Abstract

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.

Introduction

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).

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 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

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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

Study site:

Study will be carried out from social security hospital to evaluate the factors
affecting the increasing birth defect ratio.

Study duration:

Probable duration of the study will be four months starting from October, 2008
to January 2009.

Study design:

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 A survey will be conducted to determine the factors affecting the increasing
birth defect ratio. Data will be conducted in form of questionnaires.

Statistical analysis:

Appropriate statistical analysis will affecting be use in order to determine the

factors affecting the increasing birth defect ratio.

Literature cited

Czeizel AE., Z. Intôdy, B. Modell. 1993. What proportion of congenital abnormalities

can be prevented? British Medical Journal 306: 499-503.

Christianson AL., Modell B. 2004. Medical Genetics in Developing Countries. Annual

Reviews in Genomics & Human Genetics 5: 219-265.

Christianson A., CP. Howson, B. Modell. 2006. March of Dimes Birth Defects
Foundation. Executive Summary: March of Dimes Global Report on Birth
Defects.
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

Falk MJ., NH. Robin. 2004. The primary care physician's approach to congenital
anomalies. Prim Care; 31:605 –619.

Garcia AM. 1998. Occupational exposure to pesticides and congenital malformations:

a review of mechanisms, methods, and results. Am J Ind Med 33:232–240.

Garrett L. 2000. Betrayal of Trust, The Collapse of Global Public Health. Hyperion.
New York, United States.

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.

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.

Koren G., A. Pastuszak, S. Ito. 1998. Drugs in pregnancy. N Engl J Med 338:1128–
1137.

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Passarge E. Color Atlas of Genetics. 1995. Georg Thieme Verlag Stuttgart. New York.

Selevan SG. and GK. Lemasters.1987. The dose–response fallacy in human

reproductive studies of toxic exposures. J Occup Med 29:451–454.

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

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

Pen State Milton S. Hershy Medical Center. 2004.

http:/www.hmc.psu.edu/children/healthinfo/b/birthdefects.htm/

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 BIRTH DEFECTS RATIO

Sex___________ Gestation Period__________

Weight________

Normal / Abnormal

Physical_____________

Genetic______________

Infection_____________

No in brothers / sisters___________________

Brother / Sister Normal / Abnormal____________

MOTHER

Name_________

Age__________ Weight__________

Mother Normal / Abnormal

Physical______________

Genetic_______________

Infection______________

Mother

Smoker / Non-smoker_____________

Takes tea / coffee_________________

Working / Non-working____________

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Permanent Medication___________________

Medical during pregnancy________________

Income_______________________________

Family history about disease___________________________________________

__________________________________________________________________