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OBGYN Exam 3 > Chromosomal Abnormalities > Flashcards

Chromosomal Abnormalities Flashcards

1
Q

indications for prenatal genetic test

A

advanced maternal age
family hx
prior pregnancy
exposure
diabetes

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2
Q

aneuploidy

A

cells that contain an uneven number of chromosomes

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3
Q

trisomy

A

extra chromosome

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4
Q

monosomy

A

absent chromosome

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5
Q

triploid

A

3 sets of chromosomes

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6
Q

triploidy sono findings

A

IUGR
MCDK
hydro
ambiguous genitalia
CHD
omphalocele
CNS

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7
Q

trisomy 21 assoc. anomalies

A

duodenal atresia
dilated renal pelvis
ventriculomegaly
IUGR
CHD
cystic hydroma
esophageal atresia

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8
Q

tri 21 sono findings

A

cardiac anomalies
pulmonary hypoplasia
2 vessel cord
absent nasal bone

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9
Q

tri 13 is also called

A

patau syndrome

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10
Q

tri 13

A

high mortality rate
reduced AFP
severe cardiac, brain, spinal cord anomalies

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11
Q

tri 13 assoc. anomalies

A

CHD
CNS
craniofacial anomalies
cleft lip
renal and gi anomalies
extremity anomalies

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12
Q

tri 13 sono findings cardio

A

ASD,VSD

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13
Q

tri 13 sono findings CNS

A

holoprosencephly
agenesis of corpus callosum
microcephaly

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14
Q

tri 13 sono findings face

A

micrognathia
sloping forehead
clefts
microphthalmia

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15
Q

tri 13 sono findings renal

A

hydro
cortical cyst
horseshore kidney

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16
Q

tri 13 sono findings GI

A

omphalocele

17
Q

tri 13 sono findings skeletal

A

clenched hand
polydactyly, synactyly

18
Q

turner syndrome sono
findings

A

cystic hygroma
hydrops
renal anomalies
cardiac malformation
nuchal edema

19
Q

tri 18 assoc. anomalies

A

VSD
omphalocele
horseshoe kidney

20
Q

tri 18 sono findings

A

CNS

OBGYN Exam 3 (4 decks)

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