Birth Defects Ratio

Birth defects which are the major cause of infant mortality and a leading cause of disability refer to “Any anomaly, functional or structural, that present in infancy or later in life and is caused by event preceding birth, whether inherited, or acquired. However the birth defect ratio associated with heredity and/or environment are very difficult to fitter out accurately .This study selected a hospital “social security hospital RWP, is based on people visiting this hospital during the duration of four-month .This study will be conducted to identify the ratio of birth defect; and to know about the genetic, environmental and infection causes of birth defects. This study will also reflect the percentage factor contributing to birth defects.

There are over 3,000 different known birth defects. A birth defect can occur in any major organ and in any part of the body, and can range from minor to severe. Many birth defects lead to mental or physical disabilities, but some birth defects are fatal. They are, in fact, the leading cause of death in the first year of life. Birth defects are also called congenital abnormalities. (Milton, 2004) Birth defects can be grouped into 2 broad categories: major and minor defects. A major defect is an abnormality of an organ structure or function that results in physical disability, mental disability, or death. (Christianson et al, 2006) A minor defect does not produce significant health consequences. Both major and minor defects can occur as isolated entities, affecting 1 organ system, or as multiple defects, affecting 1 or several organ systems. Alone, minor defects are not considered to have significant health consequences. Conservatively, estimates suggest that a causal gene or teratogen accounts for <30% of defects that occur. For the remainder, the most likely explanation is a confluence of genetic and teratogenic exposures. (Falk and robin, 2004) In exposure of the foetus through the mother, the teratogenic effect may arise during the organogenesis phase. Certain birth defects can come into existence after the critical period as well. It seems plausible that different types of structural malformations may share biological mechanisms and that a given teratogenic factor may cause several types of malformations depending on the time window and level of exposure. Most known human teratogens seem to cause specific birth defects. (Koren and Pastuszak, 998)

The concept of multifactorial inheritance (i.e., birthdefects due to complex genetic and environmental interaction) was proposed by Boris Ephrussi in1953 and is now broadly accepted (Passarge, 1995). Other terms to describe this etiological category—for example, non-Men delian complex inheritance—have been used, but the term that remains in general use is multifactorial inheritance. This category accounts for an estimated 20-30 percent of all birthdefects, a number of which are lethal.Chromosomal abnormalities are due to changes in the number or the structure of chromosomes from the normal state that result in a gain or loss of genetic material. Such abnormalities account for approximately 6 percent of birth defects in industrialized countries (Turnpenny and Ellard, 2005).
Congenital means “present from birth.” The baby acquires the infection in utero from the mother and is born with the sequelae of that infection. The TORCH organisms Toxoplasmosis, Other (syphilis, varicella-zoster, human parvovirus B19), Rubella, Cytomegalovirus (CMV), and Herpes—account for the most common infections associated with birth defects (Stegman and Carrey, 2002).

The control of infectious diseases in high-income countries occurred largely as a result of primary prevention through basic public health measures, such as improved sanitation, provision of clean water and education of the public (Garrett, 2000). This is a tragedy because up to 70 percent of birth defects could either be prevented or the children affected offered care that would be lifesaving or significantly reduce disability (Christianson and Modell, 2004; Czeizel et al, 1993).

Review of literature
Birth defects or congenital malformations are inborn structural abnormalities of organs or body parts. The frequency is by definition measured as prevalence at the time of birth and occurs in 3.5% of all live births. Severe malformations which are incompatible with foetal growth and do not survive to birth are not included in birth defect. (Selevan and Lemaster, 1987) A large percentage of the workforce consists of women and a considerable proportion are of reproductive age. Nearly 70% of all birth defects have no known risk factors, therefore attention to the risk of birth defects due to occupational exposure could be of great interest. (Garcia, 1998) The greater prevalence of defects among the offspring of women aged 35 years likely reflects an upward trend in maternal age distribution and the progressive association of certain defects as maternal age increases beyond 35 years. (Hollier et al, 2000) Around 3 to 4 percent of all newborns have a major birth defect. However, many birth defects are not evident until a child grows. For this reason, the rate of birth defects reaches about 10 percent by age five. Statistics show that around 60%

of birth defects have an unknown cause. The others are caused by genetic or environmental factors, or a combination of the two. Twenty per cent or more of malformed foetuses are spontaneously aborted; the rest result in babies with birth abnormalities. (Milton, 2004) In the United States, major birth defects, including structural defects and chromosome anomalies, are estimated to affect 3% of all live births. Canfield et al used pooled data from 11 states with active case finding to calculate national birth prevalence estimates for 18 selected defects. Rates calculated ranged from 0.82 per 10000 live births for truncus arteriosis to 13.65 per 10000 live births for Down syndrome, and these estimates varied according to race and ethnicity. (Canfield et al, 2006) Major birth defects also represent a global public health burden. A recent report by the March of Dimes showed that, worldwide, an estimated 6% of births or 7.9 million children are born annually with a major birth defect of genetic or partially genetic origin. The report also cited that, annually, hundreds of thousands more children are born with defects resulting from in utero exposure to teratogenic agents, such as alcohol or infectious disease, and that at least 3.3 million children <5 years old die as a result of major birth defects. The highest totals of occurrence (94%) and deaths (95%) that resulted from major birth defects were found in middle- and low-income countries. (Christianson et al, 2006) Unfortunately, rates of birth defects and their associated developmental disabilities have not decreased in the same populations within the same time period. In fact, a growing body of data suggests that birth defects are a far more significant contributor to infant and childhood mortality and disability in low- and middle-income countries than previously estimated (IOM, 2003; WHO, 1999).

Materials and method
The study will be conducted in area of Rawalpindi. The study population will be the patients of “social security hospital”. The data will be collected in form of Questionnaire; Approximately 50 questionnaire will be filled out by the patients in four-month duration. Data will be then analyzed statistically, to evaluate the factor contributing to the increasing ratio of birth defects.

01. Czeizel AE, Intôdy Z, Modell B. 1993. What proportion of congenital abnormalities can be prevented? British Medical Journal 306: 499-503.

02. Christianson AL, Modell B. 2004. Medical Genetics in Developing Countries. Annual Reviews in Genomics & Human Genetics 5: 219-265. 03. Christianson A, CP. Howson, B. Modell. 2006. March of Dimes Birth Defects Foundation. Executive Summary: March of Dimes Global Report on Birth Defects—The Hidden Toll of Dying and Disabled Children. White Plains, NY: March of Dimes Birth Defects Foundation. 04. Canfield MA, MA. Honein, N. Yuskiv, et al. 2006. National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999–2001. Birth Defects Res A Clin Mol Teratol; 76:747 – 756 05. Falk MJ, NH. Robin. 2004. The primary care physician's approach to congenital anomalies. Prim Care; 31:605 –619. 06. Garcia AM.1998. Occupational exposure to pesticides and congenital malformations: a review of mechanisms, methods, and results. Am J Ind Med 33:232–240. 07. Garrett L. 2000. Betrayal of Trust, The Collapse of Global Public Health. Hyperion. New York, United States. 08. Hollier LM, KJ. Leveno, MA. Kelly, DD. McIntire, FG. Cunningham. 2000. Maternal age and malformations in singleton births. Obstet Gynecol; 96(5 pt 1):701-706. 09. IOM. 2003. Reducing birth defects. Meeting the challenge in the developing world. Board on International Health, Institute of Medicine, National Academy of Sciences. Washington, DC: National Academy Press. 10. Koren G, A. Pastuszak, S. Ito.1998.Drugs in pregnancy. N Engl J Med 338:1128–1137. 11. Passarge E. Color Atlas of Genetics. 1995. Georg Thieme Verlag Stuttgart. New York. 12. Selevan SG and GK. Lemasters.1987. The dose–response fallacy in human reproductive studies of toxic exposures. J Occup Med 29:451– 454.

14. Stegmann BJ, Carey JC. 2002. TORCH infections. Current Women’s Health Reports 2: 253-258.

13. Turnpenny P, Ellard S. 2005. Emery’s Elements of Medical Genetics. 12th Edition. Elsevier Churchill Livingstone, Edinburgh, United Kingdom.

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