Category : Genetics
A birth defect, also called a congenital anomaly, is a condition that develops while a baby is growing in the womb. It may affect the structure or function of different parts of the body such as the heart, brain, limbs, or metabolism. Some birth defects are visible at birth, while others may become apparent later in infancy or childhood.
How do birth defects present?
Birth defects can present in different ways. Some babies may have visible physical differences such as cleft lip or limb differences. Others may have internal problems like congenital heart disease. In some children, the first signs may be developmental delay, feeding difficulties, seizures, or metabolic problems that require specialized tests to diagnose.
How big is the problem globally and in India?
According to the World Health Organization, nearly 8 million babies are born each year worldwide with serious birth defects. These conditions contribute significantly to infant illness, disability, and death.
In India, the burden is also considerable because of the large number of births each year. It is estimated that over 1.7 million babies in India are born with birth defects annually, making congenital anomalies an important cause of newborn illness and childhood disability.
What is India doing about it?
India has taken several steps to address this problem. The national program Rashtriya Bal Swasthya Karyakram (RBSK) focuses on early screening of children for birth defects, diseases, deficiencies, and developmental delays. Through this initiative, children are screened from birth and referred for timely treatment and specialist care.
Every year on March 3, the world also observes World Birth Defects Day to increase awareness, promote prevention strategies, and support families affected by congenital conditions.
Effective strategies to manage birth defects
- Early detection through careful newborn examination and screening
- Access to specialized medical and surgical care
- Developmental therapies and rehabilitation services
- Genetic testing when appropriate
- Genetic counselling for families
Effective strategies to prevent birth defects
- Taking folic acid supplementation before and during early pregnancy
- Regular antenatal care and prenatal screening
- Vaccination and prevention of infections during pregnancy
- Avoiding alcohol, tobacco, and harmful medications during pregnancy
- Genetic counselling in families with inherited conditions
What we do at the Department of Medical Genetics
At the Department of Medical Genetics in our institute, we evaluate babies and children with suspected genetic conditions or birth defects. We provide clinical genetic assessment, guidance on appropriate genetic testing, and counselling for families. Early diagnosis helps guide treatment, anticipate medical needs, and inform families about recurrence risks in future pregnancies.
Our department also works closely with paediatricians and other specialists, while actively contributing to teaching, awareness, and research in rare genetic diseases.
Closing Note
Birth defects are more common than many people realize, but many can be prevented, detected early, or managed effectively. Increasing awareness and improving access to early diagnosis and care can make a meaningful difference in the lives of affected children and their families.