Results of pilot screening activities in the French neonatal screening program — cystic fibrosis, congenital adrenal hyperplasia and sickle cell disease
| Autor: | J. Frézal, M.L. Briard, J.L. Dhondt, R. Boschetti, J.P. Farriaux |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
education.field_of_study
Pathology medicine.medical_specialty Pediatrics business.industry Cystic fibrosis screening Population Cell Disease medicine.disease Cystic fibrosis medicine.anatomical_structure Screening - action Pediatrics Perinatology and Child Health medicine False positive paradox Congenital adrenal hyperplasia education business |
| Zdroj: | Screening. 2:87-97 |
| ISSN: | 0925-6164 |
| Popis: | The principle of pilot or evaluative studies has been adopted by the French Association for Neonatal Screening to investigate all the components of a new screening action before it is proposed as an addition to the ongoing program. Such studies have recently been undertaken to evaluate the feasibility of the screening for cystic fibrosis, congenital adrenal hyperplasia and sickle cell disease on a national basis. The conclusions of the respective analyses were: (i) To not recommend cystic fibrosis screening with a ‘two-step’ strategy using the immunoreactive trypsin measurement for both the primary screen and the repeat blood testing, because of the high recall rate (1.9%) and the risk of false negatives (7.4%). (ii) To improve the strategy of congenital adrenal hyperplasia screening before nation-wide screening in order to reduce the number of false positives, especially in premature babies. (iii) To propose screening for sickle cell disease in areas that include a high percentage of the ‘at-risk’ population. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|