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Prenatal diagnosis in severe cases: a new gain in Portuguese neonatal

Introduction The expansion of the Portuguese neonatal screening since 2004, based on MS/MS technology, allows the tracing of 25 diseases in all Portuguese newborns in one single laboratory. Following this expansion, the molecular study was also implemented for most diseases, thus allowing confirmation and prenatal diagnosis in severe cases. Methods Five prenatal diagnoses were made in pregnant women who had chi...