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Problems in Prenatal Development
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Miscarriage Loss of a baby PRIOR TO the 20th week of pregnancy.
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Stillbirth Death of a baby AFTER the 20th week of pregnancy.
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Birth Defects
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PKU Inability of body to process a common protein.
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Sickle Cell Anemia Malformed red blood cells interfere with oxygen supply.
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Tay-Sachs Disease Lack of a certain blood chemical makes body unable to process certain fats in the brain and nerve cells.
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Down Syndrome Extra chromosome 21 typically results in mental retardation.
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Causes of Birth Defects
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Environment Poor nutrition Diseases Harmful substances Medicines
Exposure to hazards such as radiation
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Heredity Inheritance of two defective recessive genes.
Inheritance of one defective dominant gene.
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Errors in Chromosomes Having too few or too many chromosomes, broken or rearranged chromosomes.
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Interaction of Heredity and Environment
Inherited genetic predisposition toward a defect coupled with exposure during pregnancy to certain medications, infections, or harmful substances.
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What does a Genetic Counselor Do?
Uses information from physical exams and medical history to assess a couple’s risk for having a child with certain birth defects.
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Prenatal Tests
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Alpha-fetoprotein (AFP)
Mother’s blood is tested to detect abnormal levels of protein AFP No known risk
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Ultrasound or sonogram
Sound waves are used to make a video image of the unborn baby. No known risk
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Mrs. Cissel’s Grandson
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Baby Cohen
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Amniocentesis A small amount of amniotic fluid is removed and tested.
Some risk to fetus.
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Chorionic Villi Sampling
Samples of tissue from the membrane that encases the fetus are removed and tested. Greater risk than amniocentesis
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Avoiding Dangers to the Baby
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Alcohol Fetal Alcohol Syndrome
Incurable condition found in some children of mothers who consumed alcohol during pregnancy Wide range of physical and mental disabilities that last a lifetime Facial deformity, delayed physical growth, heart defects, & hyperactivity
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Mental retardation and severe learning problems
Alcohol interferes with tissue growth and development Brain tissue is easily injured by alcohol Poor coordination and difficulty controlling behavior
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Other Harmful Drugs Medicines – both over-the-counter and prescription
Caffeine – found in some foods and beverages Nicotine and other toxic chemicals found in cigarettes Illegal drugs and inhalants
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X Rays Radiation can cause birth defects
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Hazardous Chemicals and Substances
Paint Pesticides used to exterminate bugs Lead (in water and paint) Carbon monoxide Mercury (found in fish, such as swordfish and shark) Solvents, paint thinners, and formaldehyde (used in some workplaces)
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Infections Some pose a greater risk than others
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Rubella Can cause severe birth defects
First three months most critical Blindness Deafness Heart disease Mental retardation
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Toxoplasmosis An infection caused by a parasite
Can cause blindness, hearing loss, & learning disabilities Death or long-term mental disabilities Miscarriage or stillbirth A pregnant woman should never clean a cat’s litter box, eat undercooked meat, and should wash hands thoroughly and immediately after touching raw meat.
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Chicken Pox If an expectant mother gets chicken pox during the first half of her pregnancy, her baby is at slight risk of getting a condition called “congenital varicella syndrome” Scarring of the skin, limb defects, eye problems, and other serious abnormalities, miscarriage
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Sexually Transmitted Diseases
Some can be passed on to the child during the birth process Syphilis, gonorrhea, hepatitis B, genital herpes, AIDS, and Chlamydia Newborns are treated with a solution that will kill any gonorrhea germs that could cause blindness
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AIDS 35 to 65% risk the virus will be passed on to the baby.
Attacks the brain The infected babies often have seizures and retarded mental development.
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