2 Birth DefectsAn abnormality that affects the structure or function of the body.Everyone is born with some type of imperfection (birthmark for example).Birth defects are children born with more serious problems.
3 Causes of Birth Defects HeredityInherited from one or both parentsEnvironmentControllable factors in the environmentA combination of both heredity and the environment.
4 Environmental Influences Harmful substances taken by the motherOver-the-counter medicationsPrescription medicationsIllegal drugsTobaccoAlcohol
5 Environmental Influences When the mother consumes harmful substances, the following can happen to the fetus:Slow the fetal growthCause low birth weight babiesVarying levels of mental retardationMalformations
6 Environmental Influences Diseases or infections from the motherToxoplasmosisHepatitis CHIV and AIDSFifth diseaseChickenpoxCytomegalovirusGroup B streptococcusRubella (German measles)Influenza
7 Helping to Prevent Birth Defects Avoid exposure to X-rays, pollutants, and toxic substances.Get appropriate rest and follow stress management techniques.Age of the motherRisk for genetic birth defects increase if the age of the mother is over 35.Example – Down Syndrome
8 Helping to Prevent Birth Defects Seek early and continual medical attention/prenatal care.Early = By the 13th week of pregnancyContinual = At least 13 total visits over the course of 40 weeks of pregnancy.Maintain a proper diet.The placenta does not transfer essential nutrients to the fetus if a woman is undernourished.
9 Helping to Prevent Birth Defects ExerciseWalking and swimmingAppropriate weight gain24-30 pounds during pregnancy.
10 Helping to Prevent Birth Defects Receive proper immunizations prior to becoming pregnant.Receiving the Rubella vaccine may be dangerous for women who are pregnant.Do not contract an STD/STIThose infections are passed onto the fetus.
11 Folic Acid Helps to prevent neural tube defects. Women of childbearing age who have inadequate folate intakes are more likely to give birth to babies with neural tube damage.400 micrograms of folic acid daily from supplements or fortified foods is recommended.
12 Folic AcidNeural tube damage occurs during the first weeks of pregnancy before a woman may realize she is pregnant.This may be prevented as a mother takes folic acid prior to conception.
13 Detecting Birth Defects UltrasoundUtilizes sound waves to detect the health and development of the fetus.AmniocentesisInserting a needle through the abdominal wall and into the uterus and withdrawing some amniotic fluid to detect birth defects.
15 Recessive Inheritance Both genes in a pair must be defective to cause disease.People with only one defective gene in the pair are considered carriers.Examples include:Sickle cell anemiaCystic fibrosis
16 Dominant InheritanceThe mutated gene is a dominant gene located on one of the nonsex chromosomes.You need only one mutated gene to be affected by this type of disorder.Examples include:Huntington’s Disease
17 Multi-Factorial Inheritance Many factors are involved – heredity and environmentalExamples include:Cleft lip/palateClub hand/footCombination of genes from both parents, in addition to unknown environmental factors, produce the trait or condition.Neural tube defectsCerebral PalsyMuscular Dystrophy
18 Chromosomal ErrorThe fertilized egg cell contains chromosomes in an abnormal structure, number, or arrangement.Examples include:Down’s Syndrome
19 Congenital Malformation A condition that is present at birth.Examples include:Heart defectsNeural tube defectsExtra body parts (such as a finger)
20 Blood Disorder Affect any of the three main components of blood Red blood cells: Carry oxygen to the body’s tissuesWhite blood cells: Fight infectionPlatelets: Help blood to clotExamples include:Hemophilia and Anemia
21 Prenatal DamageExposure to harmful agents during critical prenatal development which causes damage to the embryo or fetus before birth.Examples include:Fetal alcohol syndromeSTD’s and STI’s
22 Metabolic DisorderGenetic conditions that result in metabolism problems.Metabolism: The chemical reactions taking place in the body to convert or use energy.Major examples of metabolism include:Breaking down the carbohydrates, proteins and fats in food to release energy.Transforming excess nitrogen into waste products excreted in urine
23 Metabolic Disorder Major examples of metabolism also include: Breaking down or converting chemicals into other substances and transporting them inside cellsExamples include:Tay-Sachs diseasePKU
24 X-Linked (Sex-Linked) Traits carried on the X chromosomes which makes females the carriers but the defect show up in the males.Examples include:HemophiliaColorblindnessMuscular Dystrophy
25 Influences on Birth Defects HeredityDown’s SyndromePKUMuscular DystrophyColorblindnessHemophiliaCystic Fibrosis
26 Influences on Birth Defects EnvironmentalFetal alcohol syndrome (FAS)STD/STI related
27 Influences on Birth Defects Combination of Heredity and EnvironmentalCleft lip/palateClub hand/footCerebral palsyNeural tube defects
28 Summary There are many factors that influence birth defects. Some you can prevent while others you cannot.Become aware of what you can do now to prepare to have a healthy child.
29 Birth Defects Presentations You will split into 12 groups.Each group will research one birth defect.You will then present your findings to the class the next time we meet.The class will take notes from your presentation.