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DUTEC 180 > Test 4 > Flashcards

Test 4 Flashcards

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1
Q

skeletal dysplasia definition

A

abnormal growth and density

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2
Q

what occurs secondary to skeletal displasia

A

dwarfism

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3
Q

what should you assess in potential SD 7+

A

limb shortening - measure long bones
contour - thickness, bowing fractures
degree of ossification - hypomeneralization/decreased echogenicity
thoracic circumference/shape - narrow, bell shaped
hand and foot anomalies - talipses, polydactyly
face and profile - cleft, bossing, micrognathia, hypertelorism
other anomalies - hydrocephalus/hydrops/heart defect

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4
Q

SD terms 3

A

rhizomelia
mesomelia
micromelia

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5
Q

rhizomelia

A

shortening of proximal bone (humerus, femur)

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6
Q

mesomelia

A

shortening of middle segment (R/U/T/F)

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7
Q

micromelia

A

shortening of entire extremity

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8
Q

most common form of lethal SD

A

thanatophoric dysplasia

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9
Q

meaning of thanatophoric dysplasia

A

death bearing

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10
Q

type 1 thanatophoric dysplasia 2

A

cured, short femurs

flat vertebral bodies

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11
Q

type 2 thanatophoric dusplasia 3

A

straight, short femurs
flat vertebral bodies
cloverleaf skull

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12
Q

US findings of thanatophoric dysplasia 10

A 
severe micromelia
cloverleaf skull
narrow thorax
short ribs
protuberant abdomen
hypertelorism
flat vertebral bodies
poly
hydrocephalus
hydrops
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13
Q

most common nonlethal SD

A

achondrophlasia

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14
Q

cause of achondroplasia 4+-

A

decreased endochondrial bone formation due to
spontaneous mutation or
autosomal recessive
advanced paternal age

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15
Q

types of achondroplasia

A

heterozygous and homozygous

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16
Q

heterozygous achondroplasia “prognosis/outcome”

A

good survival
normal intelligence
may require orthopedic/neurologic surgery

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17
Q

homozygous achondroplasia prognosis/outcome 2+

A

lethal
25% of offspring of achondroplasia parents
US findings more severe (narrow thorax/pulmonary hypoplasia)

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18
Q

US findings of achondroplasia 9

A 
rhizomelia with normal ossification
no fractures
progressive macrocephally
frontal bossing
depressed nasal bridge
upturned nasal tip
trident hands - short fingers
normal to bell shaped chest
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19
Q

achondrogenesis prognosis

A

rare, lethal SD due to failure of cartolagious matric formation

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20
Q

achondrogenesis result

A

abnormal bone formation and hypomineralization

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21
Q

achondrogenesis types

A

Type 1 A&B - severe, autosomal recessive

Type 2 - less severe, spontanous

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22
Q

Type 1A achondrogenesis 4

A

most severe
poorly ossified skull
unossified spine
short ribs with fractures

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23
Q

type 1B achondrogenesis 3

A

poorly ossified skull
no rib fractures
posterior peduncles of spine may be ossified

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24
Q

type 2 achondrogenesis 2

A

normal skull ossification

poorly ossified spine

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25
US findings of achondrogenesis 12
``` severe micromelia decreased or unossified spine macrocephaly short trunk short thorax short ribs with fractures small thorax protuberant abdomen micrognathia poly hydrops cystic hygroma ```
26
key finding of achondrogenesis
decreased/absent ossification of spine
27
osteogenesis imperfecta
heterogenous group of connective tissue disorders presenting with osteoporosis and fractures
28
T or F osteogenesis imperfecta is mostly autosomal dominant
true
29
2 subtypes of osteogenesis imperfecta
phenotypes with mild/moderate severity (1,4,5) | phenotypes with progressive deforming/lethal (2,3)
30
best diagnostic clue for osteogenesis imperfecta
presence of fractures
31
US findings with osteogenesis imperfecta
``` 1extremities: long bones shortened/angled callus formation - crumpled appearance decreased mineralization 2 chest: multiple rib fractures narrow thorax 3 brain: poorly mineralized - seen too well skull deformation with pressure ```
32
prognosis of OI 7
``` no benefit from C/S physical therapy hearing loss blue/gray sclera shortened lifespan lethal risk of bruising/fractures ```
33
short rib polydactyly syndrome prognosis
neonatal and infantile dealths due to pulmonary ypoplasia 70%
34
classical triad of short rib polydactyly
micromelia short horizontal ribs polydactyly
35
T or F short rip polydactyly is autosomal recessive
true
36
US findings of short rib polydactyly 10
``` increased NT midline facial cleft cystic renal dysplasia poly cardiac defect cloacal abnormalities imperforated anus ambiguous genitalia CNS abnormalities hydrops ```
37
decreased fetal movement is caused by 6
``` oligo multiples congenital uterine anomalies fetal nerves connective tissue masculature ```
38
abnormal movements can lead to _____ and ______
abnormal contractures and postural deformoties
39
arthrogryposis multiplex congenita
severe contractures of extremities because of abnormal innervation, muscles and connective tissue due to lack of movement
40
causes of arthrogryposis multiplex congenita 2
sporadic or inherited
41
best diagnostic clue for arthrogryposis multiplex congenita 2
lack of extremity motion | persistent unusual or abnormal posturing of limbs (club feet and clenched hands)
42
US findings of arthrogryposis 10+
``` only truncal movement in severe clubfeet rockerbottom feet crossed legs entended elbows lack of facial movement (open mouth, no swallowing, micrognathia) poly pulmonary hypoplasia short umbilical cord hydrops ```
43
syndactyly
fused digits
44
prognosis for syndactyly
good if non syndromal
45
extrodactyly
spit hand/foot - lobster claw deformity
46
cause of missing digits
amniotic band syndrome
47
polydactyly
too many digits
48
clenched hands associations 4
aneuploidy syndromes neurologic impairment t18
49
radial ray aplasia
absent radius resulting in club hand
50
associations with radial ray aplasia 4
vacterl holt-oram syndrome trisomy 18 13q deletion
51
prognosis for radial ray aplasia
depends on cause | isolated vs. syndromic
52
best diagnostic clue for radial ray aplasia 2
single forearm bone | radial deviation of hand (club)
53
US findings of radial ray aplasia
``` single forearm bone club unilateral or bilateral +- absent or hypoplastic thumb other anomalies ```
54
recommendation of radial ray aplasia
fetal echo
55
talipes equinovarus
clubfoot
56
predominance of feet deformities - club (male vs female)
male
57
prognosis of feet deformities
good if isolated or idiopathic
58
US findings of clubfoot 3
coronal tib/fib view showing toes 1/3 other abnormalities (spina bifida, muscoloskeletal, neurologic) chronic, severe oligo
59
most common abnormality with clubfoot
spina bifida
60
rocker bottom foot
prominent heel and convex sole
61
associations with rocker bottom foot 2
syndroms and chromosomal abnormalities (t18)
62
T21 causes and percentage
AMA - 35% of t21 | translocation - 5%
63
how is t21 detected and accuracy
cell free dna 99.2% in high risk NT + markers - 95%
64
true diagnostic test for t21 prenatally
CVS/amnio
65
Down's serum screening 5
``` increased hCG increased inhibin decreased PAPP-A decreased AFP decreased estriol ```
66
2nd tri t21 markers 7
``` increased NF >/=5 short long bones echogenic bowel EIF renal pyelectasis >/= 4mm mild ventriculomegaly 10-12mm absent/hypoplastic nasal bone ```
67
major t21 anomalies 8
``` AVSD VSD ToF duodenal atresia esophageal atresia omphalocele ventriculomegaly Holo ```
68
t18 name
edwards syndrome
69
t18 prognosis
lethal
70
t18 survival rate
1/2 IUFD 20% of live births survive >1month 5-10% survive beyond 1 year
71
t18 surviving presentation
mental retardation hypotonia feeding difficulties
72
t18 serum screening 5
``` decreased PAPP-A decreased hCG decreased AFP decreased Estriol decreased inhibin ```
73
t18 markers
choroid plexus cyst >10mm strawberry shaped calvarium single umbilical artery/2 vessel cord NF >5mm
74
t18 anomalies 12
``` cardiac defect - 90% MSK anomalies - 75% IUGR - 50% hydronephrosis brain anomalies - 30% facial anomalies cystic hygroma - 20% GI anomalies - 20% spina bifida - 12% abnormal placenta umbilical cord cysts poly ```
75
MSK anomalies associated with t18 5
``` clubbed feet rockerbottom foot clenched hands overlapping fingers arthrogryposis ```
76
IUGR in t18
symmetric
77
brain anomalies with t18 4
dandy walker cerebellar hypoplasia agenesis CC ventriculomegaly
78
facial anomalies with t18 2
cleft lip/palate | micrognathia
79
gi anomalies with t18 3
omphalocele diaphragmatic hernia esophagela atresia
80
t13 name
patau syndrome
81
types of t13
75% triplicate copy 20% translocation 5% mosaic
82
risk factor for t13
AMA
83
prognosis for t13 and percentages
lethal 50% - spont. abortion/still birth 80% of liveborn die 1st day
84
t13 serum markers 4
decreased PAPP-A hCG decreased in 1st tri, normal in 2nd increased AFP increased inhibin A
85
best diagnostic clue for t13 | 1+4
``` holo + cardiac anomalies enlarged echogenic kidneys polydactyly IUGR ```
86
Anomalies seen with t13 and percentages 8
``` CNS - 70% facial - 50% cardiac - 80% renal - 50% MSK -50% GI IUGR Poly ```
87
CNS anomalies seen with t13 5
``` holo - 40-50% microcephaly cerebellar anomalies agenesis of CC ventriculomegaly ```
88
facial anomalies seen with t13
associated with holo | midline/bilateral clefts
89
MSK anomalies seen with t13
polydactyly clubfeet rockerbottom feet clenched/overlapping hands
90
GI anomaly seen with t13
omphalocele
91
turner syndrome name
monosomy x
92
prognosis for Turner's 4
75% miscarry spontaneously better prognosis for mosaic majority abort in 1st tri poor prognosis with hydrops
93
turner's syndrome survivor findings 9
``` webbed neck broad chest short limbs infertility cardiac defects normal IQ delayed motor skills hearing impairment ```
94
turner's serum markers 5
``` decreased PAPP-A increased hCG in 1st tri decreased AFP decreased Estriol inhibin A dictated by hydrops ```
95
turners 1st tri US findings
increased NT
96
turner's 2nd tri US findings 3
female fetus large septated cystic hygroma hydrops
97
landmark finding for turner's
cystic hygroma
98
US findings with turners 6
``` hygroma hydrops cardiovascular defect horseshoe kidney short bones IUGR ```
99
other name for triploidy
partial mole
100
diandry triploidy 4
paternal extra set 85% 2 sperm or diploid sperm cystic placental changes partial mole
101
digyny
maternal extra set 15% | diploid egg
102
diandry triploidy 1st tri screen
increased NT increased hCG decreased PAPP-A positive t21 screen
103
diandry triploidy 2nd tri creen
increased hCG increased AFP increased inhibin A
104
diandry triploidy increases maternal risk for ______
preeclampsia
105
US findings with diandry triploidy 3
hydropic/cystic placenta symmetric IUGR theca lutein cysts on ovaries
106
digyny triploidy 1st tri screen 4
normal NT decreased hCG decreased PAPP-A positive t18/t13 screen
107
digyny triploidy 2nd tri screen 3
decreased hCG decreased AFP decreased estriol
108
US findings in digyny triploidy
normal/small placenta | asymmetric IUGR
109
triploidy US findings
``` CNS - 60% cardiac defects - 42% face/neck MSK GI genitourinary SUA oligo ```
110
chromosome abnormalities incidence
1/160 live births
111
T21 live birth incidence
1/700 | SAB in 1st tri - 1/300
112
t18 live birth incidence
1/6000
113
t13 live birth incidence
1/10000
114
when is prevalence of aneuploidy the highest
1st tri
115
normal CRL
45-84mm at 11-14 weeks
116
increased NT measurements at risk for 4
aneuploidy major structural abnormalities immature lymphatic system adverse pregnancy outcome
117
1st tri screening 4+2
NT+CRL+maternal age serum markers: PAPP-A hCG
118
NT alone t21 detection rate (1st tri)
70-87% | 5% false positive
119
2nd tri screening
quad test
120
quad test
AFP hCG estriol inhibin A
121
t21 detection 2nd tri
80%
122
combined 2st and 2nd tri screens 3
NT+bloodwork | 2nd blood draw in 2nd tri
123
Techniques needed for proper NT 7
``` mid sagittal spine down magnified image (head neck,, upper thorax) neutral neck amnion diff. from neckline proper placement of calip. crisp NT ```
124
normal NT
125
cystic hygroma
enlarged NT extending down entire length of fetus + septations
126
simple large NT associations 3
5x aneuploidy 12x cardiac abnormalities 6x demise
127
NT 3mm or greater 2
1/6 aneuploidy | CVS offered
128
normal waveform in ductus venosus
A wave above the baseline
129
A wave in DV below the baseline suggests
reversal at time of atrial contraction - risk of aneuploidy and cardiac malformations
130
pitfalls of DV sampling 2
interference of neighboring vessels | small vessel
131
tricuspid regurgitation association
t21
132
proper position for sample of tricuspid regurg 3
heart pointed up 0 degree doppler 3mm doppler gate over TV
133
tricuspid regurg qualification
jet at least 60cm/s for over half of systole

DUTEC 180 (6 decks)

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