Chennai: Trivitron Healthcare, a leading medical technology company of Indian origin, has patented and launched NeoMass AAAC Kit, a newborn screening kit that can detect up to 50 disorders that a newborn baby might be born with or without any immediate symptoms or visible manifestations.
The testing process involves pricking the heel of a newborn baby to collect a few drops of blood on a filter paper within 72 hours of birth and test for detection of life threatening disorders, according to a statement by the company.
The NeoMass AAAC kit, which was launched on December 16, uses tandem mass spectrometry technology that allows fast and accurate determination of metabolic disorders. The cost per test is approximately Rs 500 for NeoMass kit, according to a spokesperson of the company.
The methodology makes it possible to detect deficiencies of all the six enzymes involved in the urea cycle metabolic pathway. The urea cycle is a metabolic pathway occurring in the liver and kidney and aberrant functions of the urea cycle enzymes lead to the build-up of ammonia, a product of protein metabolism. If not treated the outcome is very serious with symptoms ranging from vomiting and increasing lethargy to respiratory distress and even coma and death.
NeoMass AAAC also enables an easy and reliable detection of type I tyrosinaemia, a serious disease causing dermatologic and neuro-developmental problems due to accumulation of tyrosine within the liver and kidney.
Dr G S K Velu, chairman and managing director, Trivitron Group, said, “Trivitron Healthcare is one of the largest provider for newborn screening solutions in the world and our new patented NeoMass AAAC kit is the first kit in the world to detect up to 50 disorder.”
Trivitron aims to create awareness among the target audience about newborn screening and its alarming need to make it mandatory in India too like other countries.
According to a spokesperson of the company, “The success of prevention programmes for the control of inborn errors of metabolism in countries like US, Canada, and most of the European countries have shown that education and screening forms the most important part of these programme.
“In the US and Canada, newborn screening is mandatory, with an option for parents to opt out of the screening in writing if they desire. In most of Europe, newborn screening is done with the consent of the parents. Proponents of mandatory screening claim that the test is for the benefit of the child, and that parents should not be able to opt out on their behalf.
“In regions that favour informed consent for the procedure, they report no increase in costs, no decrease in the number of children screened and no cases of included diseases in children who did not undergo screening. Each year, more than 98% of approximately 4 million newborns in the US are screened. Through early identification, newborn screening provides an opportunity for treatment and significant reductions in morbidity and mortality.”
About the Indian scenario, the spokesperson, in an email response, informed India Medical Times, “There are 25 million births in India annually; 8 lakhs are born with congenital malformation; 3.5 lakhs with glucose 6 phosphate deficiency (G6PD); 25,000 with metabolic disorders; 20,000 with Down Syndrome, 15,000 with congenital hypothyroidism, 14,000 with Thalassaemia and 5,000 with sickle cell anaemia.
“The biochemical screening of 4400 cases of mental retardation in India revealed that 5.75% (256 cases) are due to various inherited metabolic disorders. In India, the prevalence of inborn errors of metabolism (IEM) is one in 2497 newborns and in Andhra Pradesh, one in 1,000 newborns. A paper collating a study conducted in four major Government Maternity Hospitals in Hyderabad showed the incidence of the metabolic disorders as follows: Amino Acid 1:3,600; Phenylketonuria 1:18,300; Transient Tyrosinaemia 1:9,000; Hyperglycinaemia 1:18,300; Hyperargininaemia 1:18,300; Congenital Hypothyroidism (CH) 1:1,700; Congenital Adrenal Hyperplasia (CAH) 1:2,600; Galactosaemia (GALT) 1:10,300; G6PD 1:2,200 and the Overall Incidence Rate is 1:540.
“Another paper presented the results of a study done at KEM Hospital in Mumbai from 1978 to 2004 and the estimated incidence for 24 million babies born in India is IEM 1:1300. So, this expanded newborn screening (NBS) is aimed for early detection, intervention, and prevention from treatable inborn errors of metabolism and also to establish incidence of these disorders.”
by Usha Nandini M