Newborn screening versus clinical diagnosis: comparison of nutritional status in children with cystic…

ObservationalRevista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo· 2026

Newborn screening versus clinical diagnosis: comparison of nutritional status in children with cystic fibrosis - a longitudinal study.

Gabriella Santana Fernandes Dos Santos, Carla Hilário da Cunha Daltro, Edna Lúcia D'Souza

Biochemical GeneticsObservationalPrognosisQ2IF 1.3

More than half of newborn-screened infants with cystic fibrosis had short stature at diagnosis.

Newborn screening versus clinical diagnosis: comparison of nutritional status in children with cystic fibrosis - a longitudinal study.

Gabriella Santana Fernandes Dos Santos … Edna Lúcia D'Souza

Revista paulista de pediatria · 2026 · Q2 in Pediatrics

Purpose

The aim of this study was to compare the nutritional status of individuals with cystic fibrosis (cystic fibrosis) diagnosed either through newborn screening (newborn screening) or based on clinical findings (early vs. late), at the time of diagnosis and 1 year later.

Methods

Were classified into three subgroups according 1 (newborn screening); 2 (early signs and symptoms if the cystic fibrosis diagnosis was before 2 years of age); and 3 (late signs and symptoms if the cystic fibrosis diagnosis was after 2 years of age).

n = 63 individuals

Results

most had short stature at diagnosis, even those caught by newborn screening

Subgroup 1 (NBS)

57.1%

Subgroup 2 (early)

43.5%

Subgroup 3 (late)

21.1%

More results

There were 21, 23, and 19 in subgroups 1, 2, and 3, respectively.

After 1 year, these proportions decreased to 28.5 and 30.4% in subgroups 1 and 2, while remaining unchanged in subgroup 3.

Pancreatic insufficiency was present in 85.7, 69.6, and 68.4% of participants in subgroups 1, 2, and 3, respectively.

“

Conclusion · 1 of 2

Short stature was frequent at diagnosis, even among children identified by newborn screening. After 1 year of follow-up, height improved in subgroups 1 and 2 but remained unchanged in subgroup 3.

Conclusion · 2 of 2

Early diagnosis and timely nutritional interventions are essential to prevent and correct growth deficits in individuals with cystic fibrosis.

Newborn screening versus clinical diagnosis: comparison of nutritional status in children with cystic fibrosis - a longitudinal study.

Newborn screening versus clinical diagnosis: comparison of nutritional status in children with cystic fibrosis - a longitudinal study.

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