[Results of the neonatal screening on Western Andalusia after a decade of experience.]
Carmen Delgado-Pecellín1, Isabel Álvarez Ríos1, María Del Amor Bueno Delgado2
1Unidad de Metabolopatías. Hospital Universitario Virgen del Rocío. Sevilla. España.
Insights
Neonatal screening in Andalusia identified congenital hypothyroidism in 1:1565 newborns, expanded screening in 1:1532, cystic fibrosis in 1:6,878, and sickle cell disease in 1:11,115.
Area of Science:
- Medical screening
- Pediatrics
- Genetics
Background:
- Neonatal screening programs are crucial for early detection of congenital diseases.
- Andalusia's program includes congenital hypothyroidism, expanded screening, cystic fibrosis, and sickle cell anemia.
Purpose of the Study:
- To describe experience with neonatal screening.
- To determine disease prevalence in Andalusia's screening program.
Main Methods:
- Analysis of 435,141 newborns for congenital hypothyroidism and expanded screening (2009-2019).
- Analysis of 378,306 newborns for cystic fibrosis (2011-2019).
- Analysis of 55,576 newborns for sickle cell anemia (2018-2019).
Main Results:
- Prevalence: Congenital hypothyroidism 1:1565, expanded screening 1:1532, cystic fibrosis 1:6,878, sickle cell disease 1:11,115.
- Data collected from Western Andalusia and Ceuta.
Conclusions:
- Neonatal screening enables early detection of serious congenital diseases.
- Early detection improves outcomes, reducing morbidity and mortality.
Objective:
The main justification of this study was to describe our experience in neonatal screening and to define the prevalence of the diseases included in the neonatal screening program in Andalusia, among which are congenital hypothyroidism, expanded screening (aminoacidopathies, mitochondrial beta-oxidation defects and organic acidurias), cystic fibrosis, and screening for sickle cell anemia.
Methods:
The study was carried out in the Metabolopathies Unit of the Virgen del Rocío Hospital in Seville with samples of newborns from Western Andalusia (Cádiz, Córdoba, Huelva and Seville) and autonomous city of Ceuta. A total of 435,141 newborns were studied (from the period from April 1st 2009 to December 31st 2019) to rule out congenital hypothyroidism and expanded screening; 378,306 for cystic fibrosis from May 1st 2011 to the same date described above. Finally, sickle cell anemia screening was included, which comprised a total of 55,576 newborns from November 26th, 2018 to the same period as the previous ones. Statistical analysis was performed using IBM SPSS software (version 22, SPSS INC., USA).
Results:
The study revealed a prevalence of 1:1565 newborns for congenital hypothyroidism, 1:1532 newborns for extended screening, 1:6.878 newborns for cystic fibrosis, and a 1:11.115 newborns for sickle cell disease.
Conclusions:
The neonatal screening program allows a large number of newborns to benefit from the early detection of certain serious congenital diseases. This aim improves the morbidity and mortality of those who suffer from them.
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