[Conditions and limitations of healthy carrier screening for the mutation responsible for cystic fibrosis].
Cystic Fibrosis is an autosomal, recessive and lethal disease which affects one newborn in 2500 in most of European countries. The gene has been cloned and most of the deleterious mutations have been identified. This has led to a complete change in attitude to cystic fibrosis from a public health standpoint. Prenatal diagnosis is now available for couples of carriers (each unaffected parent carrying a deleterious mutation) with a 1/4 risk of having an affected newborn. Prenatal diagnosis can be performed through three different but complementary procedures with an overall reliability of 98%. As these couples at risk are identified by a first affected newborn, prenatal diagnosis may only prevent further ones. General screening of carriers would be valuable from a public health standpoint, for it could prevent the first affected newborn and would decrease very much the incidence of the disease. Such carrier screening is theoretically feasible through the direct analysis of identified deleterious mutations of the gene in the DNA of both parents, before any pregnancy. However there are major obstacles to general screening. On the one hand unidentified mutations are still numerous, except in certain populations, so screening is not perfect. On the other hand, the larger the number of tested mutations (and thus the better the efficiency of screening), the more expensive the procedure. New and cheaper screening technologies are therefore required but as yet unavailable. Moreover, due to the genetic variability within human populations, reliable screening can only be performed within certain homogeneous ethnic sub-populations. This limitation may raise ethical and public health questions.
Serre
J L
JL
Université de Versailles, St Quentin en Yvelines.
Feingold
J
J
D003550:Cystic Fibrosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control*; D004252:DNA Mutational Analysis; D005060:Europe / Q000453:epidemiology; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control*; D005787:Gene Frequency; D005808:Genes, Recessive; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011634:Public Health
Conditions et limites du dépistage des porteurs sains d'une mutation responsable de la mucoviscidose.