Essay, Research Paper: Birth Defects

Birth Defects



Many people think of birth defects as things that happen to other people. They

don't. Birth defects can, and do happen to anyone regardless of age, sex, race, economic

status, or education. Birth defects occur in one out of 28 births. There are about 4000

different birth defects. They are the leading cause of infant death and a major couse of

disability in young people, affecting more than 150, 000 babies each year. There is some

good news though, the rate of infant deaths due to birth defects has been cut in half since

1960. However, despite ongoing research, the causes of about 60 percent of birth defects

are unknown. In the early 1990's, it was discovered that, by taking the B vitamin folic

acid daily women can reduce the risk of having a child with birth defects of the brain and

spinal cord.


Every child born is at risk of birth defects. 1 in 115 births will have heart or

circulation problems. 1 in 130 births will have muscle or skeleton problems. 1 in 135

births will have Renal agenesis, the absence of one or both kidneys. If one kidney is

missing the prognosis is good unless there are other complications. If both kidneys are

absent, death occurs shortly after birth. 1 in 135 births will also experence Uninary

Obstruction, this includes a variety of malformations that obstruct the passage of urine. 1

in every 235 births will have problems with the nervous system, like Cerebral palsy.

Cerebral palsy is any of various non-progressice disorders characterized by inpairment of

voluntary movement, resulting from maldevelpment of the brain of damage to it

prenatally, during birth, or at any time up to the age of about 16 years. This be

accompanied by other abnormalities of the brain functions, such as mental retardation.

Problems with the nervous system may also be Spina bifida. Spina bifida is a

malformation of vertebrae, involving malformation and protrusion of the spinal cord and

spinal nerve roots. The degree of consequent disability depends largely on the extent and

exact location of the spinal cord malformations. 1 in 600 births will have Chromosomal

Syndromes. The most common is Down syndrome. This ia a variable combination of

birth defects including mental retardation and characteristic facial features. About 40

percent of babies with this condition also have congentital heart defects, and many have

some visual and hearing impairment and various other health problems.


What causes birth defects? There are many different things. Some birth defects

can be inherited, just as we inherit other characteristics such as eye color. The hereditary

information is passed from parent to child in genes. Children inherit genes from each

parent. If one parent has the gene for a dominant disorder, the child has a 50 percent

chance of inheriting this gene and developing the disorder. This is know as dominant

inheritance. Sometime defects are due to problems of the chromosomes. Chromosomes

may have undergone changes while they were still in the egg or sperm, or may be

changed by an environmental factor, such as heavy exposure to radiation. Once these

changes occur, they can be passed on to future generations. Birth defects can also be

caused by infections. Rubella (german measles) is probably the best know infectious

disease which can cause birth defects. The virus can cause deafness, heart defects,

blindness, and mental retardation. More common infectons are cytomegalovirus and

toxoplasmosis, a parasitic infection that can be contracted through handling or eating

undercooked meat or contact with cat feces. Both of these infections may cause mental

retardation and other problems. Sexually transmitted diseases also endanger the unborn

and newborn. As a result of untreated syphilis, a child may be born with born

malformations and infection of many body organs. Gonorrhea can cause eye infection

and blindness if the baby is not treated promptly after delivery. Genital herpes simplex

virus can cause severe brain damage and sometimes death to a baby if the mother has a

flare-up of the infection at the time delivery. Women who have AIDS have about 30 to

40 percent chance of infecting there babies. Most babies who develop AIDS die within

their first few years of life.


During periods of rapid development of the fetus, a balanced diet with plenty of

nutrients specific for pregnancy and adequate calorie intake are most inportant. Poor

nutrition has been associated with inhibited fetal growth. Various chemical wastes and

pesticides are known to cause birth defects. Studies of exposures to things like lead and

other pollutants are shedding more light on additional enviromental threats to pregnancy.

Such effects usually result from much higher doses than commonly occur in the

enviroment. A few pollutants, including lead and mercury have been shown to cause

birth defects in humans. Few birth defects can be attributed to a single cause. The

majority are thought to result from interplay between environmental factors and heredity.

The outcome depends on inherited susceptibility stage of pregnancy and degree of

environmental hazard.


Children of mothers who drink alcohal during pergnancy may be born with a

recognizable pattern of mental and physical defects known as Fetal Alcohol Syndrome

(FAS) or Fetal Alcohol Effects (FAE). Alcohol in any form such as beer, wine, wine coolers,

or hard liquor quickly reaches an unborn baby. The safest choice is to stop drinking

completely before conception and during pregnancy, as it is not known how much alcohol

will harm developing babys. FAS is characterized by a cluster of congenital birth defects

that develop in the infants of some women who drink heavily during pregnancy. These

defects include prenatla and postnatal growth deficiency; facial deformities, such as small

head circumference, falttened midface, and sunken nasal bridge. 4 out of 10,000 babys

are born with FAS.


Women who smoke tend to have more stillbirths, miscarriages or low birthweights.

Babies born with low birthweight are at greater risk of death of disability than newborns

with normal weight, and they may also have learning problems in school.


The unborn baby of a pregnant woman taking street drugs such as cocaine is the

direct target of those drugs, not a secondary victim, according to a researcher studying

the way these drugs get to the baby. The premature birth of tiny babies who have heart

problems or other birth defects often results from mothers to be taking cocaine and

similar street drugs. The baby's problems were believed to be the indirect result of the

drugs, this is circulated in the pregnant woman's bloodstream constricting her blood

vessels, raising her blood pressure and increasing her heart rate and so also restricting the

flow of nutrients and oxygen to the baby. But the Medical College of Georgia

researchers found that two of the three pathways these drugs take to the pregnant

woman's brain also exist in the placenta; the exception is the so called "pleasure" pathway

of the neurotransmitter which results in users feeling elated and eventually addicted.


Relatively few birth defects can be completely corrected, but many can be treated

to slow, stop or partly reverse harmful effects. There are growing reasons for an

optimistic out look about the life many children with birth befects can lead. In recent

years, there have been tremendous gains in medical treatment, education and other

opportunities for people with disabling conditions. Some treatments can be done before

the baby is born. These include medication to reverse fatal heart failure, transfusions to

counteract severe Rh blood disease, and hormona and vitamin theropy to correct

metabolic problems. Prenatal corrective surgery also is an important way to repair

certain defects. In a landmark operation in 1989, March of Dimes researchers

successfully repaired a life threatening internal malformation in a fetus still in the womb.

Other uses of prenatal sugery include the repair of potentially fatal urinarry tract

blockages. Transplants, including corneas, kidneys, liver and bone marrow also are

possible means of treatment for some conditions. Soon, gene therapy (replacement of

faulty or missing genes with new ones) will give some children a second chance for a

life nearly free of disabilities. Advances in prosthetics, from lifelike artificial hands and

limbs that respond to the body's own muscle signals to powerful hearing aids, bring new

abilities to those with disabilities. Rehabilitative training can help compensate for a

variety of impairments, including mental, physical and sensory problems. Therapy to

improve slowing reflexes, increase attention span, and aid learning skills are examples

of many ways rehabilitation medicine can bring a higher level of functioning to those with

certain birth defects. This training also can help patients build muscle tone, range of

motion and other skills that help them lead fuller lives. New medications, such as those

to control spasticity, are easing the burden of living with some birth defects.

Technological advancements, including wheelchairs with adaptive controls and standing

wheelchairs, allow new mobility for many. The world in general is increasingly

understanding and accepting of people with disabilities. Finally, there is greater emphasis on

fitness for the disabled, seen in the growing popularity of sports competitions, also

reflects more interest in seeing what children and adults with birth defects or handicaps

can do rather than what they cannot.