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Birth Defects. What is an….  Amniocentesis: the process of withdrawing a sample of the amniotic fluid surrounding the unborn baby  Chorionic Villi sampling:

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Presentation on theme: "Birth Defects. What is an….  Amniocentesis: the process of withdrawing a sample of the amniotic fluid surrounding the unborn baby  Chorionic Villi sampling:"— Presentation transcript:

1 Birth Defects

2 What is an….  Amniocentesis: the process of withdrawing a sample of the amniotic fluid surrounding the unborn baby  Chorionic Villi sampling: a prenatal test that uses a sample of the tissue from the membrane that encases the fetus to check for specific birth defects. Samples of the tissue are cut or suctioned off and analyzed

3 Cerebral Palsy  Definition: General term for a variety of problems of the motor system. Symptoms can include lack of coordination, stiffness, difficulty with speech and paralysis  Causes: causes vary but include damage to the brain before, during or shortly after birth.  Detections: motor skills are typically slow to develop during 1 st year of life  Treatments: damage to brain is irreversible. Physical and speech therapy, surgery and medication can often lessen effects

4 Cleft Lip & Cleft Palate  Definition: a gap in the upper lip or palate (roof of the mouth) that causes problems with eating, swallowing, speech and appearance  Causes: may be caused by heredity, environmental factors or both  Detections: conditions are apparent at birth. Often detectable by ultra sound before birth  Treatments: surgery corrects the gap and helps eliminate the problems associated with it

5 Cleft lip

6 Cystic Fibrosis  Definition: affects respiratory and digestive systems. Many with CF die before adulthood, although treatment now allows those with CF to live longer  Causes: caused by inheriting defective recessive gene from both parents. Most commonly affects Caucasians.  Detections: blood tests can identify carriers of the gene. Sweat test can diagnose an affected child  Treatments: no know cure. Special diets, lung exercises, therapies and medication can treat symptoms.

7 Cystic Fibrosis

8 Down Syndrome  Definition: a group of problems that may include mental retardation; heart, blood and digestive system difficulties and poor muscle ton  Cause: the presence of an extra chromosome 21  Detections: can be detected in a fetus by amniocentesis or chorionic villi sampling, or after birth with a blood test  Treatment: no know cure. Treatments include therapies, special educational assistance, and in some cases, corrective surgery

9 Muscular Dystrophy  Definition: there are many different types; all involve a progressive weakness and shrinking of the muscles. Most common form begins between ages 2-6  Cause: most types are hereditary. Most common for is transmitted by female carriers of the gene but affects only males  Detections: recognizable one symptoms appear. Genetic counseling can ID carriers  Treatment: no know cure. Physical therapy can minimize the disabilities

10  Muscular  Dystrophy

11 PKU (phenylketonuria)  Definition: condition in which the body is unable to process and use a specific protein present in nearly all foods. Brain damage and mental retardation can result.  Causes: defective recessive genes inherited from both parents  Detections: newborns are tested for PKU, as required by law in all states  Treatments: no know cure. If diagnosed early, a special diet can reduce or prevent brain damage

12 Diet for PKU

13 Sickle Cell Anemia  Definition: malformed red blood cells interfere with the supply of oxygen to all parts of the body. Symptoms include tiredness, lack of appetite and pain. Can lead to early death.  Causes: defective recessive gene inherited from both parents. Most common in African- Americans  Detections: genetic counseling can ID parents who carry the gene. Amniocentesis or chorionic villi sampling can ID in a fetus. Blood tests detect it after birth.  Treatments: no know cure. Medications can help treat symptoms

14 Sickle Cell Anemia

15 Spina Bifida and Hydrocephalus  Definition: in spina bifida, an incompletely formed spinal cord may lead to stiff joints, partial paralysis, and problems with the kidneys and urinary tract. 70/100 children with spina bifida also have hydrocephalus, in which an excess of fluid surrounds the brain.  Causes: seems to be a combo of heredity and environmental factors. Taking a folic acid supplement during pregnancy may reduce incident.  Detections: spina bifida is apparent at birth. Hydrocephalus is indicated by overly rapid growth of the head. Tests of mom’s blood, amniocentesis, and ultrasound can reveal suspected cases in fetus  Treatment: corrective surgery, physical therapy and special schooling can minimize disabilities caused by spina bifida. Hydrocephalus can be helped by surgically implanting a shunt that relieves fluid build up

16

17 Tay-Sachs Disease  Definition: caused by the lack of a specific chemical in the baby’s blood. The body cannot process and use certain fats. This leads to severe brain damage and death, usually by age 4  Causes: defective recessive gene inherited from both parents. Most common in families of eastern European Jewish descent.  Detections: Amniocentesis or chorionic villi sampling can ID carriers and can test for condition after birth  Treatments: no know cure. Treatments involves trying to make the child comfortable.


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