Newborn Screening Program for Cystic Fibrosis in Cuba: Three Years' Experience
J. inborn errors metab. screen
; 11: e20220012, 2023. tab, graf
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1440459
Responsible library:
BR1.1
ABSTRACT
ABSTRACT In Cuba, newborn screening (NBS) for cystic fibrosis (CF) was introduced in January 2019. The results from the first three years of the CF NBS program are presented. An IRT/IRT protocol was followed using a cut-off value of 50 ng/mL. In this period 281,717 neonates were screened, 2,197 samples had increased IRT values, and a second sample was necessary (recall rate=0.78%). In 686 (0.24%) neonates, IRT was still elevated, and they were referred for clinical evaluation. Twenty-one children were confirmed by sweat test and molecular biology. Eighteen newborns presented variant F508del. A false negative case was reported. Demographic data of 32,764 neonates were collected. The average age of sampling was six days with results available at 11 days of life, but 1.7% of the samples were collected 20 days after birth. The mean IRT value was 12.7±11.7 ng/mL (ranging 0-283 ng/mL) with a calculated 98.5 percentile value of 42.4 ng/mL. On average, the samples were processed five days after collection and two days after they were received at the laboratory. Although CF NBS program in Cuba is just beginning, it can be predicted that CF will be one of the most frequent inherited-metabolic diseases in the Cuban population.
Full text:
Available
Collection:
International databases
Database:
LILACS
Type of study:
Diagnostic study
/
Practice guideline
/
Screening study
Country/Region as subject:
Cuba
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2023
Document type:
Article
Affiliation country:
Cuba
/
Puerto Rico
Institution/Affiliation country:
GK Pharmaceuticals CMO/PR
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Hospital Universitario General Calixto García,/CU
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Immunoassay Center/CU
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National Center of Medical Genetics/CU
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University of Havana/CU