PRESENTATION OUTLINE
WHAT IS A BIRTH DEFECT IS?
AN ABNORMALITY PRESENT AT BIRTH THAT AFFECTS THE STRUCTURE OR FUNCTION OF THE BODY AND MAY THERATHEN A BABYS HEALTH
During this time the developing baby depends completely on the mothers body for nourishment and oxygen
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Some environmental causes of birth defects include the following:
* the nutritional balance of the mother's diet.
*any disease or infections the mother has during pregnancy
* harmful substances the mother consumes including alcohol, over the counter medications and illegal drugs.
* some medicines that benefit the mother ur hurt the baby.
Every person has approximately 20,000 to 25,000 genes that not only determine traits such as eye color and height. But also direct the growth and development of every system in the body.
AN ERROR MAY OCCUR WHEN AN EGG OR SPERM CELL IS DEVELOPING CAUSING A BABY TO HAVE TO MANY or to have few chromosomes or to have broken or rearranged chromosomes.
INTERACTION OF HEREDITY & ENVIRONMENT
Some birth defects are caused by a combination of heredity and the environment. If a factor such as a drug or virus affects the baby during pregnancy they baby will have a heart defect.
Cerebral palsy
Description: cerebral palsy is a general term of a variety of problems of the motor system. The symptoms can include lack of coordination, stiffness,jerkiness,difficultly with speech.
Detection: The symptoms usually appear during the first year of life. The child usually does not develop motor skills as quickly as other babies.
Cleft lip and/or cleft palate
Description: a gap in the upper lip or palate (the roof of the mouth) cause problems with eating swelling speech, and appearance.
Detection: both cleft lip cleft palate are apparent at birth they can often be detected by ultrasound before birth.
Cystic fibrosis
Description: cystic fibrosis (CF) affects the respiratory and digestive system. Many with FC die before reaching adulthood, although treatment now allows sufferers with the condition to live longer then in the past.
Detection: symptoms include very salty sweat and a cough that doesn't go away blood test can identify carries of the gene and swear test can diagnose an affected child.
Down syndrome
Description: a group of problems that ay Include, among other condition, mental retardation problems of the heart, blood and digestive system and poor muscle tone.
Detection: it can be detected in a fetus by amniocentesis or chorionic villi sampling or after birth by a blood test.
Muscular dystrophy
Description: there are many different types of muscles dystrophy; all involve a progressive weakness & shrinking of the muscles. The most common form begins between the ages of two & six
Detection: The disease is recognized once symptoms appear genetic counseling can identify carriers.
PKU
Description: PKU is a condition in witch the body is unable to process and use a specific protein that is present in nearly all foods. Brain damage and mental retardation can result.
Detection: newborns are tested for PUK as required by law in all states
Sickle cell anemia
Description: malformed red blood cells interfere with the supply of oxygen to all parts of the body. The symptoms includes tiredness, lack of appetite, and pain. Sickle cell anemia can lead to early death .
Detection: amniocentesis or chorionic villi sampling can identify sickle cell anemia in a fetus. Genetic counseling can identify parents who carry the gene. Blood test can show the presence of the condition after birth
SPINA BIFIDA AND HYDROCEPHALUS
SPINA BIFIDA AND HYDROCEPHALUS
Description: in Salina bifida, an incompletely formed spinal cord may lead to stiff joins difficultly moving the legs partial paralysis, and problems with the kidneys and urinary tract. Seventy of every 100 children with spinach bifida
Also have hydrocephalus in witch an excess of fluid surrounds the brain.
Detection: spina bifida is apparent at birth. Hydrocephalus is indicated by overly rapid growth of the head test of the mothers blood amniocentesis and ultrasound can reveal shoe tend cases in a fetus.
TAY-SACHS DISEASE
Description: babies born with Tay Sachs disease lack a certain chemical in their blood that makes their bodies unable to process and use certain fats in the brain and nerve cell. The condition leads to severe brain damage and to death usually by the age of four.
Detection: amniocentesis or chorionic villi smiling can identify Tay-Sachs disease in a fetus. Blood tests can identify those who carry the defective gene and can test for the condition after birth.