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OBGYN Clerkship > Prenatal diseases > Flashcards

Prenatal diseases Flashcards

1
Q 
Embrogenesis: WHat is happening at each week:
Week 0
Week 1
Week 2
Week 3
Weeks 3-8
Week 4
Week 8
A

Week 0 : fertilization, cell division (blastula → morula → blastocyst)
Week 1: implantation + β-HCG secretion
Week 2: bilaminar disc (epiblast + hypoblast)
Week 3: gastrulation (3 tissues), neurulation
Week 3-8: organogenesis (most susceptible to teratogens)
Week 4: heart (4 chambers), limbs (4 limbs)
Week 8: fetus

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2
Q

What does each layer become:
endoderm
mesoderm
ectoerm

A

endoderm = GI and respiratory systems

mesoderm: CV, MSK, GU
ectoderm: CNS, skin

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3
Q

when does neural tube close

A

4 wks

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4
Q

what can cause the defective neural tube closure?

A

folate def

mutation methyl-THF-reductase

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5
Q

↑αFP, confirm U/S shows lemon sign (concave frontal bones) and banana sign (flat caudal cerebellum)

A

myeloneningocele

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6
Q

asx lumbar tuft of hair

A

spina bifida occulta

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7
Q

calcification of papillary muscle on U/S

A

echogenic intracardiac focus (EIF), usually insignificant

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8
Q

presentation of R to L shunts vs L to R shunts

A

R to L have early cyanosis

L to R have late cyanosis (dev PAH = eisenmerger syndrme)

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9
Q

What are the R to L shunts? L to R?

A

R to L = TOF, transposition great vessels

L to R = ASD, VSD, PDA

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10
Q

cardiac defect often seen with Congenital Rubella Syndrome

A

PDA

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11
Q

presents as low-grade systolic murmur, fixed S2, and frequent colds

A

ASD

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12
Q

presents as pansystolic harsh-sounding murmur with failure to thrive

A

VSD

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13
Q

presents as cyanosis and clubbing in a 5 y/o child who squats for relief;

A

TOF

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14
Q

prognosis of TOF determined by

A

degress of pulmonic stenosis

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15
Q

What is pathophys of Potter’s sequence

A

failure of mesonephros and metanephros to meet at ureteropelvic junction → bilateral renal agenesis → anhydramnios (no amniotic fluid) → pulmonary hypoplasia + limb contractures

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16
Q

How is potters seq diagnosed?

A

U/S shows anhydramnios or oligohydramnios (AFI <5)

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17
Q

treatment for potters seq?

A

none

18
Q

insert needle transabdominally into uterus

and withdraw amniotic fluid

A

amniocentesis

19
Q

insert catheter into intrauterine cavity and

aspirate chorionic villi from placenta

A

chorionic blood sampling (CVS)

20
Q

insert needle transabdominally into uterus

and withdraw umbilical cord blood

A

percutaneous umbilical blood sampling

21
Q

what prenatal sampling metho is best for rapid karyotype analysis of fetus

A

percutaneous umbilical blood sampling (PUBS)

22
Q

amniocentesis or chorionic blood sampling assc with greater risk of PROM, PTL, and injury

A

chorionic blood sampling (CVS)

23
Q

what prenatal sampling technique is best in 1st trimester

A

chorionic blood sampling (CVS)

24
Q

how is CF diagnosed prenatally?

A

screen mom and dad for ΔF508/G542X, and confirm with fetal dx

25
Q

How is sickle cell dz diagnosed prenatal?

A

screen mom w/ Hb electrophoresis, then dad if positive, then confirm w/ fetal dx

26
Q

mutation assc with tay sachs

A

AR ΔHexA → ganglioside accumulation →progressive neurodegeneration, developmental delay, “cherry red spot” on macula, onion-skin lysosomes

27
Q

Beta thal vs alpha thal mutations

A

beta = AR deletion in Beta chain = inc alpha:beta hgb ratio

alpha: cummulative deletions in alpha chain = dec alpha:beta ratio!
Silent carrier: 1-2 gene deletion; asx
HbH disease: 3 gene deletion → ↑HbH (β4) → severe microcytic anemia
Barts disease: 4 gene deletion → ↑HbBarts (γ4) → hydrops fetalis (IUFD)

28
Q

how are thalasemmias diagnosed?

A

screen w/ CBC, if microcytic anemia then confirm w/ Hb electrophoresis

29
Q

trisomy 21

A

down

30
Q

trisomy 13

A

patau

31
Q

trisomy 18

A

edwards

32
Q

45, Xo

A

turners

Coarctation of aorta
Lymphedema
Ovarian dysgenesis
Webbed neck (cystic hygroma)
Nipples spread (shield chest)
Short stature
33
Q

47, XXY

A

klienfleters

female traits on a man (long legs, gyno, highpitched
voice, female habitus, etc.)

34
Q

5p-

A

cri-du-chat syndrome

microcephaly, cardiac problems, high-pitched
meowing, epicanthal folds, MR

35
Q

7q-

A

williams

Elfin facies, Extreme friendliness w/ strangers,
well-developed English, MR

36
Q

22q11

A

Digeorge

Cleft palate
Abnormal facies
Thymic aplasia
Cardiac defects
Hypocalcemia
37
Q

diagnosed with quad screen at 15-20 wk (↑β-HCG, ↑inhibin,
↓αFP, ↓estriol) + nuchal translucency on
U/S ;

A

downs

38
Q

diagnosed with triple screen (↓β-HCG, ↓αFP, ↓estriol)

A

edwards

39
Q

trisomy found on routine US

A

patau

40
Q

cleft lip/Palate, holoProsencephaly, Polydactyly,

rocker-bottom feet, MR; death by 1 y/o

A

patau

41
Q

micrognathia, clenched hands, rocker-bottom

feet, MR; death by 1 y/o

A

edwards

OBGYN Clerkship (31 decks)

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