6 April 2016

National Quality Registry for Congenital Metabolic Diseases

  • Registry Manager: Östergötland County Council
  • Registry Centre - affiliation: Registry Centre South East, RCSO
  • Start year: 2012
  • Classifications used:
  • This registry contains data on: Pharmaceuticals, Diagnoses, Interventions, Inpatient Care, PROM or other patient-reported health effects, Follow-up Data 3-5 months after the case is registered in the registry, Follow-up Data 6-11 months after the case is registered in the registry, Follow-up Data 12 months or later after the case is registered in the registry

Description of registry

All newborn infants in Sweden have been given a PKU test since the mid-1960s. The aim is to find children with any of a number of rare but serious congenital diseases that can be treated, but in which an early diagnosis is important for the prognosis. Among the roughly 100,000 children born every year in Sweden, between 70 and 80 will have one of the 24 diseases included in the screening (www.karolinska.se/PKU).

The quality registry is a key factor in the evaluation of the neonatal screening process. No such registry has previously existed in Sweden. Moreover, there are national care programmes for only a few of the diseases we screen for. A quality registry thus presents considerable potential benefits, for both the patient and the world.

The overall aim is to give the patients an opportunity for better health and quality of life. This is achieved by providing a system for comparisons between different treatment strategies in order to develop better and more uniform care programmes.

Population

The diseases included in the neonatal screening have a total incidence of about 70-80 children per year in Sweden (of roughly 100,000 children born). Of these, just under half will be included in the first stage, as we will begin with the diseases that are handled through the Metabolic Treatment Centres.

Because the diseases are chronic, there are currently diagnosed patients aged 0-46 (since the start of screening for phenylketonuria, PKU, in 1965), and these patients should also be followed up in the registry. We will first register prospectively, then retrospectively from the increased screening that began on 15 November 2010, and then retrospectively all cases since the start of screening in 1965. Ideally, all care contacts will be registered; the metabolic treatment centres will have a major role in this.

Ages in the registry

All ages, mostly children at first.

Note: Variable lists are updated on a regular basis and should therefore be seen as preliminary. For the latest version, please contact the registry.

Category: Paediatrics, obstetrics and gynaecology

Certification level: 3

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