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  1. PCR-based screening for cystic fibrosis carrier mutations in an ethnically diverse pregnant population.

    Article - En anglais

    As the most common lethal autosomal recessive disorder in North America, cystic fibrosis (CF) is an obvious candidate for general population carrier screening.

    Although the identification of the causative gene has made detection of asymptomatic carriers possible, the extreme heterogeneity of its mutations has limited the sensitivity of the available DNA screening tests and has called into question their utility when they are applied to patients with no family history of the disease.

    The purpose of this study was to determine the technical feasibility, patient acceptance and understanding, and psychosocial impact of large-scale CF carrier screening in an ethnically diverse pregnant population.

    A total of 4,739 pregnant women attending prenatal clinics located in both an academic medical center and a large HMO were invited in person to participate.

    Of this group, 3,543 received CF instruction and assessments of knowledge and mood, and 3,192 underwent DNA testing for the six most common CF mutations, by means of a noninvasive PCR-based reverse-dot-blot method.

    Overall participation rates (ranging from 53% at the HMO to 77% at the academic center) and consent rates for DNA testing after CF instruction (>98%) exceeded those of most other American studies.

    The PCR-based screening method worked efficiently on large numbers of samples, and 55 carriers and one at-risk couple were identified. (...)

    Mots-clés Pascal : Mucoviscidose, Dépistage, Diagnostic, Gestation, Prénatal, Réaction chaîne polymérase, Hétérozygotie, Porteur, Frottis, Cavité buccale, Ethnie, Coping, Attitude, Adulte, Homme, Femelle, Etude statistique, Appareil respiratoire pathologie, Appareil digestif pathologie, Pancréas pathologie, Maladie héréditaire, Métabolisme pathologie, Génétique

    Mots-clés Pascal anglais : Cystic fibrosis, Medical screening, Diagnosis, Pregnancy, Prenatal, Polymerase chain reaction, Heterozygozity, Carrier, Smear, Oral cavity, Ethnic group, Coping, Attitude, Adult, Human, Female, Statistical study, Respiratory disease, Digestive diseases, Pancreatic disease, Genetic disease, Metabolic diseases, Genetics

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 97-0267604

    Code Inist : 002B11D. Création : 15/07/1997.