All About Genetic Disease
List the 4 types of Genetic Disorders
Single Gene, Multifactoral, Chromosomal, and Mitochondrial.
What is the role of a Genetic Counselor?
They work with patients and their families to help them understand genetic testing, guide them through the process and help them make informed choices based on their genetic testing results.
Why are designer babies controversial?
Gene manipulation raises many ethical questions, most of which have to do with safety and whether or not humans would simply be interfering with nature.
True or False: During In-Vitro Fertilization, the cells fuse to form a single celled zygote which divides to become an embryo.
True
A sample of chorionic villi is removed from the placenta.
Chorionic Villus Sampling
What is Duchenne Muscular Dystrophy?
An inherited disorder of progressive muscular weakness, typically in boys.
John and Melissa are planning on having their second child. Their first child, Katie, is healthy, and disease does not run in the family. However, a doctor is concerned that the unborn child may be at risk for Trisomy 18. What is the first thing a genetic counselor should do?
The first thing that a genetic counselor should do is allow John and Melissa to ask questions. Then, the counselor should provide all feasible options.
What is the difference between Reproductive Cloning and Therapeutic Cloning?
Reproductive cloning involves creating an animal that is genetically identical to a donor animal through somatic cell nuclear transfer. With therapeutic cloning, an embryo is created in a similar way, but the cloned cells remain in a dish in the lab; they are not implanted into a female's uterus.
True or False: Most new screening tests are invasive.
False
Used to capture a picture of a developing fetus.
Ultrasound
What disease is also known as Edwards Syndrome?
Trisomy 18
What are the risks of taking blood samples from a fetus?
Changes in the baby's heart rate, infection, leaking of amniotic fluid, and death.
What are the two ways to make an exact genetic copy of an organism?
Artificial Embryo Twinning and Somatic Cell Nuclear Transfer.
True or False: Chorionic Villus Sampling is the examination of members of a population to detect heterozygotes for serious disorders.
False
Takes amniotic fluid sample.
Amniocentesis
What disorder can a karyotype help diagnose?
Chromosomal disorder.
Suzanna is expecting her first child, and wants to make sure that her unborn baby is healthy. Suzanna is in her first trimester, and hears about Amniocentesis. Is Amniocentesis a good option for Suzanna?
No. Amniocentesis is only recommended for expectant mothers that are in their second trimester.
What is the role of a Reproductive Endocrinologist?
Trains physicians in reproductive medicine, addressing hormonal functioning as it pertains to reproduction and infertility.
True or False: An embyrologist studies prenatal developement of gametes, fertilization, and embryos/fetuses.
True
Helps to identify an ectopic pregnancy.
hCG test
Genes that influence breast cancer have been found on how many chromosomes?
7
What is the accuracy rate of the PAPP-A Screening test?
85%
What was the name of the famous sheep that was cloned in 1996?
Dolly the sheep.
True or False: Dolly the cloned sheep died at age 6
True
Looks for four substances that help identify abnormalities.
DIA test