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Ultrasound Marker of Chromosomal Anomaly in First Trimester Pregnancy
Ultrasound Marker of Chromosomal Anomaly in First Trimester Pregnancy
CHROMOSOMAL ANOMALY IN
FIRST TRIMESTER PREGNANCY
Johanes C. Mose
Dept. Obstet Gynecol Faculty
of Medicine
Padjadjaran University
Bandung
Nuchal
translucency
Subcutaneous edema 10-14 weeks
Nuchal
translucency
NASAL BONE
Ultrasonography
for chromosomal
anomaly
1) Structural anomalies
2) Markers for
chromosomal anomalies
- mainly Trisomies 21, 18 & 13
Common
Chromosomal
Anomalies
Trisomy 21
Trisomy 18
Trisomy 13
Triploidy
Turners
Markers of
Trisomy 21
SKULL / BRAIN
brachycephaly
15%
ventriculomegaly 16%
choroid plexus cysts
enlarged cisterna magna
8%
7%
Markers of
Trisomy 21
NECK
nuchal edema
38%
CHEST
cardiac abnormality 26%
Markers of
Trisomy 21
ABDOMEN
duodenal atresia 8%
absent stomach 3%
mild hydronephrosis
30%
other renal problems 7%
Markers of
Trisomy 21
OTHERS
hydrops
SGA
short femur
abnormal hands / feet
talipes
20%
20%
28%
25%
3%
Markers of
Trisomy 18
SKULL / BRAIN
strawberry-shaped head
54%
brachycephaly 29%
ventriculomegaly
14%
holoprosencephaly
3%
CPC 47%
absent corpus callosum
7%
posterior fossa cyst 10%
enlarged cisterna magna 16%
Markers of
Trisomy 18
FACE / NECK
facial cleft
10%
micrognathia
53%
nuchal edema
5%
cystic hygroma
2%
CHEST
cardiac abnormalities
diaphragmatic hernia
52%
10%
Markers of
Trisomy 18
ABDOMEN
omphalocoele 30%
absent stomach
20%
mild hydronephrosis
16%
Markers of
Trisomy 18
OTHERS
hydrops
4%
SGA 61%
short femur
25%
abnormal hands / feet12%
talipes
30%
Markers of
Trisomy 13
SKULL / BRAIN
brachycephaly 26%
ventriculomegaly
9%
microcephaly
24%
holoprosencephaly
39%
CPC
2%
posterior fossa cyst 15%
enlarged cisterna magna 25%
Markers of
Trisomy 13
FACE / NECK
39%
facial cleft
microngathia 9%
22%
nuchal oedema
CHEST
diaphragmatic hernia
cardiac abnormality
6%
43%
Markers of
Trisomy 13
ABDOMEN
omphalocoele
17%
mild hydronephrosis
37%
other renal abnormalities
24%
Markers of
Trisomy 13
OTHERS
hydrops 7%
SGA 61%
relatively short femur 9%
abnormal hands / feet 52%
talipes
11%