Newborn screening for Congenital Diseases

 

September is NewbornScreening Awareness month. The urge of the campaign is to make the Newborn screening mandatory in India .Not many parents are aware of this initiative and importance of newborn screening. 

 

 

Newborn screening

 

 

 

What is Newborn Screening?

Newborn Screening or NBS is a simple screening test done for a newborn within the first 72 hours of child’s birth. Newborn screening test targets earliest possible recognition of congenital metabolic disorders which can be not just harmful and potentially fatal.

 

New Born Screening is a preventive pediatric screening service provided to all newly born children to assess the possibility of genetic disorders in the area of “Inborn Errors of Metabolism”. These errors or disorders could lead to permanent neurological, cognitive, tactile and physical damage in the child, however if detected early enough can be easily treated. The treatment and care is lifelong.  

 

 

 

 

What are Congenital Diseases?

Congenital disorders or diseases, also known as birth defects or birth anomalies are conditions present at the time of birth. According to studies, congenital defects result in hundreds of thousands of deaths yearly. The biggest cause of death is congenital heart disease, followed by neural tube disease. Many congenital diseases can cause lifelong damage and disability.  

 

An important sub-group of these disorders are those that can be screened and identified at birth and benefit from early intervention / treatment to prevent deterioration and lifelong disability.

 

 

Some of the congenital diseases are as follows: 

 

Congenital hypothyroidism (CH) or cretinism 

Thyroid hormone deficiency present at birth. Babies show mind or no symptoms, hence this condition can go unnoticed without screening. If diagnosed, the treatment starts within first 1-2 weeks of life.

 

Phenylketonuria or PKU

This is a condition in which body is not able to metabolisephenylalanine,one of the amino acids. Untreated PKU can lead to intellectual disability, seizures and other serious issues.

If PKU is diagnosed early enough, an affected newborn can grow with normal brain development by managing and controlling phenylalanine levels through diet, or a combination of diet and medication.

 

 

What is the need for newborn screening for my baby?

In India, an estimated 27 million babies are born every year.Various studies across the world indicate that one in every 2000 babies born has a genetic disorder at birth.In India, population studies carried out by a number of leading national centers indicate the incidence to be higher in the range of 1 for every 1500 births. 

 

In majority of cases, the baby will have no defects, so why should I get my baby screened?

Yes, in most cases, baby will be absolutely fine, but in case a defect is not identified early the chances of treatment may not be as high when diagnosed later as if it is diagnosed at the time of birth and could avoid life threatening problems  

 

Diseases like Congenital hypothyroidism, Congenital adrenal hyperplasia, Glucose 6- phosphate dehydrogenase deficiency, Phenylketonuria, to name a few, are treatable if diagnosed early at birth and the lifelong damage and disability ranging from mental retardation to physical disability can be prevented resulting in an near normal life. 

 

The lack of diagnosis and treatment results in mental stress and financial losses to parents and also to the country, which can be easily avoided. This screening at birthnot only provides individual and family benefits but also the cost savings introduced by the avoidance of long term institutional care or the devastating economic impact for the families affected.

 

 

When to start thinking about NBS?

Newborn screening must be planned and talked about during the pregnancy with the help of gynaecologist and obstetrician.

 

How is newborn screening done?

Your baby will be taken for this test within 72 hours of birth. Baby’s heel will be pricked for a few drops of sample blood to be tested for the various congenital diseases. This does not cause any undue distress to baby. In majority of cases, the results will be negative which means baby has no birth defects. If the results are positive, your baby’s paediatrician will do further investigation and treatment depending upon the results.

 

Cost and affordability?

The costs of new born screening has been a concern, but the tests are being made affordable by Indian companies. Trivitron Healthcare, the largest and most trusted medical technology company of Indian origin and ranked second in the world   which manufactures NBS products based in Finland. Their objective is to make NBS products in India affordable for Indian population thus enabling every newborn to avail screening at birth.

  



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