Federica Mescolo, Ilaria Pirrone, Vincenzo Antona, Simona La Placa, Ettore Piro, Ingrid Anne Mandy Schierz, Giovanni Gaglio, Giovanni Corsello, Mario Giuffrè
The impact of genetic diseases on the pediatric population in clinical practice is remarkable and their prevalence has rapidly increased in the last 50 years. A wide diffusion of modern diagnostic techniques has implemented early diagnosis and consequently the precocious start of effective support therapies which have determined an increased survival rate and quality of life. The percentage of genetics anomalies in children hospitalized is really high and amounts to at least 50% of hospital pediatric admissions. Over 5% of stillborn babies, without other known causes, have genetic disorders, and it goes up to 50% in the case of visible malformations.