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23 Cards in this Set

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Common ultrasound findings for:
Trisomy 21
Ventriculomegaly,
brachycephaly,
nuchal thickening,
Cadiac defect (AV canal),
duodenal atresia,
echogenic bowel,
renal pyelectasis,
shortened femur/humerous,
clinodacytyly of the 5th digit,
sandalfoot
Common ultrasound findings for:
Trisomy 18
CNS (agenesis of the CC, meningomyelocele, ventriculomegaly)
cystic hygroma
cardiac anom
Congen diaphragmatic hernia
omphalocele
clenched hands with overlapping digits
IUGR with polyhydram
Common ultrasound findings for:
Trisomy 13
CNS (holoprosencephaly, agenesis of theCC, menigomyelocele, microceph)
cleft lip/palate, midface hypoplasia, cyclopia, micropthalmia
nuchal thickening
cardiac anomalies
omphalocele
echogenic bowel
echogenic kidneys
radial aplasia
polydactyly
Common ultrasound findings for:
Turner
cystic hygroma
cardiac defects (coarc)
horseshoe kidney
hydrops
Common ultrasound findings for:
Triploidy
CNS (holoprosencephaly, agenesis of the CC, Dandy Walker malform)
hypertelorism
micrognathia
syndactyly 3rd/4th fingers
Cardiac defects
Omphalocele
early onset IUGR affecting skeleton more than head
Placental abnl-enlarged or small and calcified
Aneuploidy risks associated with:
CYSTIC HYGROMA
Risk (%)
Most Common
>50%
45X
Aneuploidy risks associated with:
HYDROPS
Risk (%)
Most Common
>50%
13, 21,18, 45X
Aneuploidy risks associated with:
HOLOPROSENCEPHALY
Risk (%)
Most Common
50%
13, 18, 18p-
Aneuploidy risks associated with:
COMPLETE AV CANAL
Risk (%)
Most Common
40%
21
Aneuploidy risks associated with:
OMPHALOCELE
Risk (%)
Most Common
30%
13, 18
Aneuploidy risks associated with:
DUODENAL ATRESIA
Risk (%)
Most Common
30%
21
Aneuploidy risks associated with:
BLADDER OUTLET OBSTRUCTION
Risk (%)
Most Common
20%

13, 18
Aneuploidy risks associated with:
HYDROCEPHALY/VENTRICULOMEGALY
Risk (%)
Most Common
10%

21, 13, 18, TRIPLOIDY
Aneuploidy risks associated with:
CARDIAC DEFECTS
Risk (%)
Most Common
10%

21, 18, 13, 22-, 8, 9
Aneuploidy risks associated with:
MENIGOMYELOCELES
Risk (%)
Most Common
7%

18
Aneuploidy risks associated with:
ANECEPHALY
Risk (%)
Most Common
2%

--
Aneuploidy risks associated with:
ENCEPHALOCELE
Risk (%)
Most Common
10%

---
Aneuploidy risks associated with:
LIMB REDUCTION
Risk (%)
Most Common
8%

18
Aneuploidy risks associated with:
CLUB FOOT
Risk (%)
Most Common
6%

47,XXY; 47,XXX; 18; 21
Aneuploidy risks associated with:
FACIAL CLEFTS
Risk (%)
Most Common
1%

13, 18, 22q-
Aneuploidy risks associated with:
GASTROSCHISIS
Risk (%)
Most Common
Minimal (provided it can be differentiated from omphalocele)
--
Aneuploidy risks associated with:
HYDRAENCEPHALY
Risk (%)
Most Common
Minimal

--
Aneuploidy risks associated with:
SINGLE UMBILICAL ARTERY
Risk (%)
Most Common
Minimal
--