Results of the neonatal screening programme for genetic diseases in the Municipality of La Lisa during the period 2017-2021

Authors

Keywords:

NEWBORN SCREENING, NEONATAL SCREENING, HEREDITARY METABOLIC DISEASES.

Abstract

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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Author Biographies

Yuselis Torres-Sánchez, Centro Municipal de Genética Médica. Municipio La Lisa. Policlínico Cristóbal Labra

Licenciada en Enfermería. Máster en atención integral a la mujer. Máster en Asesoramiento Genético

Roberto Lardoeyt-Ferrer, Universidad de Ciencias Médicas de La Habana. Facultad de Ciencias Médicas Manuel Fajardo.

Doctor en Medicina. Especialista de I y II Grado en Genética Clínica. Doctor en Ciencias Médicas. Profesor Titular de la Universidad de Ciencias Médicas de La Habana. Investigador Titular

Miladys Orraca-Castillo, Universidad de Ciencias Médicas de La Habana

Especialista de I y II Grado en Genética Clínica. Doctor en Ciencias Médicas. Profesor Titular de la Universidad de Ciencias Médicas de La Habana. Investigadora Titular

Maydelin Valdés-Sánchez, Universidad de Ciencias Médicas de La Habana. Facultad de Medicina Julio Trigo

Licenciada en Educación, Especialidad Biología. Máster en Educación Médica. Profesora auxiliar

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Published

2023-08-15

How to Cite

1.
Torres-Sánchez Y, Lardoeyt-Ferrer R, Orraca-Castillo M, Valdés-Sánchez M. Results of the neonatal screening programme for genetic diseases in the Municipality of La Lisa during the period 2017-2021. Rev Ciencias Médicas [Internet]. 2023 Aug. 15 [cited 2025 Sep. 16];27:e5928. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/5928

Issue

Vol. 27 (2023): (Sistema de Publicación Continua)

Section

ORIGINAL ARTICLES

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