TY  - JOUR
AU  - Poulou, Myrto
AU  - Tzetis, Maria
PY  - 2017
DA  - 2017/11/01
TI  - Carrier Screening for Cystic Fibrosis: Past, Present and Future
JO  - OBM Genetics
SP  - 010
VL  - 01
IS  - 04
AB  - Cystic Fibrosis (CF) is one of the commonest autosomal recessive genetic diseases that show a high carrier frequency amongst Caucasian populations. Although there has been tremendous progress in the available therapies, compared to the past, the disease is still associated with significant morbidity and mortality. Because of the severe clinical manifestations and the shortened life expectancy of patients, population based carrier screening, to identify heterozygous carrier couples at risk of having affected children, has been recommended. We review the history of population based carrier screening for CF, focusing on the screening guidelines, the current requirements and the difficulties of implementation, considering especially the heterogeneity of CF-causing mutations.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.1704010
DO  - 10.21926/obm.genet.1704010
ID  - Poulou2017
ER  -