Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2735
Título: Preliminary results of the pilot study for Cystic Fibrosis newborn screening in Portugal
Autor: Marcão, Ana
Lopes, Lurdes
Carvalho, Ivone
Sousa, Carmen
Fonseca, Helena
Rocha, Hugo
Barreto, Celeste
Vilarinho, Laura
Palavras-chave: Doenças Genéticas
Fibrose Quística
Data: Out-2014
Resumo: The Portuguese national program for newborn screening started in October 2013 a pilot study for cystic fibrosis. This study will be done in 80,000 Portuguese newborns and will probably last for 1 year long. An IRT/ PAP/ IRT strategy is being used, with 1st IRT and PAP measured in the first newborn screening sample, usually taken between the 3rd and 6th days of life. IRT and PAP cutoff values, in the first sample, are 65 ng/mL and 1.8 ng/mL, respectively. A failsafe procedure was adopted for IRT>100ng/mL (PAP cutoff=0.5ng/mL) and IRT>150ng/mL (immediate request of 2nd sample). Newborns which maintain an elevated IRT in the 2nd sample, usually taken in the 3rd week of life, are sent to a specialized clinical center for sweat test, clinical evaluation and genetic analysis. For the first 52,000 newborns studied, we had a 0.37% recall rate and, after IRT measurement in the 2nd sample, eleven newborns were further evaluated. In two cases, the sweat test and genetic analysis turn out to be negative. Nine patients were confirmed, of which seven were F508del homozygotes. All identified patients have at least one F508del allele, which may indicate that this mutation is more frequent in Portugal than it was previously thought. According with these preliminary results cystic fibrosis may have in Portugal a 1:5,700 approximate frequency.
URI: http://hdl.handle.net/10400.18/2735
Aparece nas colecções:DGH - Posters/abstracts em congressos internacionais

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