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[Screening for hereditary diseases. What other screening?]
J P Farriaux1, J L Dhondt, L Moreno
1Centre Régional Nord-Pas-de-Calais de Dépistage Néonatal, Faculté de Médecine de Lille.
Insights
Neonatal screening for metabolic diseases is complex. Currently, only phenylketonuria and congenital hypothyroidism meet criteria for effective mass screening programs.
Area of Science:
- Medical Genetics
- Neonatal Medicine
- Public Health
Context:
- The success of neonatal screening for phenylketonuria and congenital hypothyroidism prompts consideration of other metabolic diseases.
- Mass screening requires diseases to be treatable, not clinically obvious, requiring prompt therapy to prevent disabilities, with reasonable frequency and easy detection.
Purpose:
- To evaluate the feasibility of expanding neonatal mass screening programs to include other metabolic diseases.
- To discuss the suitability of congenital adrenal hyperplasia, cystic fibrosis, Duchenne muscular dystrophy, and hypercholesterolemia for neonatal screening.
Summary:
- Congenital adrenal hyperplasia requires strategy adjustments for timely results. Cystic fibrosis screening needs assay adaptation and more data on early management efficacy.
- Duchenne muscular dystrophy lacks treatment, offering only genetic counseling. Hypercholesterolemia requires definition of a suitable marker and treatment.
- Pilot programs are evaluating these issues, but consensus remains that only phenylketonuria and hypothyroidism currently meet efficient mass screening criteria.
Impact:
- Highlights the stringent criteria for effective neonatal mass screening programs.
- Identifies challenges and knowledge gaps for expanding newborn screening beyond established conditions.
- Reinforces the importance of treatability and early intervention in public health screening initiatives.
Abstract:
Faced to the success of the neonatal screening for phenylketonuria and congenital hypothyroidism, it was tempting to introduce screening of other metabolic diseases. "Ideal" diseases to be screened are treatable, are not easily recognized by clinical means during the neonatal period, need immediate therapy to prevent irreversible disabilities, have a reasonable frequency and can be detected by and easy test. There is some controversy concerning the list of diseases recommended for mass screening, among them four can be discussed: congenital adrenal hyperplasia, due to 21-hydroxylase deficiency, fulfils most of the criteria, but some changes in the general screening strategy should be made to provide a result as soon as possible, and at least before the 10th day of life; cystic fibrosis, immunoreactive trypsin is a good marker of the disease but its assay needs technical adaptation for mass screening; more information are also required about the efficacy of an early management of the disease; Duchenne muscular dystrophy has a good marker for neonatal screening (creatine kinase), but no treatment exists and the possibility of genetic counselling can only be provided; hypercholesterolaemia is a frequent disease; however, the good marker and the adequate treatment remain to be defined. Pilot programmes, on the behalf of the French Association for Neonatal Screening, are evaluation these problems. However, at the present time, a consensus has been reached that only phenylketonuria and hypothyroidism fulfils criteria for an efficient mass screening programme.