Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2008 Jan;2(1):6-10.

Prenatal screening of Cystic Fibrosis: a single centre experience

Domenico Bizzoco  1 , Alvaro Mesoraca, Antonella Cima, Monica Sarti, Gianluca Di Giacomo, Giovanna Scerra, Maria Antonietta Barone, Manuela Di Natale, Ivan Gabrielli, Caterina Tamburino, Claudia Scargiali, Cristina Ernandez, Maria Pia D'Aleo, Michele Todini, Rita Pompili, Luisa Mobili, Lucia Mangiafico, Ornella Carcioppolo, Claudio Coco, Pietro Cignini, Laura D'Emidio, Alessandra Girgenti, Cristiana Brizzi, Alessandro Cavaliere, Claudio Giorlandino
Affiliations

Prenatal screening of Cystic Fibrosis: a single centre experience

Domenico Bizzoco et al. J Prenat Med. 2008 Jan.

Abstract

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.

Keywords: cystic fibrosis; prenatal diagnosis; screening tests.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Distribution of the cystic fibrosis mutations.
See this image and copyright information in PMC

References

    1. Riordan JR, Rommens JM, Kerem BS, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, Drumm ML, Ianuzzi MC, Collins FS, Tsui LC. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245:1066–73. - PubMed
    1. Rommens JM, Ianuzzi MC, Kerem BS, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, Zsiga M, Bukwald M, Riordan JR, Tsui LC, Collin FS. Identification of thecystic fibrosis gene: chromosomewalking and jumping. Science. 1989;245:1059–65. - PubMed
    1. Welsh MJ, Tsui LT, Boat Tf, Beaudet AL. The metabolic and molecular bases of inherited disease (ed. CR Scriver, AL Beaudet, WS Sly & D Valle) New York: Mc graw-Hill Inc. Publ; 1995. Cystic Fibrosis; pp. 3799–3876.
    1. Cystic Fibrosis Genetic Consortium. Cystic Fibrosis Genetic Data Base. URL: http://www.genest.sikkids.on.ca/cftr/
    1. The Cystic Fibrosis Genetic Analysis Consotium. Population variation for common cystic fibrosis mutations. Hum Mutat. 1994;4:167–177. - PubMed

LinkOut - more resources