Birth defects: Challenges and solutions

 PART-I

Dr. Giriraj Kusre

(Professor of Anatomy, Assam Medical College, Dibrugarh Phone: 9435034595)

After almost 15 years of their marriage, Mrs. Saikia had given birth to a baby girl. Happiness was palpable in the family. The entire family and their friends gathered to welcome the baby home. Sometime later, Mrs. Saikia observed that something was not right with the baby. They consulted their family physician, who referred them to a higher centre. Their dream crashed when they were told that the baby had Downs syndrome. They had never heard the name before. They had many questions to be answered. What is this Downs syndrome? Why did it happen to our baby? Whom should I approach? What will be the future of the baby, etc.? What they could make out from the doctor was that Downs syndrome was the commonest genetic birth defect seen in human beings and occurred due to the presence of an extra copy of the chromosome in their cell.

October is Down’s syndrome awareness month. The month is observed to celebrate people with Down syndrome and make others aware of their abilities and accomplishments. This month gives an opportunity to think about and understand birth defects, their causes, risk factors, preventive measures, and social measures to be taken.

What is a birth defect? How does it happen? How can it be prevented? The article explores all these questions.

Definition

Birth defects are defined as structural, behavioural, functional, and metabolic defects that appear before the birth of a baby but may or may not manifest at the time of birth or may be expressed as age advances.

It is estimated that 2–3% of all live-born babies show one or more significant birth defects. Birth defects are the leading cause of infant mortality or disabilities and account for approximately 21% of infant deaths. The rate is almost the same on all continents and regions of the earth.

The magnitude of problems in India

In 2017, 7842 deaths per 100,000 population among early and late neonatal periods and approximately 16% of global birth defect deaths among children younger than 5 years of age occurred in India.

In India, although there has been a decrease in the number and rates of three common birth defects (heart defects, musculoskeletal defects, and urogenital defects), the proportion of birth defect mortality among total deaths has increased. In India, girls have shown a higher mortality rate in comparison to boys.

The India Newborn Action Plan of the Government of India has committed to addressing birth defects, and services for small and sick newborns have been put in place in several parts of the country. The Rashtriya Bal Suraksha Karyakram (RBSK) in India has put in place free-of-cost services for common birth defects. The results are now visible in the form of a decreasing trend in some of the defects.

Major and minor birth defects

There are two types of birth defects, depending on their severity. Major birth defects are those that are either incompatible with life or cause severe disabilities or disfigurements, resulting in severe restrictions on activities in life. Significant numbers of babies with major birth defects are eliminated in the early stages of development by abortion or foetal deaths. These deaths are a form of natural selection.