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NAME__________________________________________________________________ Genetics, Birth Defects, and Reproduction Unit #2 A. Identify Heredity and Environmental Factors influencing birth defects 1. 2. 3. 4. Analyze the influences and effects of genetics and heredity Identify the differences between heredity and environment Define recessive and dominant gene Identify benefits for genetic counseling B. Explain Factors of Birth Defects 1. Know Causes and Characteristics of downs syndrome, PKU, Muscular Dystrophy, Fetal Alcohol Syndrome, Neural Tube Defect, Cleft lip/Palate, and Club foot STATE ASSIGNMENT: Complete the Unit 2 Study Guide to identify Heredity and Environmental factors influencing Birth Defects C. Identify Lifestyle and Environmental Factors influencing birth defects Specify lifestyle factors that minimize environmental birth defects (drugs, alcohol, etc...) Know the role of Folic Acid in the prevention of neural tube defects Know the role of appropriate nutrition and weight gain during prenatal development Know the role of prenatal testing in detecting birth defects (ultra sound, amniocentesis, CVS) Know the importance of early prenatal and on-going prenatal care Know how the Father’s diet, lifestyle, habit’s, and attitude play a big part in a healthy baby D. Explain Correct Facts Concerning Reproduction and Conception 1. Discuss appropriate ways to teach young children about sexuality 2. Review reproductive organs and the functions of each 3. Describe the reproductive process E. Understand How Teens are Affected by Pregnancy 1. Explain how a teen pregnancy affects the physical, emotional, financial, social, educational, and health aspects of both the male and female teen. NAME_______________________________________ Genetics, Birth Defects, and Reproduction Unit #2 A. Identify Heredity and Environmental Factors influencing birth defects 1. See Genetics and Heredity Attached Handout 2. Define and identify the difference between heredity and environmental influences. Heredity is based upon your internal genetic make-up. Environmental is based upon influences in your environment that surrounds you ie: people, chemicals, media, weather, experiences, etc… Scenario: Sammy has brown eyes and is five years old. She attends a neighborhood preschool every day. Her teachers have fallen in love with her witty personality and honey-colored hair. She is very intelligent and does well with the tasks assigned to her. Sammy’s parents are divorced and she misses her father very much. Sammy has juvenile arthritis and must see the doctor often. At her last doctor’s visit, the doctor reminded Sammy’s mom that diabetes has run in her family for several generations and that Sammy should be watched closely for any early symptoms of diabetes. Sammy’s growth chart shows that she will probably be small for her age. List the Heredity Influences in the above scenario: brown eyes, personality, hair, intelligent, responsible, juvenile arthritis, diabetes, small for age List the Environmental Influences in the above scenario: Preschool, teachers, personality, responsible, divorce parents, emotions, doctor appointments 3. Determine the chances of passing on a genetic trait in the following situations. A. The wife is blue-eyed and carries genes for blue eyes on both of the chromosome pairs. The husband is brown eyed and carries a gene for brown eyes on one of the pairs and a gene for blue eyes on he other one of the pairs. Complete the following grid to determine the chances for each of their children to be born with blue or brown eyes. B = dominant brown gene b = recessive blue gene Husband B Husband b Wife b Wife b Bb Bb bb bb There is a _______2______________ in four chance that the child will have brown eyes and carry a gene for blue eyes. There is a _________2____________ in four chance that the child will have blue eyes and carry genes for only blue eyes. B. The wife and the husband carry a gene for the recessive disease of sickle-cell anemia. They do not have the disease, but they may pass it on to their children since they both are carriers. Both pairs of chromosomes must have the gene for a person to have the recessive disease. Complete the following grid to determine the chances for each of their children to be born as carriers or with sickle-cell anemia. r = recessive sickle-cell anemia gene n = normal gene not carrying sickle-cell anemia Husband r Husband n Wife r Wife n rr rn nr nn There is a _________1___________ in four chance that the child will have and carry a gene for sickle-cell anemia. There is a _________2___________ in four chance that the child will not have, but will carry a gene for sickle-cell anemia There is a __________1__________ in four chance the child will not carry a gene for and will not have sickle-cell anemia B. Explain Factors of Birth Defects 1. See Birth Defects Attached Handout C. Identify Lifestyle and Environmental Factors influencing birth defects 1. See Lifestyle and Environment Attached Handout D. Explain Correct Facts Concerning Reproduction and Conception 1. What are 3 reasons for teaching children about sexuality? Obtain correct facts of anatomy and physiology, clarify values an morals, improve communication, recognize destructive elements in relationships, understand marriage infertility, avoid STD’s, Avoid rape, acceptance of own sexuality. 2. Tell appropriate ways to teach sexuality to children? 1. Begin teaching when children start asking questions If a child has not started asking by 6 years old begin talking about it with them. 2. Always tell the truth 3. Use correct terminology. 4. Answer only the questions the child asks and in terms They can understand. 5. Always leave the door open for more discussion later. 6. Explain your moral standpoint as part of every discussion. 7. Remember that children are naturally curious about physical differences. 3. Refer to the Reproduction Diagram for the male and female reproductive organs and their functions E. Understand how Teens are affected by pregnancy 1. Complete the chart below How Does Teen Pregnancy Affect: Physically Financially FEMALE Body is not yet mature and trying to finish its own growing. More susceptible to diseases. Many physical changes to body – some are not too attractive. Body will not be a cute teenage body anymore. Not completed education so future career is often jeopardized. Babies are expensive and little income to provide. Not a lot of money for the teen. May need to depend upon government assistance. MALE Not completed education so future career is often jeopardized. Babies are expensive and little income to provide. Not a lot of money for the teen. May need to depend upon government assistance. Emotionally Socially Educational Health Risks to the baby Health Risks to the Mother Not fully developed emotionally. Hormonal mood swings during teen years and now during pregnancy too. Emotional stress is very high. Baby is dependent upon teen at all times. Teen doesn’t quite know who they are yet. Still searching for their won independence. Not a lot of time for socializing. Most friends do not want a baby dragged along to activities. Babies cannot be conveniently taken to a lot of teen past-times. Limited access to an education so most do not finish high school. College is expensive and childcare is a problem. Entry level jobs do not pay very much and there is little hope for a high paying career. Death rate for baby is 2x as high. May cause low birthweight to baby. Low birthweight babies may not have fully developed organs. Higher death rate. Infants have higher risk of birth defects and other complications. May be affected by STD passed on from the Mom. Birth process is physically demanding a teen’s body is not prepared to meet those demands so complications may arise. Death rate is higher for teen moms STD’s can be fatal to mom. Not fully developed emotionally. Hormonal mood swings during teen years. Emotional stress is very high. Baby is dependent upon teen at all times. Teen doesn’t quite know who they are yet. Still searching for their won independence. Not a lot of time for socializing. Most friends do not want a baby dragged along to activities. Babies cannot be conveniently taken to a lot of teen past-times. Their education depends on how involved they are in the child. Name____________________ HEREDITY and GENETICS True or False Questions - fix the False answers 1. T Genes carry inherited traits that are passed on from generations to generations. Hundreds of thousands of genes, which make up the traits of human beings, are carried on every chromosome. 2. T The passing on of these traits from parent to child is called heredity 3. F Heredity influences such personal aspects as eye color, personality, and food preference (sex,hair,blood type) 4. T Dominant genes are stronger genes and recessive genes are weaker 5. T In the formation of a new individual where the genes are both recessive and dominant, the dominant will always overpower. 6. T It is probable that a dominant brown-eyed mother and a recessive blue-eyed father will have a brown-eyed child. 7. T It is probable that a child can have recessive light colored hair even though both of his parents have dominant dark colored hair. 8. F The female sex cell is the ovum with XY (XY) chromosomes and the male sex cell is the sperm with XX (XX) chromosomes 9. F Each sperm cell and ovum cell carries 23 chromosomes and when the egg is fertilized, the sex cell equals 46 new eyes. (chromosomes) 10. T 50% of the chromosomes comes from the father, but he determines the sex of the child. 11. F Twitterpation (conception / fertilization) is the union of an ovum and a sperm or the beginning of pregnancy. 12. F Fraternal non-identical multiple births that come from two different eggs will look identical. (will look alike, but not identical) 13. F Identical multiple births that come from one fertilized egg can be different sexes. (the same sex) 14. F Double jointed (Siamese / conjoined) twins are when the ovum splits apart but the separation is not complete. Birth Defects Use the words to fill in the blanks environment perinatal damage recessive mutated multi-factoral six guidelines amniocentesis sex-linked syndrome eggs fertilize metabolic defects congenital malformation dominant ultrasound sperm carrier blood disorder birth defects genetic counseling check-ups chromosomal error miscarriage DEFINE and Understand: 1. An abnormality of structure, function, or body metabolism which often results in a physical or mental handicap, a shorter life span, or is fatal. Birth Defects 2. Heredity (20%), environment (20%), and a combination of both (60%) 3. The first 6 weeks of prenatal development is the most sensitive period for birth defects to an unborn baby. METHODS OF INHERITANCE or CLASSIFICATION (use this information for your Birth Defect Chart) 4. The fertilized egg cell, which contains chromosomes in an abnormal number, structure/shape, or arrangement chromosal error 5. Reduced or missing blood component, or an inability to do its full share of the work. blood disorder 6. A condition that is present at birth where part of the body might be missing, misshapen, or duplicated. Congenital malformation 7. Factors, mainly environmental, that cause damage to the fetus before or during birth like infections, chemical substances, complications, and natural disorders of abnormalities. Perinatal damage 8. Diseases of the body chemistry that causes the inability of cells to produce necessary substances like enzymes or proteins or to carry substances from one place to another. Metabolic defects 9. When an X chromosome from mom is faulty, there is a 50/50 chance of the child inheriting the disorder. Sex linked / xlinked 10. The interaction of many genes with other genes or with environmental factors. Multi-factoral RELATED TERMS TO KNOW 11. A person that carries and passes on a disease or condition without having it him/herself. carrier 12. When one parent is a carrier for a disorder or trait and they have a 50% chance of passing it on to the child. dominant 13. Both parents are carriers of the disorder or trait so there is 25% chance of the child inheriting abnormal genes and having the disorder, a 25% chance of receiving normal genes, and a 50% chance of just being a carrier. recessive MATERNAL AND PATERNAL FACTORS THAT INFLUENCE BIRTH DEFECTS 14. Name and explain 5 of the maternal factors that influence a baby having a birth defect Age, # of kids, spacing from prior pregnancy, ethnicity, weight, health, diet, medical, immunizations…… 15. Name and explain 3 paternal (father) factors that influence birth defects Diet, habit, lifestyle, attitude, genetics, medical history 16. Women have all of the eggs / ova needed to create a child before they themselves are even born. 17. Men create new sperm about every 72 hours. 18. Sperm can become mutated due to the father’s environment, heredity or a combination of both., but even damaged sperm can fertilize an egg and create a child. 19. Men should follow ALL guidelines given to a woman to prevent birth defects if they are sexually active. ENVIRONMENTAL OR LIFESTYLE FACTORS THAT CAN CAUSE BIRTH DEFECTS 20. List 5 of these factors STD’s, street drugs, medication, alcohol, radiation, exercise, stress, caffeine, lifestyle, attitude, radiation 21. Of all of the environmental and lifestyle factors presented, which are preventable? OR Which would be considered your fault? Nutrition, substance abuse, STD’s, immunizations, parasites, radiation MEDICAL CARE TO PREVENT AND/OR DETECT BIRTH DEFECTS 22. What form of medical care helps couples to understand their genetic codes and how they might affect their children? Genetic counseling 23. This is a test performed during pregnancy where a small amount of amniotic fluid is drawn out and examined to detect chromosomal abnormalities. amniocentesis 24. High Frequency sound waves to locate the position, size, and structure of the fetus, and placenta in the womb. ultrasound 25. A pregnant woman should go to 13 prenatal check-ups before the baby is born and begin these by week 13 of her pregnancy to ensure a higher percentage of a healthy pregnancy. 26. A miscarriage is natures way of expelling a baby incapable of surviving. 27. List 5 actions on your own that you will take to prevent birth defects from happening to your future children. BIRTH DEFECTS CAUSED BY LIFESTYLES AND ENVIROMENT Match the words in the word bank with its definition. General anesthetic active immunization shots weight gain rest and sleep blood type tobacco pollution malnutrition street drugs miscarriage toxins calorie intake rubella amniocentesis withdrawal low birth weight pre-natal doctor visits toxemia premature folic acid relaxation methods weeks food guide pyramid feeding a fetus medication radiation smoke alcohol still born sexually transmitted diseases rh factor fetal alcohol syndrome ultrasound sexually active caffeine 20 – 35 Birth defect HEALTH AND NUTRITION 1. weight gain is the recommended amount for a pregnant woman who is 24-30 pounds. 2. calorie intake The recommended amount is 2500 calories for a pregnant woman vs. 2200 calories for the average pregnant woman. 3. feeding a fetus When it comes to distributing nutrients, the mom’s body takes her’s first and then the fetus scavenges for what nutrients are leftover. 4.food guide pyramid Follow this to ensure a pregnant person gets a proper diet and amounts of nutrients. 5. malnutrition This is the number one cause of birth defects. 6. folic acid Lack of this nutrient contributes to a neural tube defect which will occur before the mom even knows she’s pregnant. 7. weeks The first 6 are the most crucial for development. Mom doesn’t even know she is pregnant. 8. active Maintain this lifestyle throughout the pregnancy. 9. relaxation methods These techniques will help you to stay relaxed and keep your heart rate down. This is good for the body. 10. rest and sleep Get a lot of this. Now is not the time to pull an all nighter. 11. general anesthetic Avoid this during pregnancy. The dentist and that cavity can wait. 12. rubella Also known as German Measles, does not affect the mom but will affect a developing fetus by causing them to be blind, deaf, retarded, or dead. 13. medication Only use this, in any form, under doctor’s care-even for a little headache or cold. 14. immunization shots Make sure these are up-to-date before you get pregnant to avoid any unwanted illness. 15. prenatal doctor visits Get this early on in the pregnancy and throughout it. Receive 13 check-ups before you deliver. 16. 20 – 35 Optimum age to have a baby is during these years. 17. blood type Know this and your RH type to prevent a blood incompatibility between you and your partner. LIFESTYLE AND HABITS 18. sexually active If this is you, male or female, you should act, do and think as of you are pregnant so as not to harm the developing fetus. Better to be cautious then to harm your baby. 19. radiation Including x-rays will cause gene mutilation of the nervous system and the brain to stop developing which will equal retardation. 20. pollutants This is found in the air and causes severe malformation, physical defects, and cerebral palsy so be careful what you breath. 21. STD’s Like Herpes, AIDS, syphilis, and Chlamydia, will cause major birth defects or death to the fetus. 22. tobacco Using or smoking this restricts blood flow, oxygen and nutrients to developing fetus. It crosses the placenta and harms the fetus’s developing organs. 23. smoke If mom or dad do this, the unborn child could develop growth retardation. 24. caffeine This is still being studied, but in large quantities of coffee or certain sodas it can cause malformations, miscarriage, or premature births. 25. alcohol When the mom drinks this, it bleeds thru to the baby and the baby ends up with the same blood alcohol level as the mom. This will stay with the baby for 2 times longer than it will with the mom. In large quantities it causes FAS. Fetus des not process it as well as the mom. 26. toxins Like what you might find in cat litter boxes, on stray cats, in poorly cooked meats, cleaning supplies, paint, and lead, can lead to birth defects or deaths to developing fetus. 27. Fetal Alcohol Syndrome (FAS) Is a combination of mental and physical birth defects like: facial abnormalities, retardation, learning disabilities, emotional problems, liver disease, and possible alcohol addiction. Most of these are evident at birth. A direct result of mom drinking during pregnancy. 28. street drugs Using these cause avoidable tragic birth defects. With each puff, pop, shoot, or snort, the mom poisons her fetus. Heart attacks, stroke. Seizures, malformations, miscarriages, stillbirth, SIDS, neurological problems, irritability, unresponsive tremors, low birth weight, and abnormal vision are just SOME of the effects on the baby. 29. withdrawal The fetus and baby must go thru this just like the “loving” user mom will, but it is much worse on them. PREGNANCY COMPLICATIONS AND PROBLEMS 30. premature This birth occurs at least 2-3 weeks before pre-natal development is complete. 31. low birthweight This is when the baby weights less than 5 ½ pounds at birth even if it has spent the full 40 weeks in uterus. 32. miscarriage When the baby is involuntarily expelled from the mom’s body because it’s incapable of surviving. 33. stillborn When the fetus appears to be developmentally normal, but for some reason is born dead. 34. Birth Defect An abnormality of structure, function, or body metabolism which often results in a physical or mental handicap, a shorter life span, or is fatal NAME _________________________________ BIRTH DEFECTS CHART Disease/ Birth Defects People Affected Cleft lip/ Cleft Palate Anyone Common in Orientals and Native Americans Anyone Clubfoot When this appears Birth Method of Inheritance Effects on the person Treatment Congenital malformation Multi-factoral Two sides of lip and/or pallet not joined surgery Birth Congenital malformation Multi-factoral Foot and ankle twisted, making it impossible to walk normally Surgery Corrective e shoes Some form of mental retardation, oval shaped eyes, thick big tongue, , short neck, back of head is flat, small ears, flat and wide nose, short and loose joints, common heart problems. Some form of mental retardation. Facial abnormalities Deformed limbs Weakening of muscles. Inability to walk, move, wasting away and sometimes death Abnormal digestion of protein, mental retardation, hyperactivity Surgery Special assistance Varying degrees from slight cyst to open spine (sores, infertile, legs, paralyzed, poor bladder and bowel control, death) Sugery Physical therapy Down’s Syndrome Common if baby has young or old parents. Birth Chromosal error Fetal Alcohol Syndrome birth perinatal Muscular Dystrophy If mom drank alcohol while pregnant anyone Multi-factoral Sex-linked PKU anyone Childhood and adulthood birth Spina Bifida and Neural Tube Defects anyone birth Multi-factoral Perinatal damage Recessive disorder Metabolic defects Cerebral Palsy anyone birth Perinatal damage Sickle Cell Anemia Primarily blacks Birth Recessive disorder Blood disorder Underdeveloped or missing brain OR spinal chord could cause death . Damage of one or more parts of the brain that control movement. Lack of control of movement and posture. Abnormal blood cells, bout of pain, heart and kidney failure, less oxygen to all parts of the body. Death in childhood. Damage to adult vital organs 1 Drug Related 1 Sexually Transmitted Disease Related 1. 2. 3. 4. Which birth defect did you find most interesting to learn about? Why? Which birth defect did you find sad or scary? Why? Learning about genetics, heredity, and birth defects has helped to prepare me to become a parent by…. How are you going to use this new information to better your future? Special assistance none Preventable diet Special treatment plan Special medication Physical therapy Blood transfusions SEYMOUR AND OLIVIA: A BIOLOGICAL ROMANCE Once upon a time in a far away place called Loveville, there lived a small charming young fellow named Seymour J. Sperm. He began his life in an almond -shaped gland called a testicle which was located in a sac called the scrotum. This sac hung under a long organ called a penis through which either urine or sperm passed (but not at the same time). Although young, immature, and underdeveloped, Seymour was a dreamer, yearning for far away places. Perhaps even a lovely female sex cell might be in his future. Before he could seek his fortune, however, he needed time to mature and become strong. So, he moved upstairs into the epididymis with millions of his pals and waited until he grew up. On the other side of town, a young egg cell named Olivia ovum had been developing with many of her friends in an almond-shaped gland called the ovary. She had been there since her mistress’s birth waiting for her turn to be sent out into the world, hopefully to meet her special guy. The day finally arrived when Olivia was forced out of the ovary and drawn into a nearby fallopian tube by a waving finger-like structure called a fimbrea. Carried along by the slight contractions of this tube, she came to rest about one-third of the way from where she had entered, excited by the possibility of meeting the man of her dreams. She knew that she’d only be around for about 8 to 24 hours, so she hoped he’d hurry. Seymour, by this time, felt quite strong and ready to face the world. One day, he noticed an unusual excitement around him as if something important was about to happen. All of a, sudden he felt himself being pushed into the vas deferens, a long tube, which carried him and his buddies up and around the bladder, a sac which stored urine. Soon, he was swimming in a sugary fluid called semen which was produced by the seminal vesicles. He felt full of energy now and began to swim vigorously into the ejaculations duct, which passed through the Prostate gland, a chestnut-sized gland below the bladder. This gland added more glue to the semen. Seymour also passed by the cowpers gland and received even more sticky fluid. At just the right time, Seymour was forced through the urethra, a tube which usually carried urine (but not now). This tube could be found on the underside of a long organ called the penis which was now hard and filled with blood, “WOW” thought Seymour, “What a Trip!” Propelled from the penis, Seymour found himself at the back of a long wet tunnel called the vagina. Ahead was a round doughnut-shaped structure called the cervix with an open hole in the center. Bulls eye! He raced for the target with his buddies in close pursuit. Seymour had to hurry, he only had 24 to 72 hours to reach the lovely female sex cell. Full of energy and determination, he swam swiftly through the cervix and into the bottom of a pear-shaped organ called the uterus whose walls were covered with a thick spongy lining of blood vessels. Would he find her, the sex cell of his dreams? Seymour whipped his tail as hard as he could as he moved up into this organ until suddenly, he came to a “T” intersection. Which way should he turn? Looking back over his shoulder, he saw his buddies closing in on him. Now he was really nervous. Turn left? Turn right? Realizing that he only had a 50% chance of success, Seymour took a big breath and swam left. Soon he entered a long narrow place called the fallopian tube. He swam quickly along its length until there, near the other end, he saw her quietly waiting. His heart skipped a beat. He moved swiftly, closer and closer until he met her. Seymour broke through Olivia’s outer cell membrane that surrounded her and then penetrated her center cell nucleus. Seymour and Olivia each joined their 23 chromosomes to make 46 chromosomes and to begin a new life. The newly formed cell, called a zygote, moved down the fallopian tube and found a cozy spot in the endometrium lining of the uterus. Here, it was to develop into a embryo and then into a fetus which would emerge through the vagina in about 9 months as a new baby. Seymour and Olivia had met, merged, and lived happily ever after. 2. environment 13. recessive disorder 7. perinatal damage 18. mutated ; fertilize 10. multi-factoral 3. six 19. guidelines 23. amniocentesis 9. sex-linked 16. eggs/ovum 8. metabolic defects 6. congenital malformation 12. dominant disorder 24. ultrasound 17. sperm 11. carrier 5. blood disorder 1. birth defects 22. genetic counseling 25. check-ups 4. chromosomal error 26. miscarriage 14. See the handout 15. See the handout 20. See the handout 14. Name and explain 5 of the maternal factors that influence a baby having a birth defect Age, # of kids, spacing from prior pregnancy, ethnicity, weight, health, diet, medical, immunizations…… 15. Name and explain 3 paternal (father) factors that influence birth defects Diet, habit, lifestyle, attitude, genetics, medical history 20. List 5 of these factors STD’s, street drugs, medication, alcohol, radiation, exercise, stress, caffeine, lifestyle, attitude, radiation