Week 3 - Part 1 Flashcards
Neural tube defects
most common birth defects
1:1000 in US
tube closure is at 4 weeks gestation
anencephaly, open/closed spina bifida, encephalocele
Tx: folic acid supplement during first 4 weeks
Causes of congenital anomalies
alcohol, ionizing radiation, isotretinoin, teratogens, uncontrolled diabetes, etc
Infections: CMV, Parvo B19, varicella, toxoplasmosis, herpes simplex, treponema pallidum (syphilis), rubella
Early pregnancy
ovulation is 14d before menses
dominan follicle transforms into corpus luteum (esrogen to progesterone)
fertilization is 24-48hrs after ovulation, tranforms into morula then blastocyst
Implantation is 6-7d after fertilization, syncytiotrophoblasts invade myometrium
First trimester bleeding
not necessarily abnormal
- implantation bleeding (really early)
- subchorionic hemorrhage
- incomplete abortion (cervix open)
- ectopic pregnancy
- hestational trophoblastic neoplasia
Diagnosis of pregnancy
urine pregnancy test= B-hCG
hCG shares a subunit with LH, FSH, TSH
hCG doubles every 48hrs in normal preg, peaks at 10 weeks
Molar pregnancy
multi-cystic mass in uterus
Complete: 46xx/xy all paternal DNA, no fetus, super high hCG, risk of choriocarcinoma, theca lutein cysts, complications
Partial: triploid 69xxy, fetus present, less risk of other stuff
Tx: methotrexate (DHFR inhibitor)
Normal (adaptive) Changes during pregnancy
Blood: decreased systemic vascular resistance, widened pulse pressure, increased cardiac output, increased HR, increased blood volume (more than RBC mass) ((aort-caval compression- supine hypotension, use left lateral tilt), systolic murmurs,, everything gets even more ramped up during labor and pushing
Respiratory: increased tidal vol, unchanged resp rate, decreased total lung capacity, hyperventilation (dec pCO2, compensatory dec HCO3)
Hematologic: glucocorticoid mediated leukocytosis, pro-thrombotic state, venous stasis
Endocrine: insulin resistance, increased thyroid, increased cortisol
GI: slowed motility, GERD, nausea (bc hCG), biliary stasis, elevated alk phos
Stages of labor
1: longest, latent= contractions with slow cervical dilation,, active= fast cervical dilation (change around 4cm)
2: complete dilation until delivery
3: after fetus before placenta (30min)
Labor contractions
quiescent state= progesterone, low # of gap junctions
upregulation of CAP+ uterine stretch= estrogen phenotype= labor
stim by oxytocin (PLC) and prostaglandins
action potential- intracellular Ca- calmodulin- myosin- contraction
Uterine contraction relaxants
relaxin, NO, Mg, PTHrp, B2-agonists, oxytocin-antagonist, Ca-channel-blockers, prostaglandin-inhibitors
Labor trigger theory
increases in ACTH or CRH- promotes myometrial contractility
Gestational diabetes
onset of abn glucose tolerance during preg
test all women 24-48weeks
risks: obesity, fam hx, AA
high glucose supply to baby leads to hyperinsulinemia, which can result in hypoglycemia after birth
also macrosomia, polyhydramnios
dx: glucola screen + fasting glucose
Hypertensive disorders of pregnancy
gestational HTN= new onset HTN
Preeclampsia= severe HTN + proteinuria or end organ damage (eclampsia=seizures)
HELLP= severe HTN + hemolysis, elevated liver tests, low platelets
Fetal sequelae= small birth weight, oligohydramnios, preterm, metabolic/CV disorders
Preeclampsia
pathophys: sFlt1, sEng, defective trophoblast differentiation, Ang antibodies, incomplete spiral artery remodeling – placental hypoperfusion
also fetal growth restriction and oligohydramnios
Management: close monitoring, delivery is only sure, MgSO4 for seizure prophylaxis, betamethasone for fetal lung maturation
gestational hyperthyroid
transient, due to excess hCG
hyperemesis gravidarum= nausea, vomiting due to excess hCG
-also can get Hashimoto’s or Graves, or iodine def,
Mortality rations and things
maternal mortality rate= # maternal deaths / # reproductive age women *100000
maternal mortality ratio (MMR)= # maternal deaths / # live births * 100000
Most common cause of maternal death= hemorrhage, HTN disorder, sepsis
fetal mortality rate (FMR)= # fetal deaths / number of live + stillbirths *1000
neonatal mortality rate (NMR)= # neonatal deaths / # live births * 1000
perinatal mortality rate (PMR)= # fetal + neonatal deaths / # live + stillbirths *1000
stillbirth(fetal death)= 20w-birth
neonatal= birth-28d
perinatal= 20w-28d
Indications for genetic testing
advanced maternal age over 35 or 33 for twins
fathers over 40-45
hx of pregnancy loss
1st trimester screening
risk assessment for ts21,13,18
11w-13w
all pregnant pts
uses ultrasound (nuchal translucency and nasal bone) and serum analysis (b-hCG and PAPP-A)
Non-invasive prenatal screening (NIPS) via cell-free fetal DNA
the new thing on the block
risk assessment for high risk maternal pop
available 10w– (1st trimester)
uses serum analysis of DNA
2nd semester screening
maternal serum quad test
risk assessment for DS, ts18, neural tube defects
avail 15w-20w
for all preg pts
uses serum analysis: AFP, hCG, uE3(estriol), DIA
Prenatal diagnostic testing
FISH, karyotype, (microarray)
chorionic villus sampling (CVS): for all preg, increases risk of loss by 1%
amniocentesis: for all preg, increases preg loss rate
cordocentesis/PUBS: umbilical blood sampling: used for follow-up diagnosis only
1st semester fetal death
most common: chromosomal abn, aneuploidies (ts16)
also other genetic things
uterine abns (septum, polyps, etc)
infection (CMV, rubella, toxoplasma)
2nd semester fetal death
cervical insufficiency (painless cervical dilation premature rupture of membranes, infection (flu)
3rd trimester fetal death
premature rupture of membranes preterm labor placental abruption umbilical cord compression infection intrauterine growth restriction placental dysfunction HTN disorders
Placenta previa
placenta over cervical os
painless, no contractions
3rd trimester bleeding
Placenta abruption
placenta separation due to hemorrhage into decidual basalis
bleeding (3rd trimester)
uterine tenderness, contractions
Vasa previa
3rd trimester bleeding (from umbilical cord, due to trauma from baby head against cervical os)
can lead to fetal death
Placental pathology
cord entanglement
Funisitis= inflammation of the cord (fetal response)
Meconium staining= maternal leukocytes take up meconium
Chorioamnionitis
Oligohydranios= squamous metaplasia
fetal/maternal vasculopathy
distal villous hypoplasia
malignancy (rare): choriocarcinoma, hydatidiform moles, neuroblastoma(fetal)
Histology of fetal membranes
amnion, chorion, decidua
Drugs for prevention of preterm labor
progesterone
tocolytics: inhibit uterine contractions
- Nifedipine (Ca-channel blocker)
- MgSO4 (Ca-influx antagonist)- can’t use for long bc low Ca levels
- Indomethacin (COX inhibitor)- can induce ductus arteriosis closure
Drugs for labor induction
Dinoprostone (PGE2): promotes ripening and dilatation of cervix (side= uterine hyperstim)
Misoprostol (PGE1): same
Oxytocin: drug of choice (sides= uterine hyperstim and tetany)- short half-life
Drugs for postpartum hemorrhage
Oxytocin (maintains uterine contractions)
Ergonovine
Most common mass lesions of breast by age
15-25: fibroadenoma
25-35: fibroadenoma (cyst or cancer possible)
35-50: fibrocystic changes, cancer, cyst
over 50: cancer until otherwise
Pregnant: lactating adenoma, cyst, mastitis, cancer
Inflammatory conditions of breast
acute mastitis (breast abcess, during breast feeding, S aureus)
periductal mastitis
mammary duct ectasia
fat necrosis (benign painless lump from trauma)
other
Non-proliferative breast changes (fibrocystic change)
30-50yo, common
lumpy breast, mass, calcifications, nipple discharge
pain, tenderness may occur in premenstrual phase
Includes: cysts, fibrosis, mild adenosis, mild ductal hyperplasia, apocrine metaplasia
Complex sclerosing lesion of breast
40-60yo
usually non-palpable, detected on mammography
stellate or spiculated lesion with central core
Tx: excision
(Intraductal) Papilloma of breast
any age usually central breast nipple discharge is primary symptom bloody discharge, subareolar mass slight risk of carcinoma
Risk of invasive carcinoma from benign lesions
None: adenosis, fibroadenoma, fibrosis, hyperplasia w/o atypia, cysts, apocrine metaplasia
Small: complex fibroadenoma, sclerosing adenosis, solitary papilloma
Moderate: atypical ductal/lobular hyperplasia
Significant: DCIS(ipsilateral), LCIS(both)
Fibroadenoma of breast
most common in young adults
solitary, well-circumscribed, moveable, painless
regress during menopause
NO risk of cancer
Phyllodes tumor
fibroepithelial tumor of breast
benign or malignant
50-60yo
increased in latin women
discrete palpable breast mass, non-encapsulated
rapid growth
leaf-like or epithelium lined clefts, cysts, inc cellularity
Ductal carcinoma in situ (DCIS)
50-60yo some can be bilateral or multicentric some have palpable mass fills ductal lumen comedo(caseous necrosis) or non-comedo Tx: surgery, radiation, hormonal some low grade and most high grade progress to invasive
Paget’s disease of the nipple
a form of DCIS extending to skin
ulcerated, eczematous skin
carcinoma cells in epidermis
usually high-grade or comedo type
Lobar carcinoma in situ (LCIS)
45-55yo mostly multicentric and/or bilateral rarely calcified, does not form mass or density marker of risk for carcinoma tamoxifen followup
Invasive breast carcinoma
palpable mass, dimpling of skin, retraction of nipple, calcifications
most in upper outer quadrant
ductal, lobular, or medullary
Molecular subtypes: Luminal A,B, HER2, Basal-like
Invasive ductal carcinoma
majority of carcinomas
well to poorly differentiated, worst
stellate morphology, firm fibrous, glandular cells
usually assoc with DCIS
most express ER/PR, some express Her2/Neu
Invasive lobular carcinoma
more often multicentric and bilateral
postmenopausal
orderly rows of cells, targetoid, signet ring
E-cadherin negative
hard tumor, irregular borders, no distinct margin
Medullary carcinoma of breast
younger ages, rare BRCA1 better prognosis, rarely metastasize Her2, ER/PR negative oval circumscribed mass, soft, fleshy syncytial growth pattern, lymphoplasmacytic infiltrate
Tubular carcinoma
40syo multifocal sometimes periphery of breast, excellent prognosis some axillary metastasis small, stellate
Colloid (mucinous) carcinoma of breast
postmenopausal slow growing mass, good prognosis some axillary metastasis well-circumscribed, soft, pale blue tumor cell and nests in pools of mucin
Inflammatory carcinoma of breast
clinical diagnosis skin erythema, peau d'orange differentiate from acute mastitis thickening of skin, diffuse induration of parenchyma bad prognosis lymphatic emboli
Male breast carcinoma
rare
BRCA2 assoc
palpable subareolar mass, nipple discharge common, axillary lymph involvement
Gynecomastia
breasts in men
from hyperestrogen
klinefelter, cirrhosis, alcohol, anabolic steroids, testicular tumor, marijuana, drugs
Criteria for high risk for familial breast cancer
3-2-1
3 fam members w breast ca any age
2 fam members with one less than 50yo
1 fam member with ovarian ca
