Globally almost 8 million children are born with genetic disorders and 90% of them are born in low and mid-income countries, and my country, India is one of them. Genetic disorders are relatively very high in India, it occurs with a prevalence of 50-60 per 1000 births. Genetic defects are the second most cause of infant and childhood mortality. The population of India is almost one-sixth of the world population and India consists of ethnically and genetically diverse populations with thousands of endogamous groups. Perhaps that is the main reason for a maximum number of permutation and combination in between different types of genes, which causes the higher rate of mutation and more abnormalities in the genome including congenital disorders.
There are two types of genes: dominant and recessive and wrong combinations of these genes are liable Autosomal Dominant disorders and Autosomal Recessive Disorders.
Current Situation in India:
Birth defects are mainly defined as functional, structural and metabolic disorders, which are present from birth. In India, there are mainly four disorders found in babies, which are:
1. Down Syndrome: It is a very common abnormality which affects approximately 1 in 1000 newborn babies. It basically shows-development delay, decreased muscle tone and heart defects.
2. Thalassemia: When hemoglobin can not become synthesized by red blood corpuscle in blood. It leads to an anemia and causes fatigue, bone pain, loss of appetite etc.
3. Sickle Cell Anemia: It occurs when red blood corpuscles are unable to carry enough oxygen throughout the human body due to their deformation. It causes extremely abdominal & bone pain and fatigue.
4. Duchenne Muscular dystrophy: Symptoms typically show themselves before the age of
6. It causes fatigue and weakness in muscles. It starts from leg and gradually progresses towards the upper body.
Rather than that there are various reasons like: Turner syndrome, Neural tube defects, Cystic fibrosis, Huntignton's diseases, Duchenne, Thalassemia, Bloom's Syndrome, Noonan Syndrome etc.
Risk Factors For the Occurrence in India:
1. Maternal age: Fertility status of older women (age> 35 years) is directly related to down syndrome. Annual birth of down syndrome babies is almost 35000 in India
2. Health and medical condition of mother: Chronic diseases during pregnancy is another reason of genetic defects in India.
3. Unplanned pregnancies: No antenatal care and unplanned pregnancies are also a reason. According to National Family Health Survey, 23% Indian women are not taking any antenatal care.
4. Nutritional Status of mother: Folic acid, Iodine and other Macro & micro element deficiencies are associated with genetic birth defects.
5. Parent's Genetic carrier Status: carrier frequencies of various types of genetic disorders like Sickle cell Anemia, thalassemia is very common among IndiansStrategies for prevention in India:
According to March of Dimes (MOD) and the World Health Organization (WHO) 70% genetic defects in Babies are preventable. There are Community Genetic Services in India to diagnose, care and prevent genetic diseases. Their goal is to maximize the chances of having healthy babies.
Currently, it is very important to prevent the birth of a child with a genetic defect so that socioeconomic burden can be reduced in India.
There are two types of genes: dominant and recessive and wrong combinations of these genes are liable Autosomal Dominant disorders and Autosomal Recessive Disorders.
Current Situation in India:
Birth defects are mainly defined as functional, structural and metabolic disorders, which are present from birth. In India, there are mainly four disorders found in babies, which are:
1. Down Syndrome: It is a very common abnormality which affects approximately 1 in 1000 newborn babies. It basically shows-development delay, decreased muscle tone and heart defects.
2. Thalassemia: When hemoglobin can not become synthesized by red blood corpuscle in blood. It leads to an anemia and causes fatigue, bone pain, loss of appetite etc.
3. Sickle Cell Anemia: It occurs when red blood corpuscles are unable to carry enough oxygen throughout the human body due to their deformation. It causes extremely abdominal & bone pain and fatigue.
4. Duchenne Muscular dystrophy: Symptoms typically show themselves before the age of
6. It causes fatigue and weakness in muscles. It starts from leg and gradually progresses towards the upper body.
Rather than that there are various reasons like: Turner syndrome, Neural tube defects, Cystic fibrosis, Huntignton's diseases, Duchenne, Thalassemia, Bloom's Syndrome, Noonan Syndrome etc.
Risk Factors For the Occurrence in India:
1. Maternal age: Fertility status of older women (age> 35 years) is directly related to down syndrome. Annual birth of down syndrome babies is almost 35000 in India
2. Health and medical condition of mother: Chronic diseases during pregnancy is another reason of genetic defects in India.
3. Unplanned pregnancies: No antenatal care and unplanned pregnancies are also a reason. According to National Family Health Survey, 23% Indian women are not taking any antenatal care.
4. Nutritional Status of mother: Folic acid, Iodine and other Macro & micro element deficiencies are associated with genetic birth defects.
5. Parent's Genetic carrier Status: carrier frequencies of various types of genetic disorders like Sickle cell Anemia, thalassemia is very common among IndiansStrategies for prevention in India:
According to March of Dimes (MOD) and the World Health Organization (WHO) 70% genetic defects in Babies are preventable. There are Community Genetic Services in India to diagnose, care and prevent genetic diseases. Their goal is to maximize the chances of having healthy babies.
Currently, it is very important to prevent the birth of a child with a genetic defect so that socioeconomic burden can be reduced in India.