| Autor: |
Peters, M., Appel, I. M., Cnossen, M. H., Breuning-Boers, J. M., Heijboer, H. |
| Přispěvatelé: |
Paediatric Infectious Diseases / Rheumatology / Immunology, Amsterdam institute for Infection and Immunity, General Paediatrics |
| Jazyk: |
Dutch; Flemish |
| Rok vydání: |
2009 |
| Zdroj: |
Nederlands tijdschrift voor geneeskunde, 153(18), 854-857. Bohn Stafleu van Loghum |
| ISSN: |
0028-2162 |
| Popis: |
OBJECTIVE: Evaluation of the results of the first year following the expansion of the Dutch national heel prick screening programme to include sickle cell disease (SCD). DESIGN: Prospective national registration of children with suspected SCD or another type of severe haemoglobinopathy. METHODS: The bloodspots were analysed using a haemoglobin separation method based on high performance liquid chromatography (HPLC). Children with an abnormal heel prick result were supposed to be referred to a paediatric haematologist in 1 of the 8 university hospitals. Confirmation of the diagnosis was made by means of a second HPLC test, a DNA test and an investigation for haemoglobinopathy in the parents. The final diagnosis was compared with the probable diagnosis made during screening. RESULTS: In the first year, 64 children had an abnormal heel prick screening result which indicated a haemoglobinopathy (prevalence: 0.035%). The probable diagnosis was SCD in 41 children, alpha-thalassaemia in 18 children, beta-thalassaemia in 4 children and another form of haemoglobinopathy (HbEE) in 1 child. The probable diagnosis was confirmed in all of the children. CONCLUSION: The first year of the Dutch neonatal screening programme for SCD was successful, considering that the number of children in whom a diagnosis was made was in line with that expected. The positive predictive value of the heel prick result was thus 100%. It is too early to comment on possible false negative test results |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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