Maternal Newborn - Week 4 - Ch 3 Genetics, Conception, Fetal Development

Front 1

Common recessive disorders

Back 1

- Sickle cell anemia
- cystic fibrosis
- tay sachs
- PKU (phenylkeonuria)

Front 2

Common x linked disorders

Back 2

- Hemophilia
- duchenne's muscular dystrophy

Front 3

Common dominant disorders

Back 3

- Huntington's disease

Front 4

cystic fibrosis

Back 4

- most common in Europeans
- thick mucus clogs bronchi and pancreatic ducts
- chronic resp infections (inactive cilia) and pulm failure

Front 5

tay sachs

Back 5

- common in ashkanzi jews
- degeneration of neurons and nervous system
- death by 2yoa

Front 6

PKU

Back 6

- phenylketonuria
- cannot metabolize phenylalanine
- buildup leads to severe mental and physical redardation
- avoiding phenylalanine early helps
- recessive

Front 7

Huntington's disease

Back 7

- uncontrollable muscle contractions between 30y and 50y
- loss of memory and personality
- dominant disorder

Front 8

Hemophilia

Back 8

- x linked
- lack of clotting factor VII

Front 9

Duchenne musc dystrophy

Back 9

- x linked
- replacement of muscle by adipose or scar tissue
- often fatal before 20 (due to cardiac)

Front 10

When is the fetus most vulnerable to teratogens?

Back 10

- first 8 weeks of gestation
- during organogenesis
- may cause gross structural defects

Front 11

fetus is exposed to teratogen at 15 weeks. general effect on baby?

Back 11

- after 13 w of gestation, teratogen exposure may cause fetal growth restriction and reduction of organ size
- 1st 8 weeks are most vulnerable

Front 12

What drugs are teratogens

Back 12

- alcohol
- ACE inhibitors
- carbamazepine (anticonvulsants)
- cocaine
- warfarin

Front 13

what infections are teratogens

Back 13

- cytomegalovirus
- varicella
- rubella
- syphilis
- toxoplasmosis

Front 14

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?

Back 14

- 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

Front 15

How can one estimate when ovulation will occur?

Back 15

- 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

Front 16

Explain menstrual cycle and relation to ovarian cycle

Back 16

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

Front 17

Explain conception, cell division, and implantation process

Back 17

- 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
-

Front 18

What does a zygote look like after 4 days

Back 18

- 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
-

Front 19

When does organogenesis occur?

Back 19

- from implantation to first 8 weeks of gestation

Front 20

When does heart form during embryological development?

Back 20

- heart forms by 3rd week, pumps and circulates blood by 4th week

Front 21

Fetus definition

Back 21

- from week 9 to birth
- stage of development of organ systems

Front 22

Fetal circulation

Back 22

- 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

Front 23

closure of foramen ovale

Back 23

- may take up to 3 mo

Front 24

when does a fetus have a 50% chance of survival?

Back 24

24 weeks

Front 25

What hormone is detected for pregnancy tests?

Back 25

hCG - human chorionic gonadotropin
- stim corpus luteum to continue to secrete estrogen and progesterone until placenta is mature enough to secrete those hormones

Front 26

What is function of placenta

Back 26

- 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

Front 27

What hormones are produced by placenta

Back 27

- progesterone & relaxin
- estrogen
- hCG
- hPL

Front 28

progesterone

Back 28

- facilitates implantation (endometrial growth) and dec uterine contractlity

Front 29

estrogen

Back 29

- stim enlargement of breasts and uterus
- stimultes myometrial contractility
- aka estriol

Front 30

hCG

Back 30

- human chorionic gonadotropin
- stim corpus luteum to continue producing progesterone and estrogen until placenta can take over

Front 31

hPL

Back 31

- human placental lactogen
- decreases maternal insulin sensitivity to inc available glucose for developing fetus
- stimulates breast development in preparation of lactation

Front 32

relaxin

Back 32

- placental hormone that works with progesterone
- relaxes pelvic ligaments
- softens cervix in preparation for birth

Front 33

when is placenta fully functional

Back 33

- around 12 weeks

Front 34

amniotic sac

Back 34

- chorionic membrane forms outer membrane, developed from trophoblast
- amniotic membrance forms inner membrane - embyroblast

Front 35

contents of amniotic fluid

Back 35

- mostly water
- also proteins, carbs, lipids, electrolytes
- fetal cells, lanugo, vernix caseosa

Front 36

origin of amniotic fluid

Back 36

- 1st trimester - amniotic membrane
- 2nd/3rd trimesters - fetal kidneys

Front 37

* role of amniotic fluid

Back 37

- 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

Front 38

normal amt of amniotic fluid at term

Back 38

800-1000cc

polyhydramnios = 1500-200
oligohydramnios = <500

Front 39

wharton's jelly

Back 39

- collagenous substance surrounding umbilical vessels, protecting it from compression

Front 40

assessing umbilical vessels

Back 40

- important to assess umbilical cord for 2 arteries and 1 vein
- 20% chance of cardiovascular defect if 1 artery, 1 vein

Front 41

umbilical cord length

Back 41

- 18-24 inch long, 1 inch thick
- shorter cords may impede baby's ability to descend through birth canal