Genetics, conception, fetal development, and reproductive technology Flashcards
___ is the basic functional and physical units of hereditary
genes
Genes are composed of?
DNA
Proteins
The human genome contains approx. how many genes?
30,000 genes
how many chromosome are their in the human cell?
46 chromosomes
___ is an individuals genetic make-up
genotype
___ is the ways in which genes are outwardly expressed
phenotype
Individuals inherit two versions of each gene, known as ___ , from each parent.
alleles
what type of allele requires two copies of the trait to be expressed?
recessive alleles
Which sex-linked inheritance can only be passed from a male parent to a male off-spring?
Y-linked inheritance
Why would a male always present w/ a genetic disorder if the x-linked inheritance whether it be dominant or recessive contains a genetic disorder?
Males only have one “x” chromosome causing recessive or dominant “x” genes to be expressed as there is no other “x” chromosome to mask it’s effect.
Which type of genetic testing detects changes in embryos that are created using assisted reproductive techniques?
Preimplantation testing
Which type of genetic testing informs parents the risk of having a child w/ a genetic condition?
Carrier testing
Which structure is:
- covered in connective tissue
- holds the testes
- temperature is lower than core body
- facilitates sperm production
Scrotum
Which structure does spermatogenesis take place in?
testes
(specifically within the seminiferous tubules located inside)
Which structure is the final duct which semen passes as it exits the body?
Urethra
Which structure does fertilization occur in?
Fallopian tube
The primary follicles that contains oocytes are located in which structure?
Ovaries
Which structure is responsible for pulling the ovum into the fallopian tube?
Fimbriae
The inner lining of the uterus is called the?
Endometrium
Endometrium is split into what two layers?
Basilar layer
Functional layer
Which endometrium layer is sloughed off during the menstrual cycle when implantation does not occur?
Functional layer
What are the two phases of the menstrual cycle?
- Ovarian cycle
- Endometrial cycle
Which phase of the ovarian cycle has the greatest variability in days?
- Follicular phase
- Ovulatory phase
- Luteal phase
follicular phase
Which phase of the ovarian cycle begins when estrogen levels peak and ends w/ the release of the oocyte (egg)?
- Follicular phase
- Ovulatory phase
- Luteal phase
Ovulatory phase`
Which phase of the ovarian cycle does the corpus luteum form and begins to release high levels of progesterone?
- Follicular phase
- Ovulatory phase
- Luteal phase
Luteal phase
Which phase of the endometrial cycle follows menstruation and ends with ovulation?
- Proliferative phase
- Secretory phase
- Menstrual phase
Proliferative phase
Which phase of the endometrial cycle is the primary hormone progesterone? During this phase the endometrium continues to develop and begins to secrete glycogen for the blastocyst.
- Proliferative phase
- Secretory phase
- Menstrual phase`
Secretory phase
Which phase of the endometrial cycle results in the sloughing off of the endometrial tissue?
- Proliferative phase
- Secretory phase
- Menstrual phase
Menstrual phase
Formation of a mature ovum is regulated by what two primary hormones?
- Follicle Stimulation Hormone
- Estrogen
Which form of cell division produces genetically identical cells containing diploid number of chromosomes?
Mitosis
Which form of cell division produces genetically identical cells containing haploid (half) number of chromosomes?
Meiosis
What hormone is secreted from follicle cells and promotes maturation of the ovum?
Estrogen
Follicle Stimulating Hormone and Luteinizing Hormone is secreted by which gland?
Anterior pituitary gland
When does implantation occur?
when the blastocyst is embedded into the endometrium layer.
The outer cell mass of the blastocyst that becomes part of the placenta is called what?
Trophoblast
How many weeks is considered “full-term” pregnancy?
39-40 weeks
The opening b/w left and right atrium in a fetal heart is called?
Closes within 3 month of birth.
Foramen ovale
What structure connects the umbilical vein to the inferior vena cava to the right atrium?
ductus venosus
What structure connects the pulmonary artery to the descending aorta?
Constricts after birth.
Ductus arteriosus
What is the function of the cotyledons (lobes of the maternal placenta)?
- Prevents maternal and fetal blood from mixing.
- Allows for exchange of gases, nutrients, and electrolytes.
What are the 4 functions of the placenta?
- Metabolic and gas exchange (nutrients, fetal waste, and CO2)
- Hormone production (Progesterone and estrogen)
- Human chorionic gonadotropin (hCG) (stimulates corpus luteum to release progesterone and estrogen until placenta can take over)
- Human placental lactogen (regulate glucose and stimulate breast development)
When is the developing human most vulnerable to the effects of teratogens?
During organogenesis, which occurs during the first 8 weeks of gestation.
how long is the embryonic developmental stage?
(up till it becomes a fetus)
implantation to 8 weeks
What week does the heart begin to form?
When does circulation and cardiac activity begin?
When can the fetal heart tone be heard by a Doppler?
- Heart forms in the 3rd week
- Circulation and cardiac activity begins on the 4th week
- Heart can be heard on the 12th week
What are the three major events of the embryonic developmental stage?
- Implantation
- Division of germ layers (Ectoderm, Mesoderm, Endoderm)
- Organogenesis
Name a dominant inherited disease.
Name two x-linked diseases.
- Huntington’s Disease
- Hemophilia and Duchenne’s Muscular Dystrophy
Estrogen and progesterone are initially produced by ___ before taken over by the ____.
Estrogen and progesterone are initially produced by corpus luteum before taken over by the placenta.
The primary follicle (Graafian follicle) is matured under what two pituitary hormones?
Follicle Stimulating Hormone (FSH) and Luteinizing Hormone (LH)
Name the three phases of the ovarian cycle.
- Follicular phase
- Ovulatory phase
- Luteal phase
Name the three phases of the endometrial cycle.
- Proliferative phase
- Secretory phase
- Menstrual phase
What physiological changes occurs in the breast during pregnancy?
- Tenderness, soreness, fullness,
- increase vascularity (blood supply)
- Enlargement of breast, nipples, & areola.
- Striae may be occurring.
- Prominent veins may appear
What is Chadwick’s sign?
Bluish coloration of cervix, vaginal mucosa, and vulva
What physiological changes occur in the uterus?
Enlargement and stretching of uterus to accommodate developing fetus and placenta
Decrease pH of vagina (becomes more acidic)
By which week does the uterus move up and out of the pelvis and into the abdomen?
Week 12
By which week does the uterus move up and out of the pelvis and into the abdomen?
Week 12
What CBC lab changes are noticed during pregnancy?
(WBC, RBC, Hemoglobin, Hematocrit, Platelets)
- WBC ↑
- RBC ↑
- Hemoglobin ↓
- Hematocrit ↓
- Platelets - no change
Which blood type would pregnant women be given RhoGAM?
When would it be given?
Rh-Negative women
Week 28 (Second trimester) and post-partum if baby is Rh positive
How many prenatal visits typically occur in the first trimester?
every 4 weeks
How many prenatal visits typically occur in the second trimester?
every 4 weeks
How many prenatal visits typically occur in the third trimester?
Every 2-3 weeks and every week around 35-40 weeks.
What are teratogenic agents (5) to be aware of?
- Alcohol
- Angiotensin-converting enzyme (ACE) inhibitors
- Carbamazepine (anticonvulsant
- Cocaine
- Warfarin (Coumadin)
