Congenital Malformation

Congenital anomalies (birth defects) can be defined as structural or functional anomalies (e.g. metabolic disorders) that occur during intrauterine life and can be identified prenatally, at birth or later in life. Congenital anomalies are also known as birth defects, congenital disorders or congenital malformations. Congenital anomalies are the major cause of new born deaths within four weeks of birth and can result in long-term disability with a significant impact on individuals, families, societies and health-care systems.

In nearly 50% of cases the exact cause of congenital anomaly could not be identified, although there are some known risk factors which can be linked with the causation of malformation. Congenital anomalies can be caused by single gene defects, chromosomal disorders, multifactorial inheritance, environmental teratogens (an agent, which can cause a birth defect) and micronutrient deficiencies.

According to the World Health Organization (WHO) in 2010, an estimated 270 000 deaths during the first 28 days of life were reported due to congenital anomalies globally. According to March of Dimes (MOD) global report on birth defects 7.9 million births (6% of total births) occur annually worldwide with serious birth defects and 94% of these births occur in the middle and low income countries. According to joint WHO and MOD meeting report, birth defects account for 7% of all neonatal mortality and 3.3 million under five deaths.

The prevalence of birth defects in India is 6-7% which translates to around 1.7 million birth defects annually. The common birth defects include congenital heart disease (8-10 per 1000 live births), congenital deafness (5.6-10 per 1000 live births), and neural tube defects (4-11.4 per 1000 live births) (March of Dimes report, 2006).

Some birth defects are clinically apparent at birth; others may only be diagnosed later in life. The structural defect such as spina bifida is obvious at birth whereas haemophilia a functional defect (a bleeding disorder) is not usually obvious until infancy or childhood.

The Ministry of Health and Family Welfare, Government of India has addressed the problem with the implementation of various national health programmes. In 2013, National Child Health Screening and Early Intervention Services covered 30 health conditions of the children aged 0-18 years through various approaches.

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