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Newborn screening – Revolution in the diagnosis of genetic diseases



The birth of a newborn baby brings happiness and smiles to parents. Most babies are born healthy, while some babies are born with serious but treatable medical conditions if diagnosed early.

Many children inherit genetic diseases from their parents, which makes them susceptible to developing this disease later in life. Certain disorders can affect newborns and these are not apparent when the baby is born, and these disorders can potentially interfere with the child’s neurological, cognitive and physical growth.

Early diagnosis, treatment, and management along with newborn screening can help save the newborn. Therefore, newborn screening is a preventive pediatric screening service provided to all newborns to assess the possibility of genetic disorders in the area of ​​”inborn errors of metabolism”.

Globally, newborn screening is mandatory in all developed countries like the United States, Europe, Japan and Russia because the government offers the program for free as part of its health initiative. Among developing countries, newborn screening is quite advanced in China with four mandatory screening parameters fully supported by the government. In India, out of about 2.7 crore of new births in India, an estimated 16 lakh babies are born with birth defects, including 6.2 lakh babies diagnosed with genetic defects.

Benefits of newborn screening:

• A child born with innate errors can be detected early on.
• Helps detect life-threatening or disabling conditions in newborns.
• Screening allows medical experts to identify and treat certain conditions before they make a baby sick.
• Most babies diagnosed with illnesses at birth can be treated early, which helps them grow up healthy and develop normally.
• Improvement of the newborn’s physical health, IQ as well as the quality of life of the whole family
• Allow the prevention of the birth of other affected children which reduce parental anxiety
• Parents can save huge costs not only on special education of their diagnosed children, but also on expensive medical treatments and additional health services.

Heel stick test for newborn screening:

1. This is a simple and safe test in which qualified medical experts will use filter paper to collect the baby’s blood sample.
2. In the Heel stick test, the baby’s heel is pricked to collect a small sample of blood.
3. Parents can hold their baby during the test.
4. The drops of blood are placed on a filter paper card to create spots of dried blood.
5. The newborn screening card is then sent for analysis.

When does the screen appear?

• The heel blood test is done when a baby is 1 to 2 days old.
• Timing is very important because so some conditions may go undetected if the blood sample is taken before 24 hours after birth.
• Blood collection after 48 hours may delay detection of life-threatening conditions.
• The filter paper card from which the sample is taken should be stored in sterile conditions to avoid interference with the blood drop analysis and results.

Disease diagnosed with newborn screening:

• Homocystinuria
• Congenital adrenal hyperplasia
• Congenital hypothyroidism
• Phenylketonuria
• Congenital hypothyroidism
• Galactosemia
• Cystic fibrosis (CF)

Government initiatives:

Today, newborn screening is an affordable preventive public health initiative. Every year, around 27 million children are born in our country. Hearing problems and congenital heart defects are estimated to affect around 4: 1000 and 5: 1000 people, respectively, while EMP is estimated to affect around 1: 1000 people in India. Many children acquire mental retardation, learning disabilities, autism, dyslexia, behavioral abnormalities, and academic delay later in life if they are not detected and treated. There is also significant financial and emotional pressure on parents to detect, treat and manage these children.

The central government has included newborn screening in programs such as the “RashtriyaBalSwasthyaKaryakram (RBSK)”, which is managed by the ministries of health and of women and children. According to the WHO, the importance of the NBS is equivalent to that of immunization programs since it covers a wide range of diseases that may affect the health of the child in the future.

The government and private institutions must collaborate and create avenues to educate the general public and new parents about new advanced technology for newborn screening.

Over the past decade, India has evolved and improved in implementing newborn screening in public hospitals to test for metabolic and genetic diseases. This was made possible by the measures and initiatives undertaken by the government. Going forward, the government should make it a constitutional duty not only to dramatically reduce infant mortality rates, but also to ensure a safer and healthier future.

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