Costometic

As an expectant parent or a paediatrician treating a baby, there are a few preventive steps that can be taken to ensure good health for your little one in the future. Vaccinating the baby being one of them and the other being Newborn Metabolic Screening (NMS). The NMS is a novel method by which one can detect problems (Inborn errors of metabolism) even before signs of the condition become apparent, so that in some cases early treatment can be commenced, leading to normal growth and development of the child. The current form of the NMS, screens the baby for more than 40 different metabolic conditions which if undetected or untreated can lead to severe developmental delay or unexpected death of the infant. The most novel aspect of this screen is all these 40 conditions can be tested for using only 4 drops of blood from the baby’s foot!

The newborn metabolic screen is done to detect babies with a complex group of disorders known as Inborn errors of metabolism (IEM). IEM is a group of genetic conditions that prevents the baby from processing food properly. This leads to an accumulation of toxic chemicals in the blood harmful to the baby’s normal development. If the condition remains undetected and untreated at birth, it can cause mental retardation or death in the baby. It is extremely difficult or next to impossible to pick up clinical signs or symptoms of these conditions in the newborn period and by the time they become apparent to the parents or the treating clinician it is usually too late. IEM screens newborns for about 40 disorders and if tested positive in quite a few instances the line of treatment is inexpensive involving dietary modifications or adding trace vitamins and hormones.

Almost all developed countries across the world have implemented universal newborn screening programs which have been tailor made to suit their needs and budget. Some countries screen babies for 40 different conditions whereas some screen them for 5-6 conditions only, based on local prevalence of these conditions and economic restraints. The Newborn Metabolic Screen is an ideal screening test because it is accurate, easily accepted by parents (only 4 drops of blood from the baby’s heel), can be easily performed by a health worker (does not need a doctor) and most important - diagnoses the condition before onset of clinical signs!

Although it is known as metabolic screen, the same test can also diagnose other conditions such as congenital hypothyroidism, G6PD deficiency, Congenital adrenal hyperplasia and other diseases which are not classified as metabolic conditions but have similar consequences, if not diagnosed and treated early in life. These conditions are much more common than the IEM, for example congenital hypothyroidism alone affects 1 in 1500 babies. The importance of diagnosing this condition as early as possible cannot be stressed, since if this condition is detected at birth, it can be completely treated by thyroxine replacement (inexpensive). If this condition goes undiagnosed after birth, the child is almost always going to have problems with their mental development.

The process of diagnosing all these 40 different conditions can be screened using only a few drops of blood, obtained by pricking the baby’s heel. After the infant’s heel is pricked the drop of blood that forms is placed on a special filter paper and allowed to dry. Once it is dried, it is sent to the lab for testing.

Parents who are healthy or have already had healthy children, don’t expect any problems and they are almost always right. Since these disorders are not very common, the chances are excellent that your child may NOT have one of these disorders. However, the few children who are born with these problems are generally from healthy families. Most babies born with these conditions are healthy at birth and signs of ill health may become apparent only after a few days to few months after birth, depending upon the underlying conditions. By screening every baby after birth, we can be sure that each infant who has a disorder can be identified and started on early treatment. The NMS goes a long way in addressing the basic medical philosophy of prevention is the best available treatment.