Results of the Andalusian Cystic Fibrosis Neonatal Screening Program, 5 Years After Implementation. / Resultados del programa de screening neonatal de fibrosis quística en Andalucía tras 5 años de su implantación.
Arch Bronconeumol (Engl Ed)
; 54(11): 551-558, 2018 Nov.
Article
em En, Es
| MEDLINE
| ID: mdl-29983195
ABSTRACT
INTRODUCTION:
Cystic fibrosis neonatal screening (CFNS), based on double determination of immunoreactive trypsinogen ([IRT] [IRT1/IRT2]), has been available in Andalusia since May 2011. If screening is positive, a sweat test is performed, and if that is positive or inconclusive, genetic testing is requested.OBJECTIVE:
To analyze CFNS, based on results from the first 4.5 years of the program. MATERIALS ANDMETHODS:
Prospective descriptive study of neonates undergoing CFNS. IRT levels, sweat chloride, and mutations were recorded. Statistical analysis was performed using SPSS 12.0.RESULTS:
Between May 2011 and December 2016, 474,953 neonates underwent CFNS. Of these, 1,087 (0.23%) had elevated IRT2. Since CFNS was introduced, 73 cases of cystic fibrosis were diagnosed; 60 were diagnosed by positive CFNS, and 13 were diagnosed by other means. In one case, the patient developed a typical clinical picture of cystic fibrosis, but had not undergone CFNS at the decision of the parents; the remaining 12 had a negative CFNS (false negatives). Of these, one patient was diagnosed before symptoms developed, as his twin brother had a positive CFNS result; another had chloride at the upper limit of normal, and was subsequently diagnosed with genetic testing before symptoms appeared; and 10 patients developed clinical signs and symptoms. Excluding patients with meconium ileus, sensitivity and specificity of the CFNS program were 85.71% and 99.78%, respectively. The incidence of the disease in Andalusia is 1/6,506 live births.CONCLUSION:
These results are a basis for reflection on possible areas for improvement of the CFNS algorithm, and thought may be given to the introduction of genetic studies to increase sensitivity and reduce false positives.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Triagem Neonatal
/
Fibrose Cística
Tipo de estudo:
Diagnostic_studies
/
Evaluation_studies
/
Observational_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
/
Sysrev_observational_studies
Aspecto:
Implementation_research
Limite:
Female
/
Humans
/
Male
/
Newborn
País/Região como assunto:
Europa
Idioma:
En
/
Es
Revista:
Arch Bronconeumol (Engl Ed)
Ano de publicação:
2018
Tipo de documento:
Article