screening infants

Born well, now be well

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Your Health - Dr. Gita Mathai

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The infant (and under-five) mortality rate in India has seen an impressive decline, from about 80 per 1,000 live births in 1991 to 35 in 2016. The main contributors to this decline are West Bengal, Tamil Nadu, Kerala, Punjab and Himachal Pradesh. These are also the states that have enthusiastically adopted the small family norm. This enables parents to avail good antenatal care, safe delivery and immunisations to prevent death from common childhood infections.

Now, it is time to worry about other diseases that affect the mortality and quality of life of these children. These are mainly haemoglobinopathies (haemoglobin disorders), bleeding disorders, inborn errors of metabolism, endocrinopathies, and congenital deafness. Many of these diseases are inherited. One or more parents may carry the gene, which may not be expressed in the parent. Relatives may be affected, or else have mild forms of the disease. In some cases, it is a sporadic mutation and the child is the only one exhibiting the problem.

Congenital hearing loss can be tested by the newborn hearing screening test (NBST). Though seven per cent of newborns have hearing loss, this test is usually not done. When the child is three months to a year old, parents realise that he or she does not respond to sounds. The impact of hearing loss is less if it is treated before the child starts to speak.

Sometimes children are born with ambiguous external genitalia but they may not be brought for treatment till they are older. It is usually due to congenital adrenal hyperplasia (CAH). If the disease is severe then other symptoms such as diarrhoea, vomiting, dehydration, low blood sugar levels and shock can produce a life-threatening medical emergency.

There are other defects for which children are screened at birth in developed countries. These require collecting blood on a filter paper from a heel prick, amniotic fluid, buccal smear, skin or hair, within 24-48 hours of birth. The disorders that can be detected are phenylkentonuria (PKU), congenital hypothyroidism, haemoglobin disorders such as sickle cell disease, the thalassaemia group of diseases, galactosaemia, tyrosinaemia and other biochemical diseases, cystic fibrosis and so on. The cost of the test varies from Rs 2,500 to Rs 10,000, depending on the number of diseases screened for. That depends on prevalence in that area, family history, marriages between close blood relatives and medical advice.

Congenital hypothyroidism requires immediate treatment with medication so that the child may have normal physical and mental development. PKU, tyrosinaemia and galactosaemia need immediate alterations in the diet to prevent brain, eye, heart and kidney damage. Haemoglobin disorders require constant monitoring, transfusions, and specialised management.

Newborn screening and early intervention can vastly improve the quality of life as well as development of children. Make sure you get the relevant tests done as early as possible. After all, it is always better to know the enemy you are fighting.