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41 Cards in this Set

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Common recessive disorders
- Sickle cell anemia
- cystic fibrosis
- tay sachs
- PKU (phenylkeonuria)
Common x linked disorders
- Hemophilia
- duchenne's muscular dystrophy
Common dominant disorders
- Huntington's disease
cystic fibrosis
- most common in Europeans
- thick mucus clogs bronchi and pancreatic ducts
- chronic resp infections (inactive cilia) and pulm failure
tay sachs
- common in ashkanzi jews
- degeneration of neurons and nervous system
- death by 2yoa
PKU
- phenylketonuria
- cannot metabolize phenylalanine
- buildup leads to severe mental and physical redardation
- avoiding phenylalanine early helps
- recessive
Huntington's disease
- uncontrollable muscle contractions between 30y and 50y
- loss of memory and personality
- dominant disorder
Hemophilia
- x linked
- lack of clotting factor VII
Duchenne musc dystrophy
- x linked
- replacement of muscle by adipose or scar tissue
- often fatal before 20 (due to cardiac)
When is the fetus most vulnerable to teratogens?
- first 8 weeks of gestation
- during organogenesis
- may cause gross structural defects
fetus is exposed to teratogen at 15 weeks. general effect on baby?
- after 13 w of gestation, teratogen exposure may cause fetal growth restriction and reduction of organ size
- 1st 8 weeks are most vulnerable
What drugs are teratogens
- alcohol
- ACE inhibitors
- carbamazepine (anticonvulsants)
- cocaine
- warfarin
what infections are teratogens
- cytomegalovirus
- varicella
- rubella
- syphilis
- toxoplasmosis
After weeks of exorbitant drinking, a lady realizes that she has been pregnant for the past two weeks. what are the possible effects on the baby?
- a baby is not susceptible to teratogens for the first two weeks of gestation
- maybe perhaps due to time until implantation and formation of placenta
How can one estimate when ovulation will occur?
- 12-14 days after menses
- LH and FSH influence maturation of graafian follicle until ovulation
- this follicular phase lasts for 12-14 days, in line with onset of menses
Explain menstrual cycle and relation to ovarian cycle
Menstrual & Follicular
- start together, new egg/follicle matures (LH, FSH), endometrium is cleaned out
- endometrium builds up during proliferative phase
- lasts 12-14 days

Ovulation - egg is released. LH surge.

Luteal & Secretory
- corpus luteum (empty follicle in ovary) produces high levels of progesterone
- endometrium continues to thicken in anticipation of egg (secretory phase)
- if no pregnancy, then progesterone dec and endometrium sloughs off (menstruation)
- lasts 14 days
Explain conception, cell division, and implantation process
- fertilization occurs, diploid cell is now a zygote
- zygote undergoes cleavage and divides into a ball of 16 cells, called morula
- around day 5, is known as blastocyst (embryoblast and trophoblast parts) - implantation starts
- enzymes secreted by trophoblast (now chorion), digests into the endometrium for implantation
-
What does a zygote look like after 4 days
- after 5 days, it starts getting ready for implantation
- has an outer layer called trophoblast, which later becomes the placenta
- has an inner layer called embryoblast (becomes embryo)
- together these are called blastocyst
-
When does organogenesis occur?
- from implantation to first 8 weeks of gestation
When does heart form during embryological development?
- heart forms by 3rd week, pumps and circulates blood by 4th week
Fetus definition
- from week 9 to birth
- stage of development of organ systems
Fetal circulation
- fetus's three shunts maximize circulation of oxygenated blood coming from placenta
- ductus venosus directs blood to inf. vena cava, allowing oxygenated blood to enter r. atrium
- foramen ovale is a hole between R. atrium and L atrium, allowing the oxygen rich blood to travel through
- ductus arteriosus between pulm artery and descending aorta allows majority of oxygenated blood to travel aorta rather than the lungs
closure of foramen ovale
- may take up to 3 mo
when does a fetus have a 50% chance of survival?
24 weeks
What hormone is detected for pregnancy tests?
hCG - human chorionic gonadotropin
- stim corpus luteum to continue to secrete estrogen and progesterone until placenta is mature enough to secrete those hormones
What is function of placenta
- serves as an interface for exchange between mother and fetus - fetal wastes and CO2 out, nutrients, amino acids and O2 in
- produces hormones that control mother physiology, and matures fetal organs
- protects fetus from immune attack by mother
What hormones are produced by placenta
- progesterone & relaxin
- estrogen
- hCG
- hPL
progesterone
- facilitates implantation (endometrial growth) and dec uterine contractlity
estrogen
- stim enlargement of breasts and uterus
- stimultes myometrial contractility
- aka estriol
hCG
- human chorionic gonadotropin
- stim corpus luteum to continue producing progesterone and estrogen until placenta can take over
hPL
- human placental lactogen
- decreases maternal insulin sensitivity to inc available glucose for developing fetus
- stimulates breast development in preparation of lactation
relaxin
- placental hormone that works with progesterone
- relaxes pelvic ligaments
- softens cervix in preparation for birth
when is placenta fully functional
- around 12 weeks
amniotic sac
- chorionic membrane forms outer membrane, developed from trophoblast
- amniotic membrance forms inner membrane - embyroblast
contents of amniotic fluid
- mostly water
- also proteins, carbs, lipids, electrolytes
- fetal cells, lanugo, vernix caseosa
origin of amniotic fluid
- 1st trimester - amniotic membrane
- 2nd/3rd trimesters - fetal kidneys
* role of amniotic fluid
- thermal regulation for fetus
- cushioning
- umbilical cord free from compression

- symmetric G&D
- lung development and maturity
- allow fetus to swim and move around - musculoskeletal development
normal amt of amniotic fluid at term
800-1000cc

polyhydramnios = 1500-200
oligohydramnios = <500
wharton's jelly
- collagenous substance surrounding umbilical vessels, protecting it from compression
assessing umbilical vessels
- important to assess umbilical cord for 2 arteries and 1 vein
- 20% chance of cardiovascular defect if 1 artery, 1 vein
umbilical cord length
- 18-24 inch long, 1 inch thick
- shorter cords may impede baby's ability to descend through birth canal