[Neonatal mass screening for cystic fibrosis in south-east Poland]
Aleksandra Słuszniak1, Zuzanna Kurtyka, Dorota Lemańska
1Pracownia Badań Przesiewowych i Błedów Metabolicznych, Uniwersytecki Szpital Dzieciecy w Krakowie.
Insights
Neonatal mass screening in Poland enables early detection of cystic fibrosis, a common genetic disease. This allows for prompt therapeutic management, improving outcomes for newborns diagnosed with the condition.
Area of Science:
- Medical Genetics
- Neonatology
- Public Health
Context:
- Poland mandates neonatal mass screening for congenital diseases like cystic fibrosis.
- Cystic fibrosis is a prevalent autosomal recessive monogenic disorder in Caucasian populations.
- Early diagnosis via neonatal screening facilitates timely intervention.
Purpose:
- To evaluate the effectiveness of neonatal mass screening for cystic fibrosis in Poland.
- To assess the diagnostic process involving immunoreactive trypsin (IRT) and CFTR gene analysis.
- To determine the incidence and clinical presentation of cystic fibrosis in screened newborns.
Summary:
- Screening involved measuring IRT levels and performing DNA analysis for CFTR gene mutations.
- The incidence of cystic fibrosis was 1:7,477, with a carrier rate of 1:2,006 in southeast Poland.
- Five confirmed cases presented with malnutrition, edema, cholestasis, anemia, and fatty stools; two had CMV infections.
Impact:
- Neonatal screening facilitates early detection and management of cystic fibrosis, preventing malnutrition.
- Rapid diagnostic verification shortens the time to confirm the disease, enabling quicker therapeutic initiation.
- Effective management strategies include nutritional support and vitamin supplementation.
Unlabelled:
The objective of neonatal mass screening programs that are obligatory in Poland is an early detection of congenital diseases: hypothyreosis, phenylketonuria and cystic fibrosis. Cystic fibrosis is the most common genetic monogenic disease affecting Caucasian individuals and having an autosomal recessive inheritance pattern. Neonatal screening for cystic fibrosis allows for diagnosing the disease in the first month of life and early introduction of preventive-therapeutic management. In the period between June 1, 2009 and July 31, 2010, a total of 82,250 newborns were screened in the Krakow mass screening lab.
Methods:
Determinations of immunoreactive tripsin (IRT) by ELISA, and DNA analysis (searching for mutations in the CFTR gene by sequencing) if IRT was above 99.4 centile in blood on filter paper. The incidence of cystic fibrosis in south-east Poland was determined as 1:7,477, and carriership as 1:2,006. Of newborns with confirmed cystic fibrosis, five presented with signs of malnutrition, edemas, intrahepatic cholestasis and anemia. Almost all of these children passed fatty stools. Two were diagnosed with active CMV infections.
Conclusions:
1) Neonatal mass screening allows for early detection of cystic fibrosis and introduction of appropriate therapeutic management (prevention of malnutrition through supplying appropriate amount of protein, essential fatty acids, pancreatic enzymes and vitamin A and E supplementation). 2) Children are recalled for diagnosis verification immediately after genetic test results are available, what maximally shortens the time needed for confirming the disease.
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