Newborn Screening: The Critical Importance

Editorial

Indian Pediatr 2014;51: 698-699

	Newborn Screening: The Critical Importance Biochemist’s Perspective
Manjit Kaur From the Department of Genetics, National Reference Laboratory, Dr Lal Path Labs, Rohini, Delhi, India. Email: [email protected]
Newborn screening (NBS) is a public health program designed and developed to screen infants shortly after birth. The principle of NBS Program is to detect potentially harmful disorders that are not clinically evident at birth. Newborn screening is a success story in USA [1,2] and European countries [3] despite different approaches to timing of screening, follow-up testing and intervention [4]. In India, the concept of NBS is in the nascent stages, and as of now is more focused on detecting congenital hypothyroidism, congenital adrenal hyperlplasia, galactosemia, Glucose-6-phosphate dehydrogenase deficiency, biotinidase deficiency and cystic fibrosis. Screening for inborn errors of metabolism, including aminoacidopathies, organic acidemias and fatty acid oxidation disorders are yet to pick up as the costs involved are daunting [5]. False positive alarms and recall rates of a NBS program depend on methodology used and quality of diagnostic services. For example, as a good quality practice, sample storage and test performance should be carried out at same temperature throughout the year. ‘Screening window’, defined as the period between the development of the abnormal test result of NBS and development of symptoms in the infant, may vary from disorder to disorder. It will be most ideal to collect sample on fourth day of life. Samples can be collected from home by trained nurse/phlebotomist. There are many riders associated with interpretation of blood samples collected in the first few days of life; often a repeat testing may be warranted. This not only increases the costs but can also lead to false alarm and cause panic in parents and families. However, defining age-appropriate cut-offs – as in the study in this issue of Indian Pediatrics [6] – may circumvent the problem of loss to follow-up. It is important to define criteria for permanent and transient hypothyroidism and exclude cases of transient hypothyroidism [7]. Workshops and pilot studies are required for standardization of diagnostic criteria for congenital hypothyroidism. Screening and surveillance should go hand in hand. Newborn screening model should comprise screening, follow-up, diagnosis, management, and education. Teaching guide for parents should be made available as public awareness of these disorders is very poor in India. Success of any newborn screening program depends on coordination of efforts of many stakeholders. Funding: None; Competing interests: MK is working as consultant and Head of Department of Genetics at National Reference Lab, Dr Lal Path Labs which performs tests for neonatal screening commercially. References 1. Therrell BL, Adams J. Newborn screening in North America. J Inherit Metab Dis. 2007:30:447-65. 2. Lloyd-Puryear MA, Tonniges T, van Dyck PC, Mann MY, Brin A, Johnson K, et al. American Academy of Pediatrics Newborn Screening Task Force recommendations: How far have we come? Pediatrics. 2006;117(5 Pt 2):S194-211. 3. Loeber GJ. Neonatal screening in Europe; the situation in 2004. J Inherit Metab Dis. 2007;30:430-8. 4. Olney RS, Grosse SD, Vogt RF. Prevalence of congenital hypothyroidism – Current trends and future directions: Workshop Summary. Pediatrics. 2010;125(suppl):S31-6. 5. Kapoor S, Gupta N, Kabra M. National newborn screening program still a hype or a hope now? Indian Pediatr. 2013;50:639-43. 6. Gopalakrishnan V, Joshi K, Phadke S, Dabadghao P, Agarwal M, Das V, et al. Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. Indian Pediatr. 2014;51:701-5. 7. Shapira SK, Lloyd-Puryear MA, Boyle C. Future research directions to identify causes of the increasing incidence rate of congenital hypothyroidism in the United States. Pediatrics. 2010;125(Suppl2):S64-8.