Prenatal screening of Cystic Fibrosis a single centre experience

Prenatal screening of Cystic Fibrosis : a single centre experience

OBJECTIVE: 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

Bibliographische Detailangaben
Veröffentlicht in:Journal of prenatal medicine. - 2007. - 2(2008), 1 vom: 30. Jan., Seite 6-10
1. Verfasser: Bizzoco, Domenico (VerfasserIn)
Weitere Verfasser: 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
Format: Aufsatz
Sprache:English
Veröffentlicht: 2008
Zugriff auf das übergeordnete Werk:Journal of prenatal medicine
Schlagworte:Journal Article cystic fibrosis prenatal diagnosis screening tests
Beschreibung
Zusammenfassung:OBJECTIVE: 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
METHODS: 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
RESULT: 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
CONCLUSION: 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
Beschreibung:Date Completed 30.08.2012
Date Revised 21.10.2021
published: Print
Citation Status PubMed-not-MEDLINE
ISSN:1971-3282