CM 4

Question 1

Trisomy 21 vs 18 vs 13

Answer 1

AA instability, VSD, duo atresia, hypothy/DM, celiac vs prominent occipit, rock bottom feet, choroid plexus cyst, overlapped fingers/clenched fist, renal malform vs midline defects, holoprosencephaly, aplasia cutis congenita

Question 2

22q11.2 microdeletion sxs vs associations. inheritance vs dx vs tx

Answer 2

cardiac/conotruncal defects, abnl faclal features, thymic hypoplasia, cleft palate, hypocalcemia sz vs coloboma, heart defect, choanal atresia, retard growth & intellectual disability, genital hypoplasia, ear anomalies/deaf. auto dom vs FISH vs thymic or bone marrow transplant, surg

Question 3

complications of Kline

Answer 3

gynecomastia/brca, osteoporosis, hypogonad (low testost/viable sperm), T2DM, autoimmune

Question 4

complications of Turners

Answer 4

bicuspid aortic valve, coarct aorta, aortic dissect, horseshoe kidneys (get echo/MRI & renal US), acq hypothy, strabismus

Question 5

Fragile X syndrome

Answer 5

X linked dominant CGG in FMR/P -> tall, macroorchidism, joint lax, hip dislocations, mitral valve prolapse -> echo, intellectual disability

Question 6

Prader Willi vs Angelman

Answer 6

lack dad chrm 15 -> defic small nuclear ribonucleprotein -> hypotonia, poor feed/fail to thrive, hyperphagia, hypogonad, hypopig -> supportive, chol screen vs lack mom chrm 15 -> defic in ubiquitin-protein ligase E3A -> happy, ataxic, proganthism, sz -> speech therapy, neuro referral

Question 7

why does GDM happen? risk factors?

Answer 7

insulin resistance (GH, cortisol, plac lactogen, progest), dec exer/inc calories, inc fat deposits, AMA. 1o relative w/ DM, glucosuria 1st visit, >110% wt, BMI >30, PCOS

Question 8

risks to mom vs offspring for GDM

Answer 8

poly, macrosomia, preecl/GHTN vs neonatal hypoglycemia, macrosomia, hyperbili, hypertrophic cardiomyopathy

Question 9

risk factors of LGA vs SGA

Answer 9

GDM, male. macrosomia, dystocia, c/s, clavicle fx vs preecl/HTN, female, intraut/viral infxn. asphyxia, acidemia, intol to labor, death

Question 10

when to give rhogam? complications of not giving rhogam?

Answer 10

28wks, post delivery if baby rh+; after invasive procedures, miscarriage/ectopic, abd trauma, bleed in preg. hydrops, erythroblast fetalis, pulm hem/restrictive lung dz, CHF, kernicterus

Question 11

dx vs tx vs complications vs prevention endometritis

Answer 11

2 of following: pain, purulent ut d/c, fever, org on cx vs IV clinda + gentamicin (+amp for GBS & enterococcus) vs septic shock, pelvic abscess vs IV amp + emycin x2d and oral amox + emycin x5d for prophylaxis for PPROM; GBS prophylaxis; ceph if planned c/s, ceph + azith if c/s after labor

Question 12

what to do in OB hem (not the 4 T’s stuff)? how to tx cord prolapse?

Answer 12

get help, raise legs, 2 lg bore IVs for tranfuse, O2, Foley, go to OR; 2nd surgeon, intensivist, blood products. manually lift baby off cord, trendelenburg, tocolytics, c/s

Question 13

how to tx mastitis (lec 45) in lactating women?

Answer 13

bedrest, ibuprofen, dicloxacillin; distinguish from plugged duct

Question 14

when to do br MRI per Brooks? what about SCREENING br MRI?

Answer 14

surg planning, recurrence in implant/dense/scarred, residual ca w/ pos margins, D/LCIS, occult brca w/ axillary adenoca. carriers/1st deg relative w/ TP53/PTEN/BRCA/1/2, BRCA1/2, lifetime risk >20%, chest rads b/w 10-30yo

Question 15

how to tx inflam brca vs 3x neg brca vs BRCA pos dz per Brooks

Answer 15

chemo -> surg, rads, antiHER2 vs immunotherapy vs PARP inhibitors

Question 16

CI to HRT

Answer 16

undxed ut bleed, endometrial ca, preg; stroke/MI, DVT/PE, liver dysfxn