Details

Autor(en) / Beteiligte

• Bizzoco, Domenico
• Mesoraca, Alvaro
• Cima, Antonella
• Sarti, Monica
• Di Giacomo, Gianluca
• Scerra, Giovanna
• Barone, Maria Antonietta
• Di Natale, Manuela
• Gabrielli, Ivan
• Tamburino, Caterina
• Scargiali, Claudia
• Ernandez, Cristina
• D'Aleo, Maria Pia
• Todini, Michele
• Pompili, Rita
• Mobili, Luisa
• Mangiafico, Lucia
• Carcioppolo, Ornella
• Coco, Claudio
• Cignini, Pietro
• D'Emidio, Laura
• Girgenti, Alessandra
• Brizzi, Cristiana
• Cavaliere, Alessandro
• Giorlandino, Claudio

Titel

Prenatal screening of Cystic Fibrosis: a single centre experience

Ist Teil von

• Journal of prenatal medicine, 2008-01, Vol.2 (1), p.6-10

Ort / Verlag

Italy: CIC Edizioni Internazionali

Erscheinungsjahr

2008

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• The gene responsible for the pathogenesis of cystic fibrosis has been known for over 15 years and represent the most common autosomal recessive disease in the european population. We aimed to investigate the incidence of this condition during fetal life. In the past 10 years we examined in our centre 25393 fetuses of women underwent to amniocentesis. 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. We identified 922 heterozygous and 9 homozygous for the mutation. The frequency of heterozygousin the examined sample was 1/27,5 while that of the affected was 1/2821. We encourage new thoughts regarding the diagnostic validity of the most frequent panel of mutations among the italian population in order to exclude never encountered mutations and the insertion of other more significant mutations.