Hyderabad: The need for screening of inborn metabolic disorders in newborn babies was highlighted at a symposium in Hyderabad on Saturday. Detection of inborn errors and genetic disorders can bring down mortality and morbidity in newborns. Speakers at a symposium organised by Bio-Rad Laboratories India Private Ltd and Centre for DNA and Fingerprinting Diagnostics (CDFD) said newborn screening should be taken up with as seriousness as the Universal Immunisation Programme.

Newborn screening is basically the practice of testing every newborn for certain harmful or potentially fatal disorders that are not apparent otherwise at birth. Many of these are metabolic disorders, often called as inborn errors of metabolism, which interfere with the body’s use of nutrients to maintain healthy tissues and produce energy. Other disorders that may be detected through screening include problems with hormones, vitamin levels or the blood. In general, metabolic and other inherited disorders can hinder an infant’s normal physical and mental development in a variety of ways. Besides, the parents can pass along the gene for a certain disorder without even knowing that they are the carriers.

As per WHO figures, 140 million children are born every year, of which 5 million die in the first month of their life in the developing countries and 4 million children are born with some congenital anomaly. Thousands of children die of no definable reason, referred to as Sudden Infant Death Syndrome, of which at least 25-30 % babies are expected to have inborn errors of metabolism. Many of these disorders are preventable and treatable, and if detected in time, can help reduce morbidity and mortality substantially. Universal screening for metabolic disorders is mandatory in US, Europe and many other countries across the world.

No comprehensive study has been done in India so far, but it is estimated that one in 2000 newborn suffer from metabolic disorders. With one billion population in the country, 25 million births occur every year. Hence the magnitude of these disorders are expected to be extremely high. Many of the disorders hitherto undiagnosed and believed to be exclusive to the western population have been detected in the Indian population. To add to this, the ethnic diversity of India offers an excellent scope to detect hitherto unreported metabolic disorders.

With a simple blood test in which blood samples are taken by a heel slit of the baby, doctors can tell whether a newborn baby has certain conditions that could eventually cause problems. Even though, these conditions are considered rare and most babies are given a clean chit, early diagnosis and proper treatment can make the difference between lifelong impairment and healthy development.

In India, the first of this kind unique project has been taken up by CDFD, which is being aided by Dr Reddy’s Foundation for Human Development. DNA tests have been done on about 5,000 newborns in four government hospitals to detect genetic disorders and suggest nutritional interventions for some of them.

Dr Radha Rama Devi, Head of Diagnostics Division, CDFD, said the commonly found disorder in India was Congenital Hypothyroidism, which has an incidence of one in 1,850 babies, as per the data available from the current screening programme in Andhra Pradesh. This is a disorder in which affected babies do not have enough of thyroid hormone and therefore develop retarded growth and development. If the disorder can be detected early, a baby can be treated with oral doses of thyroid hormone to permit normal development. Similarly a metabolic disorder like Galactosemia and Congenital Adrenal Hyperplasia can be treated simply by substituting the diet or supplying the deficient hormone.

Other disorders which are common and treatable are biotinidase deficiency, Maple syrup urine disease and Phenylketonuria. Whenever the medical intervention is not possible, the detection of these disorders early in life will be useful in genetic counselling of the affected family which in turn will prevent the recurrence of similar births, according to Dr Rama Devi.

She said some of the disorders would not manifest on day one. Therefore the ideal time for the test was before the baby was 15 days old. Though one out of 900 babies had metabolic disorders, it was better to screen all newborn babies to ensure that they were free from any abnormalities.

Marriages to first cousins and between uncle and niece are common in the country and children born to such couples could get some genetic disorders. In the DNA tests done from blood samples of newborns, metabolic disorders are being detected and the parents alerted on the complications the child could develop later in life. "If some abnormalities are found, we suggest what food the child should be given and what he or she should not be given. The metabolic disorders can be treated with nutritional interventions," Dr Rama Devi said.

Though screening was a cost-intensive exercise, these costs far exceeded the benefits and cost saving realised in reducing the morbidity of the disease. Government support and creating public awareness would go a long in initiating screening programmes all over the country. She emphasised that such a programme should be akin to the immunisation programme that is successfully implemented in the country.

Dr Anil Jalan of Navi Mumbai Institute of Research in Mental and Neurological Handicap, Vashi, Navi Mumbai, said a baby was born every 40 seconds with metabolic disorders. If all the metabolic disorders were taken together, almost 13.5 % of the newborns would be suffering from one abnormality or the other. In fact, there were more than 1,000 metabolic disorders, the names of which even the specialists would not know. Dr Jalan regretted that most of the hospitals did not stock drugs and injections to treat such cases as an emergency. Parents generally spend hundreds of rupees in their search for a drug or injection that costs only a couple of rupees.

Unlike the infectious diseases, which have taken the centrestage in health policy matters, the issue of diseases related to inborn metabolic disorders have not attracted the attention because of the enormisity of the problem in terms of the entire gamut of the diseases which come under this category and also the lack of awareness among the concerned sections who encounter such cases as ell as lack of technical expertise and facilities. In this context, Dr Jalan feels that there should be a national policy to screen the newborns particularly in high risk communities. Most of the parents also consider that the ailment has no cure and, therefore, the patients are not brought to the specialists at an early stage. The people must be educated that the disorders are curable, if detected early, according to Dr Jalan.

He also explained how blood samples are collected on synthetic paper and air dried before sending for testing. After the tests are over the blood samples could be preserved for future investigations. Dr Usha Naik, Professor of Child Psychiatry, Osmania Medical College and HOD, Dept of Child Psychiatry, Nilofer Hospital, talked on managing children with genetic disorders. She said lack of awareness and lack of testing facilities were the main problem in treating such cases. She said patients were brought very late when treatment would become difficult. In such cases, it was possible only to limit the disability. She asked the participant doctors not to screen the patients for untreatable disorders and give false hopes to the parents. They should be given the up-to-date and accurate information, while the investigation costs should be kept at the minimum. Dr Ravi Shanker, Consultant, Neonatology, Nilofer Hospital, talked about the misconceptions that the people have about metabolic disorders. He said all children did not have a family history and the disorders could be treated successfully if the patients were brought early.

From initial screening to precise, confirmatory DNA analysis, Bio-Rad offers a broad range of testing methodologies. Bio-Rad Laboratories is a multinational manufacturer and distributor of life science research products and clinical diagnostics. It is based in Hercules, California, and serves more than 70,000 research and industry customers in 70 countries through a network of more than 30 wholly owned subsidiary offices. As a worldwide leader in genetic disorders testing, diabetes monitoring, AIDS confirmation, special chemistry testing and quality control systems, Bio-Rad serves as a comprehensive resource for the clinical laboratory. It has offices in New Delhi, Hyderabad and other Indian cities.

Reachout's News Bureau
March' 2003

More 'Hyderabad Watch'......