Advances in vision and eye screening: screening at six months of age

Eye and vision screening is a prototype preventative health measure. Increased knowledge of eye diseases in children and their treatment mandates much earlier screening than was recommended in the past. Advances in testing permit both the adoption of simpler and faster routine techniques and the application of more sophisticated and accurate screening methods. A thorough vision/eye screening at 6 months of age has been added to the previous examination schedule which only required screening at birth and again at 3.5-4 years of age. The simple scrutiny of the red fundus reflexes in the pupil with a direct ophthalmoscope (Brückner test) provides superior screening for vision, binocular alignment and pathology in infants. The difficult-to-master cover test and its variants can be abandoned for screening purposes. In screening preverbal children, simple optotype charts (HOTV) are proving more efficient than the traditional 'tumbling E' game. Color vision testing should be added to the preschool examination. Vision screening in infants can be enhanced where resources permit by using new preferential looking tests and by employing sophisticated electrophysiological testing. Photographic screening methods based on the red reflex hold considerable promise for more efficient screening of children.     

Biochemical screening and mental retardation

Biochemical screening for metabolic defects carried out among the mentally retarded at the National Institute of Mental Health and Neuro Sciences, led to the detection of 66 cases with metabolic defects which included cases of Phenylketonuria; Homocystinuria; Histidinemia; Hartnup’s disease; Hurler’s syndrome; Hunter’s syndrome; Hydroxyprolinemia; Tay-Sach’s disease; Kinky hair disease and Lesh-Nyhan syndrome. Preliminary studies made on biochemical screening of the new born are reported.     

Neonatal screening

Neonatal screening (NS) is a medical act in the context of preventive medicine aimed at the early identification of infants affected by certain conditions that threaten their life and long-term health, for which a timely intervention can lead to a significant reduction of morbidity, mortality and associated disabilities. It emerged three decades ago in the context of prevention of mental retardation. Since then, around 600 inborn metabolic disorders have been described and technological progress has been impressive; nevertheless only around 5% of the disorders have been the object of NS. The most frequently cited reasons for the limitation are low prevalence and the lack of treatment. The tandem mass spectrometry has come in place in recent years across the globe, expanding NS to include several disorders of intermediary metabolism. This has shown, in addition to a prevalence much higher than previously thought, the benefits of early detection. The present work is a review of NS, not only from the point of view of technological/medical achievements, but also considering other factors which will affect specific disease selection, according to the social and organizational infrastructure that may expand the borders of NS.     

Legal and ethical issues of newborn screening

Newborn screening raises many ethical and legal concerns, from the bioethics issues commonly faced with genetic testing and the practice of informed consent to the classical medical ethics questions that surround resource allocation. This mandatory, state-based healthcare intervention has not met with the resistance that one might have anticipated, yet it is still not integrated into society to its full potential. While there is room for newborn screening programs to improve on the technical, ethical, and legal fronts, this should not discourage policymakers, physicians, scientists, and other stak-holders from learning from the successful aspects of its implementation and applying these lessons to other, related technologies.     

Japanese experience of screening

In Sapporo City, the mass-screening for neuroblastoma concerning the urine of infants at about 6 months of age, started in 1981. After 1984, the quantitative determination of VMA, HVA in the urine was carried out using high performance liquid chromatography from the first step. About 104,000 babies have received the screening during the last 7 years, and 19 patients were found (incidence of detection 1:5,500). Except for one, who died of the duodenal perforation shortly after the surgery, all other patients are surviving free from disease. Among 10,000 neonates, we determined urinary concentration of VMA, HVA, and no positive cases were found. However, from this group, 2 patients we detected by the mass-screening at 6 months of age (1:5,000). After the start of mass-screening, the number of the patients with this tumor in much earlier stages and younger ages increased, clarifying that the main cause for improvement of the survival rates of neuroblastoma in Sapporo.