For a brighter tomorrow

Neonatal screening is a concept that is least heard about, but it can save a person and the family from all hassles that come with the detection of a fatal condition later on in life

When a child is born, the family goes through immense joy. A lot of care is given to the child as he/she grows up, in order to ensure that he/she has a comfortable life. Everything goes on well until a diagnosis of a disease or condition, which causes much tension.

However, technology comes to one’s aid to ensure permanent and chronic problems do not arise later on in life if detected earlier on, through ‘Neonatal Screening’. Out of an estimated 27 million babies born every year, studies indicate that one in every 2,000 babies born have a genetic disorder at birth.

Diseases such as congenital hypothyroidism, congenital adrenal hyperplasia, Glucose 6-phosphate dehydrogenase deficiency, Phenylketonuria, are some that can be detected and treated soon after birth. Nitin Sawant, Senior Vice-President, Trivitron Healthcare throws ample light on the subject.

Excerpts

What is neonatal screening?

Neonatal screening is a preventive pediatric service provided to newborn babies.

Share the benefits the screening.

Early detection of neonates with preventable genetic disorders through screening at birth will facilitate prevention of disability and mortality by early intervention, treatment and counselling. Finding these conditions soon after birth can help prevent some serious problems, such as brain damage, organ damage, and even death. Thus, the main aim is to detect disease with an acceptable cost-benefit ratio and to avoid false positive results.

What kind of technology is used?

We are using two different technologies - Immunoassay based Detection Technology and Tandem Mass Spectrometry Technology.

Which disorder is found to be the most common in newborns in India (prevalence)?

The incidence of particular diseases in India is region specific. However, overall scenario shows that Congenital Hypothyroidism is at the top of the list (with ratio of 1:1500 people) and Congenital Adrenal Hyperplasia (1: 2200).

What kind of care needs to be taken after the tests?

Incase the child tests positive then, proper consultation with neonatologists/pediatricians is the first step. Next, admission to the neonatal intensive care unit is important, along with medication and preventive measures. Parents also need to be treated with greater cooperation and better coordination between associated departments and staff. For example, parental counselling prior to sample collection and before positive test results are revealed is important. Parents also should ideally be made to participate in the screening programs for the benefit of their child.

What should a parent know before going for the tests?

Some of the major reasons for missing samples or delayed diagnosis are – early discharge of the neonates, where parents do not discuss with neonatologist/pediatricians before getting discharged from hospital. Another reason is very poor recall test as midwives or nurses are unable to contact parents at a given frame of time. So, parents have to be very prompt in following up.

Share about the availability and affordability of the service.

The high cost of testing is a major concern. Our company Trivitron, which is an Indian company, brings down the cost. Currently the new born screening tests are being done only in very few private labs and the parents pay between Rs 2,000 to Rs 10,000.

EE