Prenatal screening of Cystic Fibrosis: a single centre exeperience

Bizzocco, Domenico and Mesoraca, Alvaro and Cima, Antonella and Sarti, Monica and Di Giacomo, Gianluca and Scerra, Giovanna and Barone, Maria Antonietta and Di Natale, Manuela and Gabrielli, Ivan and Tamburrino, Caterina and Scargiali, Claudia and Ernandez, Cristina and D'Aleo, Maria Pia and Todini, Michele and Pompili, Rita and Mobili, Luisa and Mangiafico, Lucia and Carcioppolo, Ornella and Aiello, Maria Elena and Coco, Claudio and Cignini, Pietro and D'Emidio, Laura and Girgenti, Alessandra and Brizzi, Cristiana and Cavaliere, Alessandro and Giorlandino, Claudio (2008) Prenatal screening of Cystic Fibrosis: a single centre exeperience. Journal of prenatal medicine, 2 (1). pp. 6-10. ISSN 1971-3290

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The gene responsible for the pathogenesis of cystic fibrosis has been known for over 15 years (1, 2). Cystic fibrosis is the most common autosomal recessive disease in the european population (3). More that 1500 mutations and a large number of polymorphisms have been identified so far from 1989. In the past 10 years we examined in our centre 25393 fetuses. The exams brought to the identification 0f 922 heterozygous and 9 homozygous for the mutation. The frequency of heterozygous in the examined sample was 1/27,5 while that of the affected was 1/2821. We carried out the examination of the most frequent mutations which enable, according to the literature data, the identification of almost 80% of the affected alleles (4-8).

Item Type: Article
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 618 Altri rami della medicina; Ginecologia e ostetricia, Pediatria, Geriatria > 618.2 Ostetricia
Depositing User: Gianni Aiello
Date Deposited: 10 Feb 2014 16:35
Last Modified: 13 Jan 2015 10:35

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