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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