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Birth Defects Essay


Birth defects are a common problem in the world that affects thousands of infants born every year. They are abnormalities in structure, function or the general body metabolism that occur during birth. These abnormalities eventually lead to mental and physical disabilities which can turn out to be fatal. Despite the improvement in medical technology, there are more than 150,000 babies who are born with birth defects in the United States every year (Pober, 2007). Research has shown that 3 in every 100 babies in the United States are born with some kind of birth defects. Although the real cause of birth defects remains unknown, scientific evidence shows that birth defects may be caused by genetic, environment or due to other unknown factors. Although most parents assume that all birth defects have severe and fatal effects, research has shown that majority of birth defects are treatable and manageable sometimes before the baby is born. However, it is important to understand the risk factors that can lead to development of birth defects in order to prevent their occurrences.This paper will explore in details birth defects including their causes, epidemiology, and the steps that can be taken to intervene and reduce birth defect incidences.

Background & History

Birth defects can be defined as abnormalities that occur in structure, function, and body metabolism which occur during birth. These are wide range of abnormalities which are sometimes fatal and can lead to severs mental and physical disabilities. There are more than 4,000 types of birth defects which range from minor to sometimes very serious defects. Although many birth defects are treatable, they are major causes of death especially in the first year of life (Tornqvist, 2008).

Birth defects are also referred by other terms like congenital disorders, congenital malformation, genetic disorders, and in many other terms. They involve defects which occur during development of fetus in the womb (KidsHealth, 2009). They are caused by a wide range of factors which may include genetic abnormalities, intrauterine environmental conditions, morphogenesis errors, chromosomal defects, and many others. Births defects may have serious effects on the child but the outcome mainly depends on the interaction between pre-natal and post-natal environmental. Substances which cause birth defects are referred to as teratogen.

Causes of Birth Defects

There have been increasing research on birth defects but majority of birth defects have unknown causes. Statistics reveal that more than 60% of birth defects have unknown causes (Pennstate Children hospital, 2009). However research also shows that genetic and environmental factors are leading causes of genetic defects (Taskinen, 1999). Genetic causes are linked to different birth defects which occur mainly when one or both parents have a defective gene which is passed on to the child. Genetic materials are carried through chromosomes and determine the characteristic of the child. A defect in one gene or lack of one gene can lead to birth defect. A number of birth defects are predominantly inherited from parents, which means one parent must be bearing the defect (Sever, 2004; Tornqvist, 2008). For example polydactyl or an extra finger or toe is mainly inherited from parents. However, it is not fatal. Some birth defects can only occur when both parents are presumed carrier of the birth defect. This means that although parent may appear health, they have the defective gene that passes the defect to the child. This is mainly referred to as recessive inheritance and causes recessive disease like sickle cell.

Interventions and Future Steps

The most appropriate interventions in birth defects are taken before the child is born. Most birth defects occur when the child is developing in the environment and therefore this is the right time to put in place intervention measures. However, not all birth defects can be intervened during developmental phase (KidsHealth, 2009). For example, it is difficult to reverse birth deformation that result from genetic factors and the interventions in this case can be done only after the child is born. However, other birth defects that are caused by environment factors can be successfully intervened while the child is growing in the stomach. For example improving mother nutrition will avert a wide range of neural tube defects, educating mothers on dangers of smoking, alcoholism, and inappropriate administration of drugs will also reduce case of a number of birth defects, and many other strategies. In term of levels of prevention, primary intervention should be undertaken since it will be most effective to deal with the causes of the problem. Primary intervention will address the underlying causes to prevent disability caused by birth defects.In the future, strategies to mitigate the situation will depend on the research findings. More than 60% of birth defects have unknown causes and therefore advanced research to find the main causes of these birth defects will form base for future interventions (Pennstate Children hospital, 2009). At the same time current interventions should be continued with to decrease the rate of birth defects in the population.

Conclusions & Recommendations

Birth defects are a major problem facing the world. It is estimated that about 3 to 4 percent of all children live with a major form of defect. About 60% of birth defects have unknown cause but the rest are caused by genetic and environment factors. The most appropriate interventions should be undertaken when the child is developing in the womb but for birth defects caused by genetic factors intervention should be undertaken after the child is born. This paper would recommend increased funding of research to find out the main causes of birth defects since this would make it possible to put in place interventions to mitigate the situation. The paper would also recommend increased funding of current interventions pre and post natal.


Aronson, J., Dodds, A., & Marrett, L. (2016). Congenital anomalies among the offspring of fire fighters. American Journal of Industrial Medicine, Vol. 30:83–6

Chia, S. & Shi, L. (2012). Review of recent epidemiological studies on paternal occupations and birth defects. Occupational and Environmental Medicine, Vol. 59:149-155

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