Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care

Area of Science:

• Medical Genetics
• Pediatrics
• Pulmonology

Background:

• Cystic Fibrosis (CF) diagnosis traditionally relies on clinical manifestations.
• Newborn screening (NBS) aims for earlier detection of genetic diseases.
• The effectiveness of NBS for CF in the Moscow region was previously unevaluated.

Purpose of the Study:

• To compare the effectiveness of CF detection through screening versus clinical diagnosis.
• To evaluate patient outcomes based on diagnosis timing (pre-screening vs. post-NBS).
• To analyze differences in health indicators for CF patients, particularly F508del homozygotes.

Main Methods:

• Comparative analysis of data from the National CF Patient Registry (NCFPR) for 2012 (pre-NBS) and 2015 (post-NBS).
• Inclusion of children aged 6-9 years diagnosed with CF in the Moscow region.
• Separate analysis of patients homozygous for the c.1521_1523delCTT (F508del) mutation.

Main Results:

• Newborn screening (NBS) identified nearly twice as many CF patients compared to clinical diagnosis.
• Patients diagnosed via NBS showed earlier diagnosis age and improved pulmonary function.
• NBS-diagnosed patients had fewer cases of chronic *Pseudomonas aeruginosa* infection and better growth percentiles.

Conclusions:

• Newborn screening (NBS) is more effective in detecting cystic fibrosis (CF) patients than clinical diagnosis.
• Early diagnosis and therapy initiation through NBS significantly benefit CF patients.
• Screening improves key health indicators, including lung function and infection rates.