title: [Neonatal screening for phenylketonuria and hypothyroidism in France. A 12-year experience].
abstract: The authors report their experience in the systematic, co-ordinated and controlled neonatal screening in France: a coverage of approximately 100 per cent for several years, nearly 13 millions of tests for phenylketonuria and more than 7 millions for hypothyroidism, almost 850 phenylketonuric children and more than 1,600 patients with hypothyroidism, screened and taken care of. The frequency of phenylketonuria is estimated at 1 for 16,394 and the frequency of hypothyroidism at 1 for 4,041. They insist on the need for a strict investigation of false negatives and point out a few specific points on the care of affected children. Overall, the assessment of neonatal screening is positive since it has allowed 2,500 children, doomed to mental retardation, to have a normal growth.
authors.affiliation: Clinique de Génétique Médicale, Hôpital des Enfants Malades, Paris.
authors.forename: M L
authors.initials: ML
authors.lastname: Briard
mesh_terms: D000755:Anemia, Sickle Cell / Q000453:epidemiology / Q000517:prevention & control; D005188:False Negative Reactions; D005260:Female; D005602:France; D006172:Guyana; D006801:Humans; D007037:Hypothyroidism / Q000453:epidemiology / Q000517:prevention & control* / Q000628:therapy; D007231:Infant, Newborn; D008297:Male; D008395:Martinique; D008403:Mass Screening; D010661:Phenylketonurias / Q000453:epidemiology / Q000517:prevention & control* / Q000628:therapy; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014900:West Indies
vernacular_title: Le dépistage néonatal de la phénylcétonurie et de l'hypothyroïdie en France. Une expérience de 12 années.