Birth Defects Ratio

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).
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.

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