Introduction:

neonatal screening for genetic diseases in Cuba constitutes a population-based genetic preventive program that guarantees early diagnosis and treatment of six clinical entities.

Objective:

to describe the results of the neonatal screening program for genetic diseases in the municipality La Lisa, in the period 2017-2021.

Methods:

an observational, descriptive, cross-sectional study was conducted in 7 765 newborns. Coverage at the fifth day, non-useful samples and positive screening results were determined. Percentage was used as a statistic for qualitative variables.

Results:

the coverage of the program at the fifth day was 88,60 %. Of the total number of samples analyzed, 469 (6,03 %) were not useful due to inadequate sample collection and preservation. There were 81 (1,04 %) positive SUMA results. None of them confirmed the disease.

Conclusions:

100 % coverage was not reached on the fifth day, but after it, showing that there are still difficulties in obtaining, preserving and transporting the biological sample, as evidenced by the percentage of non-useful samples. Both factors, together with prematurity, antibiotic medication and breastfeeding before the test, could have an impact on the interferences of false positives obtained in the SUMA analysis. None of the six diseases that were investigated during the study period were found, demonstrating the low prevalence of these diseases in the municipality.

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