Maternal & Child Health

Improving mother and infant health


Child Health

Maternal Health

Genetic Anomalies




VC Curators

Status Report


Addressing Congenital Anomalies in Indian Infants

Significant reduction in infant and childhood mortality rates due to focused primary health care approach has resulted in shift in focus on birth defects related mortality in this age group. Birth defects represent a group of childhood conditions where children are born with a physical or mental disability, or with a chronic medical condition like the hemoglobinopathies, bleeding disorders or muscular dystrophies.

The March of Dimes Report (2006) identifies for the first time the severe, and previously hidden, toll of birth defects, highlighting the extent of this serious and vastly unappreciated public health problem. This report has estimated that India has a birth defects prevalence of 64.3% per 1000 live births. Globally, birth defects affect 2 to 3% of births. With 27 million births in 2010, 500000 to 800000 pregnancies may have been affected annually in India each year. Global estimates suggest that neonatal mortality due to congenital anomalies is 3.2 per 1000 live births in India, accounting for at least 72000 neonatal deaths each year (WHO, 2013).

The United Nations Millennium Development Goals (MDGs) for 2015, set in 2000, included reducing child mortality by two-thirds from 1990 levels. India with a child mortality rate of 61/1000 is far off from the targeted 39/1000 live births (UNICEF, 2012)

Some facts about the burden of birth defects in India:

Estimated frequency of birth defects and genetic disorders in India

DisorderIncidenceBirths / year
Congenital malformation1:50678000
Down Syndrome1:80034000
Metabolic disorders1:120022477
Β-thalassaemia and sickle cell disease1:247710900
Duchenne muscular dystrophy1:5000
Spinal muscular atrophy1:100002700

(Ref: Verma and Kumar, 2012)

Priorities for interventions:

  1. Development of affordable and easy-to-use diagnostics for identifying birth defects in the prenatal and neonatal stages to ensure early diagnosis.
  2. Development of non-Invasive and/or least Invasive technologies
  3. Affordable and Point of care screening tests/products for newborns for detecting prevalent disorders
  4. Innovate pre-conception and prenatal diagnostic techniques
  5. Innovative technologies / products for newborn care
  6. Improving the specifications of monitoring and life-support systems to suit Indian requirements
  7. Innovate child health services to care for infants with birth defects.
  8. Conducting research on unknown causes of congenital anomalies and still births


  1. Christianson A, Howson CP and Modell B. March of Dimes global report on birth defects. March of Dimes foundation, New York, 2006.
  2. Birth defects in South-East Asia, a public health challenge: Situation analysis, WHO, 2013.
  3. United Nations Children’s Fund. State of the world’s children 2012: children in an urban world. New York: UNICEF, 2012
  4. Verma IC, Kumar D. Epidemiology of genetic diseases in the Indian subcontinent. In: Kumar D, editor. Genomics and health in the developing world. Oxford University Press. 2012. Pp 923-92.