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Screening for the latter is not yet universal, even in high-income countries, although the lack of universal implementation may reflect factors other than economic considerations.Neonatal hearing screening has been developped in a large number of countries. The rational to build such nationwide programs is robust. The prevalence of hearing impairment of various etiologies is high (1/1,000), diagnosis of hearing impairment in infants is uneasy and is made most of the time after the age of 18 months when treatment is less efficient and, last, appropriate test to screen for hearing impairment are available Otoacoustic Emission and Auditory Evoked Potential. In France the screening is organised at the regional level. The organization of such a program is complexe. Midwifes and nurses should be trained to informed the parents and to perform the test. If the test is abnormal the infant will be oriented to a specialzed department of pediatrics for appropriate diagnosis and treatment.Inborn Errors of Metabolism (IEM) are rare and heterogenous disorders. For most IEMs, clinical signs are non-specific or belated. Late diagnosis is frequent, leading to death or severe sequelae. Some IEM induce intermediate metabolites circulating in the blood. They may be detected by tandem mass spectrometry. This method allows the simultaneous detection of many IEM in different metabolic pathways. In France, newborn screening (NBS) program for IEM, limited to phenylketonuria for decades, has been recently extended to medium chain acyl-CoA dehydrogenase deficiency. Rationale, methodology and organization of this new NBS program are described. Seven other IEM (maple syrup urine disease, homocystinuria, tyrosinemia type I, glutaric aciduria type I, isovaleric acidemia, long chain hydroxy-acyl-CoA dehydrogenase deficiency, carnitine uptake disorder) should be screened in the next program extension. Efforts are needed to fully understand the predictive value of each abnormal testing at birth, decrease the false positive rate, and develop the adequate management strategies.Congenital Adrenal Hyperplasia (CAH) is a genetic disorder, mostly (95%) due to CYP21A2 mutations. Its incidence in France is 1/15,000 to 1/16,000 births. The screening of newborns in France is effective since 1996, by using a 17-hydroxyprogesterone dosage on a dried blood spot. This screening allowed, as in other countries, a decrease in mortality and in morbidity by earlier management of adrenal crisis usually symptomatic from the 2nd week after birth. The French Newborn Screening has for now adopted the two-tier screens on the same dried blood spot, using a fluoroimmunoassay on both screens. This approach provides a high sensitivity, but has also a low positive predictive value. New strategies including the LC-MS/MS method can be considered in the future.Neonatal screening for cystic fibrosis has optimised the prognosis for patients allowing very early multidisciplinary care. Over the past 20 years, screening programmes have undergone major international expansion. The performances of the French neonatal cystic fibrosis screening programme, established in 2002, has met European guideline standards, with positive predictive value of 0.31 (against a minimum of 0.30) and sensitivity value of 0.95 (against a minimum of 0.95). It is also important to highlight the very high percentage of sweat tests performed (95.5%), of mutations identified (96.6%), the 91 ratio of cystic fibrosis cases to cases of inconclusive diagnosis achieved and the effectiveness of the strategy implemented for the detection of false negative cases. A new organisation for cystic fibrosis neonatal screening has now been established in France. It is vital that effectiveness is maintained throughout the process, from newborn maternity care to diagnosis in cystic fibrosis care centres, and that further knowledge is gained through exhaustive data collection and validation.Newborn screening (NBS) for sickle cell disease (SCD) in France has allowed the identification of 9,260 children with SCD since 1989, including 583 in 2019. In mainland France, however, SCD screening is targeted to newborns identified at risk of SCD, i.e born from parents originating from countries with a high SCD prevalence. This screening program, combined to prophylactic measures and a well-organized social and health network in France, has demonstrated considerable efficacy in reducing childhood mortality as well as severe infectious, anemic and neurovascular complications in childhood. SCD NBS has additionally allowed the identification of 180,687 heterozygous (AS) children since 1989. this website The increasing incidence of SCD (1/1,303 new-borns identified in 2019 versus 1/2,089 in 2009) now pleads for universal NBS and strong advocacy regarding SCD, the most frequent disease identified by NBS in France, and a major public health issue.Congenital hypothyroidism (CH) is the leading cause of preventable mental retardation. It is mainly due to thyroid dysgenesis or dyshormonogenesis with normally located gland, and detected at birth in developed countries by systematic neonatal screening. The early treatment of patients with CH has successfully improved the prognosis and management of this disease. An increase in the incidence of congenital hypothyroidism with a normally located gland has been reported worldwide over the last three decades. The etiology of CH with a normally located gland remains elusive and about half of them demonstrate spontaneous resolution of CH within a few months (transient CH). They highlight the need to reevaluate thyroid function during follow-up.Phenylketonuria is the most common inborn error of metabolism and causes irreversible mental retardation if left untreated. Its newborn screening was made possible by the technique of blood collection on filter paper developed by Robert Guthrie. Neonatal PKU screening began in France in the early 1970s. It was initially carried out by a bacteriological method, then by fluorometry, and finally, since 2020, by tandem mass spectrometry. More than 35 million newborns have been screened to date. This resulted in the diagnosis of more than 3,500 children with PKU or mild hyperphenylalaninemia. The management of these children has improved over time, in particular thanks to the techniques of biochemistry and molecular genetics which lead to an accurate diagnosis and the arrival of drug treatment by sapropterin. Thanks to this screening, which allows for early management, the prognosis of PKU has been transformed and, although neurological or behavioral problems may arise, these patients are living normally today.
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