for the teleconsultation for a general assessment or follow-up evaluation.

For adults living with cystic fibrosis

The arrival of the CFTR modulators has transformed the prognosis for a a large proportion people with the disease [4]. Median life expectancy is increasing rapidly, and a growing number of people living with CF are reaching adulthood with a active life.

CFTR modulators

• Visit CFTR modulators (ivacaftor, lumacaftor, tezacaftor, elexacaftor) directly target the defective CFTR protein [4]
• They are effective only in the presence of certain mutations specific
• The jumpsuit elexacaftor/tezacaftor/ivacaftor has profoundly changed the way things are done since his arrival
• The observed benefits include a improved lung functiona discount exacerbations, a best nutrition and a better quality of life
• Visit tolerance is generally good, but requires regular follow-up
• L’access In Quebec, this process involves specialized clinics and evaluation by expert committees

Adulthood and FK

• Education, a career and social engagement are possible, with adjustments based on the severity
• Physical Activity and exercise are encouraged, as they are beneficial for respiratory health
• Support for the fertility and the parenting plan, in collaboration with the assisted reproduction teams
• Tracking especially in cases of DAFK or liver damage
• Transition a structured transition from pediatric care to adult care, a key step in maintaining adherence and the quality of care
• Social Life, travel, sports: Most everyday activities remain accessible with proper planning

When a lung transplant is being considered

• Visit lung transplant remains an option for the most advanced cases
• With CFTR modulators, the appeal to the court clerk's office is less common than before among patients eligible for modulators
• L’evaluation is performed at specialized transplant centers
• Visit post-transplant follow-up is demanding and multidisciplinary

Family Support and Upcoming Pregnancy

Being diagnosed with cystic fibrosis with a newborn is a difficult time. Supporting the family is an integral part of modern care, and there are several options available related to the subsequent pregnancies.

Support for Parents and Siblings

• Accompaniment by the lead nurse and the FK Clinic team
• Psychological support or social work services available as soon as a diagnosis is made
• Groups support for Quebec families (Cystic Fibrosis Canada, regional chapters)
• Genetic Counseling to better understand the disease and its implications for families
• Information clear and appropriate for the age of the children and older siblings
• Resources reliable online resources and organizations

Options for Future Pregnancies

• Genetic Counseling Recommended for parents of a child with
• Carrier Screening at their parents' house and with certain family members
• Discussion options for future pregnancies (prenatal diagnosis, preimplantation diagnosis in certain cases)
• The choices are up to the family, supported by professionals
• L’information is neutral and respectful, without imposing any particular viewpoint

Myths and Misconceptions

«Cystic fibrosis is a disease that primarily affects the lungs.»

Mostly fake. FK is a multisystem disease. Respiratory symptoms are the most noticeable, but the pancreas, liver, sinuses, genital tract, and sugar metabolism are also affected. This is precisely why monitoring is multidisciplinary.

«If the newborn screening comes back positive, my baby must be sick.»

False. A positive test result is a indication for further evaluation, not a diagnosis. The sweat test and, in some cases, comprehensive genetic testing can confirm or rule out CF. Some babies who test positive ultimately do not have the disease.

«FK isn't handled the same way it used to be.»

True. The prognosis and management have changed dramatically over the past 20 years: neonatal screening, targeted antibiotic therapy, respiratory physical therapy, appropriate nutrition, and now CFTR modulators. Median life expectancy is rising rapidly.

«My child, who is a carrier, will develop FK later in life.»

False. To be carrier A single mutated copy of the CFTR gene does not cause the disease. Carriers are healthy. The risk of cystic fibrosis exists only if the child inherits two mutated copies, which means that both parents must be carriers or have the disease.

«FK is a childhood disease.»

False. More and more people living with cystic fibrosis are reaching adulthood and leading active lives. The FK Clinics for Adults are now very well organized, and the transition from pediatric to adult care is a key step in the care pathway.

Frequently asked questions

Is neonatal screening for cystic fibrosis mandatory in Quebec?

No. The program is universally available to all families, but it is volunteer. Parents give their consent for the sample collection at the maternity ward. Screening is strongly recommended, as it allows for early management of the targeted diseases, including cystic fibrosis.

Can screening miss a case of cystic fibrosis?

Like any screening test, the PQDNSU is not perfect. Its sensitivity is very high, but some cases may be missed, particularly those associated with rare mutations. That is why any child with suggestive symptoms (recurrent respiratory infections, growth delay, fatty stools) should undergo a medical evaluation, even if the neonatal screening was negative.

How long will it take to get the test results?

Results are usually available within a few weeks of the sample collection. If the result is positive, the family is contacted promptly to schedule the sweat test and an evaluation at a specialized clinic. The speed of this process is one of the strengths of the Quebec program.

My child has FK. Should I avoid other children with the condition?

FK clinics recommend guidelines for cross-prevention among affected patients, due to the risk of transmission of certain bacteria (particularly species of the genus Burkholderia). These rules are explained by the treating team. They do not prevent patients from leading a normal social life outside of these settings.

Are CFTR modulators available in Quebec?

Several CFTR modulators, including the combination of elexacaftor/tezacaftor/ivacaftor, are available in Quebec through specialized FK clinics, subject to current reimbursement requirements and medical criteria. Evaluations are conducted on a case-by-case basis depending on the mutations, age, and clinical profile.

What should I do if I am a carrier or if my spouse is a carrier?

Visit genetic counseling is the key step. It allows for an assessment of the likelihood that both parents are carriers, the risk to future children, and the available options (carrier screening, prenatal or preimplantation diagnosis, depending on the situation). The decisions are up to the couple, with support from genetic professionals.

Sources

1. Canadian Paediatric Society. Cystic Fibrosis: Overview and Management.
2. Cystic Fibrosis Canada. Information on the disease, treatment, and research.
3. Quebec Ministry of Health and Social Services. Quebec Neonatal Blood and Urine Screening Program (PQDNSU).
4. INESSS — National Institute for Excellence in Health and Social Services. Evaluation of CFTR Modulators.
5. INSPQ — Quebec National Institute of Public Health. Neonatal Monitoring and Genetic Disorders.
6. Cystic Fibrosis Foundation. International Guidelines on Cystic Fibrosis.
7. WHO — World Health Organization. Genetic Diseases and Public Health.

Medical consultation | Clinique Omicron