ULTRASOUND MARKER OF

CHROMOSOMAL ANOMALY IN
FIRST TRIMESTER PREGNANCY
Johanes C. Mose
Dept. Obstet Gynecol Faculty
of Medicine
Padjadjaran University
Bandung

 First Trimester Detection of

Congenital Anomalies
- Early Sonographic Markers
- Common Chromosomal
Anomalies
Second Trimester Detection of
Congenital Anomalies

First trimester detection

of fetal anomalies

Nuchal
translucency
Subcutaneous edema 10-14 weeks

Nuchal
translucency

NASAL BONE

Absent nasal bone, Amniocentesis : Trisomy 21

Absent 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%