Obstetric Sonography

( 1st trimester )
! Establishment of an intrauterine pregnancy
1ST TRIMESTER ULTRASOUND !

!
Identification of the number of gestation
Detection of embryonic and fetal viability

SCREENING SONOEMBRYOLOGY ! Evaluation of complicated early pregnancy :

Retrochorionic hemorrhage

AN UPDATE Anembryonic pregnancy

Incomplete or complete abortion
Molar pregnancy
! Early dating of the pregnancy :
Gestational sac diameter
Dr. WIKU ANDONOTOPO, SpOG, PhD, FMFM.
OBGYN-Fellowship Maternal Fetal Medicine (CRO) Crown
Crown--rump length
Fetal Diagnostic Centre - DEPT. OB/GYN EKAHOSPITAL,BSD-
Biparietal diameter
SERPONG, BANTEN
! Evaluation of the uterus and adnexae
DEPT. OB/GYN, Fetomaternal Unit
RSUD TANGERANG, BANTEN

Obstetric Sonography
Early dating of pregnancy
( 1st trimester )
! Transabdominal ultrasound : Gestational sac usually established by
5 weeks of amenorrhea
HCG 1800 3600 mIU / ml
! Transvaginal ultrasound : Gestational sac usually established by ! 4 6 weeks : use of GS diameter
4 weeks of amenorhea
! 8 10 weeks : use of CRL
Serum level of HCG 800 mIU/ml
mIU/ml
(most acurate dating of early pregnancy)
! Absence of an intrauterine gestational sac in conjuction with HCG value "
ectopic pregnancy ??
! 10 12 weeks : use of BPD
! Using the M-
M-mode, fetal heart motion can usually established by 7 weeks of
gestation

A 24-25-day-old (2.5 mm) embryo with

12-13 paired somites, located within the
Gross malformation may be detected in 1st amniotic sac on top of a huge yolk sac,
attached to the chorion

trimester sonogram :

! Anencephalus
! Acrania
! Hydrancephaly
! Cystic Hygroma
! Fused twins
3D power Doppler image of gestational sac during 5th
! Omphalocele week of pregnancy showing heart beat of the embryo

! Gastroschisis
3D surface rendering of an embryo & YS at 5 weeks
 3D surface rendering demonstrates embryo
and yolk sac structure at the 6 weeks

A 43-day-old (approximately 13 mm) embryo:

fluorescent illumination makes the structures of
Yolk sac and chorion the face very distinct. 3D surface rendering from the fetus
at 8 weeks' gestation

2D ULTRASOUND COLORDOPPLER FETOSCOPY

3D ULTRASOUND 3D PD ULTRASOUND 4D ULTRASOUND

NEW SURFACE ENHANCED HIGH DEFINITION 4D IMAGING

A 43-day-old (12.5 mm) embryo implanted

within the uterus

4.0 - 5.0 mm 5-8 WEEKS

6.0 - 6.5 mm 9 - 12 WEEKS

The yolk sac appears sonographically as a round, translucent, cyst-like structure, often
located near the periphery of the gestational sac
Transitory organ, function limited on the first trimester
Kurjak A, et al., J Perinatal Med 1994
 First trimester screening
SCREENING OF FETAL CHROMOSOMAL
In 1866, Sir John Langdon Haydon Down reported ABNORMALITIES
that trisomy 21
In the early 1970s was based on advanced maternal

age
In the late 1980s : Maternal age and fetoplacental
I trimester II trimester
product
Since early 1990s : Maternal age, sonographic and
serum screening markers
In 2001, it was found that in 60-70% of fetuses with
trisomy 21 the nasal bone is not visible by ultrasound
at 11-13+6 w
! Maternal age ! Maternal age
At present, the ideal time to screen for fetal ! Serum markers ! Serum markers
chromosomal abnormalities is the first trimester of
pregnancy ! Genetic sonogram ! Genetic sonogram
This is a marked change in screening policy due to the
significant advances over the past 20 years

Crown-rump length (CRL)

The measurement of the CRL is obtained in a perfectly sagittal section.
The head must be in an intermediate position (this criterion
1/1/2002 16
limits the risk of under- or overestimation of the CRL and of fetal age).

Methods of screening
DR
Maternal age (MA) 30%
MA and fetal maternal serum at 15-18 w 50-70%
MA and fetal nuchal translucency (NT) at 11-13+6 w 70-80%
MA, fetal NT and maternal serum free B-hCG and PAPP-A at 11-13+6 w 85-90%
MA, fetal NT and fetal nasal bone (NB) at 11-13+6 w 90%
MA and fetal NT and NB and maternal serum free B-hCG and PAPP-A at 11-13+6 95%
FMF
Nicolaides, 2004
40
COUNTRIES 107 centres with
WORLDWIDE operators qualified
by the fetal medicine
foundation
 Nuchal translucency NUCHAL TRANSLUCENCY
(10th- 14th week)
Conventional measurement FMF criteria:
The technique for first trimester NT :
TAS, TVS scan
The Fetal Medicine Foundation
minimum 5 MHz probe
Combine first trimester testing : NT with serum markers caliper setting at least 0.1 mm
45 < CRL < 85mm
Pathophysiology of nuchal translucensy fetal sagittal view,
view, head and thorax
1.Cardiac failure in association with abnormalities of the heart and great arteries
2.Venous congestion in the head and neck, due to constriction of the fetal body in magnification maximal
amnion rupture sequence or superior mediastinal compression found in clear separation between
diaphragmatic hernia or the narrow chest in skeletal dysplasia fetal skin and amnion
3.Altered composition of the extracellular matrix
4.Abnormal or delayed development of the lymphatic system largest thickness
5.Failure of lymphatic drainage due to impaired fetal movements in various neutral position
neuromuscular disorders avoid the amnion and nuchal cord
6.Fetal anemia or hypoproteinemia
7.Congenital infection, acting through anemia or cardiac dysfunction. calipers ininner
ner-- to- inner
inner

NUCHAL TRANSLUCENCY NUCHAL TRANSLUCENCY

(10th- 14th week) (10th- 14th week)

Down syndrome
NT
Chromosomopathies (mm)
Congenital heart defects 3.0 95 cent.
Structural defects 2.5
Genetic syndromes 2.0
1.5
Intrathoracic compression 1.0 50 cent.
Abnormal lymphatic system 0.5
Neuromuscular abnormalities
Altered composition of dermis 20 30 40 50 60 70 80 CRL (mm)

SCREENING STUDIES FOR TRISOMY 21 BY

NUCHAL TRANSLUCENCY MEASUREMENT
Nuchal translucency
(10th-- 14th week)
(10th

FMF software, 20 multicenter studies, 1995

1995--2003
Total 200,868 patients
Successful measurement 99.8%

Cut-off False positives T21 detection rate

NT >95th 4,2% 76,8% ( 71-90,9% )

? Nicolaides, 2004

Nicolaides,, AJOG, 2004,191:45-

Nicolaides 2004,191:45-67
 Nuchal translucency Nuchal translucency

Nicolaides, 2004

Nicolaides, 2004

B hCG PAPP-A SKULL & BRAIN

Developing brain and spinal cord during pregnancy

mb CH
IV CH
C
C CH
M D
M
C
f
C

SC SC

GA 8w GA 10w GA 16w GA 32w

Nicolaides, 2004

Fetal central nervous system changes in size and appearance from early premature structure
into late mature structure with gyral formation.
CH; cerebral hemisphere, C; cerebellum, D; diencephalon, M; medulla, SC; spinal cord, f;
forebrain, mb; midbrain, IV; fourth ventricle

Normal anatomical development of the ventricular system in the brain using 3D

inversion rendering from 8 to 11 weeks

H M

F
 Normal 8 weeks Fetus (mid sagittal section)

H M

9 weeks

14 weeks

11 weeks 14 weeks

Midline brain structures:

On a sagittal section, the following
midline brain cavities can be seen:
diencephalon (1)
Regular skull The coronal suture (CS) Choroid plexuses Cavum septum pellucidum mesencephalon (2)
metencephalon (3)
myelencephalon (4)

The thalami should not be fused Thalami, the choroid plexuses lie superior to them

Cerebellum

Mesencephalic vesicle, located posterior to the thalami

Coronal section of thalami Fourth ventricle
 FACE
The orbits are readily observed but their
Circle of Willis and the middle presence does not exclude anophtalmia (empty
cerebral arteries (MCA): orbits).
To confirm the existence of
both ocular globes, it is necessary to
demonstrate the two lenses
ACA = anterior cerebral artery
MCA = middle cerebral artery
CA ant = anterior communicating
The ears appear as echogenic appendages
artery located on either
CA post = posterior communicating side of the skull directed outward and
artery backward
PCA = posterior cerebral artery

The mouth and lips are quite difficult to see at

Coronal view of both middle cerebral this gestational age
arteries.

PATTERN OF MALFORMATIONS IN THE AXIAL

NASAL BONE
SKELETON IN TRISOMY 21 FETUSES

1. Malformation or agenesis of the nasal bone in

19/31 (61%) of trisomy 21 fetuses
2. 19
19// 31 fetuses had vertebral malformations ((14
14
in the cervical, 4 in the thoracic and 8 in the
lumbosacral region)
Nasal bones are formed by intramembranous 3. In 1/31 malformation in the basilar part of the
ossification of connective tissue of the nasal capsule occipital bone
Ossification of nasal bones first appears at a Post- mortem radiographic study of the axial skeleton,
CRL of 42 mm and increases linearly with gestation. comprising the cranial base and the spine, in 31 fetuses with
Trisomy 21 at 12 24 weeks
Sandikciouglu, J Craniofac Genet Dev Biol 1993 Keeling, 1997

PATTERN OF MALFORMATIONS IN THE AXIAL

SKELETON IN HUMAN TRISOMY 18 FETUSES NOGRAPHY OF NASAL BONE Gestation 11-
ULTRASONOGRAPHY
ULTRASO 11-14 wks
CRL 45-
45-85 mm
Size: caliper movement 0.1 mm
Mid
Mid--sagital view
1. In 10/10 fetuses malformation in the basilar First line: nasal skin

part of the occipital bone Second line: hyperechoic bone

2. Absent or hypoplastic the nasal bone in 8/10 Third line: cartilaginous tip

(80
80%)
%) of trisomy 18 fetuses
3. 7/ 10 fetuses had vertebral malformations
(in the thoracic and in the lumbosacral region)

Post- mortem radiographic study of the axial skeleton,

comprising the cranial base and the spine, in 10 fetuses with
Trisomy 18
Keeling, 1996
 NASAL BONE
maximal echogenicity
FRONTAL IMPORTANT !
BONE
SKIN CARTILAGINOUS ANGLE OF INSONATION
TIP OF THE NOSE

45-500
45- YES
ORBIT NO
ZYGOMATIC
BONE
900

Nasal bone
ULTRASONOGRAPHY
ULTRASO NOGRAPHY OF NASAL BONE
The true mid sagittal view

GAIN REDUCING

Nicolaides, 2004

The face is flat. ULTRASONOGRAPHY

ULTRASO NOGRAPHY OF NASAL BONE
 Lancet. 2001 Ultrasound Obstet Gynecol.
Related Articles, Links Related Articles, Links
Nov 17;358(9294):1665-7. 2003 Jan;21(1):15-8.

Absence of nasal bone in fetuses with trisomy 21 at 11-

11-14
weeks of gestation: an observational study. Nasal bone hypoplasia in trisomy 21 at 15
15--22
Cicero S, Curcio P, Papageorghiou A, Sonek J, Nicolaides K. weeks' gestation.
Cicero S, Sonek JD, McKenna DS, Croom CS, Johnson L,
Nicolaides KH.

nasal bone absent in 43/59 (73%) trisomy 21fetuses Hypoplastic = nonvisible or shorter than 2,5mm
Hypoplastic nasal bone in 21/34 (61,8%) trisomy 21 fetuses
nasal bone absent in 3/603 (0,5%) normal fetuses Hypoplastic nasal bone in 12/982 (1,2%) normal fetuses
Hypoplastic nasal bone in 1/30 ( 3,3%) fetuses with other
chromosomal defects

HEART THORAX

The lungs appear as echogenic,

homogeneous structures
located in the fetal thorax
The four-chamber view Aortic arch, descending thoracic and abdominal
aorta

The difference between lungs and

abdominal structures is seen
clearly. Note the downward
concavity of the diaphragm
The bifurcation of the right carotid

Pulmonary artery trunk coming from the right ventricle

Separation between thorax and

abdomen is also visible on a coronal
section

Axillary arteries
Left ventricle and ascending aorta

URINARY TRACT
ABDOMEN

the stomach and the superior

end of the umbilical vein Each kidney appears quite
echogenic without any
Insertion of the corticomedullary differentiation
umbilical cord

The bowel is seen in the lower

part of the abdomen, and the
liver is separated from the
lungs by the diaphragm The renal arteries are seen
originating from the abdominal
aorta
Sagittal section showing the
umbilical cord insertion with
the umbilical vein (UV),the
ductus venosus (DV), and the
origin of one of the two
umbilical arteries (UA)

The bladder appears as an

Left parasagittal section anechoic structure in the fetal
showing the lung (Lu) and the
heart (H) pelvis
EXTREMITY AXIAL SKELETON

Lower extremity

The upper arm Axial sections

The sagittal section

The thigh: Both femurs, transverse section and longitudinal section

The forearm
Coronal sections

Rib cage

Note that the five toes are shown

The leg with the tibia and fibula
Superficial plane
The hand

DUCTUS VENOSUS SCREENING DUCTUS VENOSUS SCREENING

intimal - pillow theory:

DUCTUS VENOSUS
UMBILICAL VEIN
Ductus
venosus

12 w the intimal hyperplasia

is a soft pillow for very
early haemodinamic
adaptation VENA CAVA INFERIOR

Ductus venosus
DUCTUS VENOSUS SCREENING

SAGITAL
FILTER
1. trimester 20 - 30 cm/sec
2. trimester 45 - 50 cm/sec

TRANSVERSE
 Ductus venosus
Normal Reversed a-wave

DUCTUS VENOSUS SCREENING

At 11-14 weeks abnormal ductal flow is :

5% of chromosomally normal fetuses
80% of fetuses with trisomy 21
( Nicolaides 2004 )

Tricuspid regurgitation
DUCTUS VENOSUS SCREENING:
ACV = ATRIAL CONTRACTION VELOCITY

NORMAL ABNORMAL

ACV + ACV Tricuspid regurgitation

DV and or tricuspid
FETAL DUCTUS VENOSUS ANALYSIS:
CLINICAL INDICATIONS

! Analysis of venous return and myocardial decompensation

in severe fetal hypoxia

! Abnormal venous return in congenital heart defects

! Early detection of circulatory changes associated with

increased nuchal translucency

! Second-level screening test for fetal

Second-
chromosomal abnormalities and heart defects

! TTTS vital prognosis of anemic

anemic--twin ( + MCA velocities )
 CURRENTLY AVAILABLE METHODS
THE FIRST TRIMESTER DUCTUS VENOSUS VELOCIMETRY FOR THE FIRST TRIMESTER SCREENING OF
IN RELATION TO NUCHAL TRANSLUCENCY THICKNESS:
THICKNESS: DOWN SYNDROME

NT Fetuses DV ACV + ACV

Thickness measured
SENSITIVITY

>95th centile 156 152 93 (61%) 59 (39%) ! Maternal age (MA) 33%
33%
! Biochemistry (PAPP
(PAPP--A,hCG) 60-65
65%%
<95th centile 174 173 171 (98%) 2 (1%) ! Nuchal translucency (NT) 70--75
70 75%%
! Combined (MA,
(MA,biochemistry,
biochemistry,NT) 80-85
85%%
Total 330 325 264 (81%) 61 (19%)

! Integrated (biochemistry,NT,MA,NB
(biochemistry,NT,MA,NB ) 93--94
93 94%%
DV = Ductus venosus false positive 5%
ACV+ = Presence of forward velocity during atrial contraction
ACV - = Absence or inverted forward velocity during atrial contraction
NB= nasal bone
Zoppi, Fetal Diagn Ther 2002

Nicolaides: Nicolaides:
Other sonographic markers in the first trimester, Other sonographic markers in the first trimester,
2004, AJOG 2004, AJOG

! CROWN-RUMP LENGTH
! MAXILLARY LENGTH
! EAR LENGTH
! FEMUR AND HUMERUS
LENGTH CRL
! SINGLE UMBILICAL ARTERY
! MEGACYSTIS
! EXOMPHALOS
! CHOROID PLEXUS CYST
! PYELECTASIS
! CARDIAC ECHOGENIC FOCI

Nicolaides:
Crown Rump Length Other sonographic markers in the first trimester,
2004, AJOG

In the first trimester the measurement of crown

rump length Is useful to detect this finding
Drugan et al, reported that a fetal CRL smaller more
than 7 mm indicate a three time higher risk for
chromosome abnormalities
Trisomy 18 and triploidy are associated with
moderately severe growth restriction
Trisomy 13 and Turner syndrome are associated
with mild growth restriction
Trisomy 21 growth is essentially normal
 Maxillary length
Nicolaides:
Other sonographic markers in the first trimester, At 11-13+6weeks : Mid sagittal view ( Cicero et al 2004)
2004, AJOG In chromosomally normal fetuses maxillary length increases linearly with
gestation by about 0,1 mm for each 1 mm increase
in CRL
MAXILLARY LENGTH
In the trisomy 21 fetuses, the median maxillary length is significantly below
62% the normal median for CRL by 0,7 mm
Fetuses with other chromosomal defect, there are no different significances
from normal in maxillary length.

24%

Nicolaides:
Humerus length
Other sonographic markers in the first trimester, Trisomy 21 is characterised by short stature during second
2004, AJOG trimester
At 11-13+6 weeks in trisomy 21 fetuses, the median femur and
humerus lengths are significantly below normal median for
EAR LENGTH
CRL
85%
But it is too small for these measurements to be useful in
screening ( Longo et al 2004)

6%

Nicolaides: Nicolaides:
Other sonographic markers in the first trimester, Other sonographic markers in the first trimester,
2004, AJOG 2004, AJOG

FEMUR LENGTH HUMERUS LENGTH

9% 5%
 Heart rate
Fetal heart rate
100 beats per minute at 6 weeks
160-170 beats per minute at 9 weeks
! Early increase in heart rate coincides 150 beats per minute at 14 weeks
with the morphological development Trisomy 13 and Turner : Tachycardia
of the heart Trisomy 18 and triploidy : Bradycardia

5 weeks - 100 beats/min

10 weeks - 170 beats/min
14 weeks - 155 beats/min

(A.W. Liao et col, 2000)

Umbilical cord diameter Single umbilical artery

! SUA in 1% of deliveries
Easy identification in late 1st trimester ( 10-14 weeks )
An increase diameter (the 95th centile ) is more frequent among abnormal ! 717 fetuses

karyotype fetuses than in normal fetuses
Ghezzi et al : 784 cases with CRL of 45-85 mm
! 3.3% normal cariotype
17 cases chromosomal abnormal ! 77
77..8% trisomy 18
Trisomy 21 : The extracellular matrix of nuchal skin is much richer in
glucosaminenoglycans, especially hyaluronan, compared with chromosomally
normal
Trisomy 18 : The distribution and organization of collagen types I and III are
different from normal fetuses
Trisomy 13 : Most dermal fibroblasts are collagen type IV
Turner syndrome might have thicker than normal umbilical cord

Megacystis
Megacystis
! Visualization of the fetal bladder
10 weeks 50% ! 7 15mm -> 23.6% chromosomal
11 weeks 80% abnormalities (13, 18)
13 weeks 100% ! 15mm -> 11.4% chromosomal
! Normal diamete
diameter is < 6mm abnormalities
! Spontaneous resolution in normal
kariotype is 90%
! Megacystis increases the likelihood for
trisomy 13 or 18 by a factor of 6.7
 Exomphalos
Exomphalos ! Decreases with gestational age
! Increases with maternal age
! Retraction into the abdominal cavity is
completed by 11 weeks 5 days ! First trimester 61 % of trisomy
! Bowel in the sac -> abnormal kariotype ! Mid gestation 30% of trisomy
! Liver and bowel -> normal kariotype ! Neonates 15% of trisomy
! 14 cases with exomphalos
8 with abnormal NT
7 with abnormal kariotype

Choroid plexus cyst

Holoprosencephaly
At 11-14 weeks the prevalence of choroid plexus cyst was
2,2%
At 16-24 weeks : 2%
Prevalence 1: 10,000
More than 95% of cases they resolve by 26-28 weeks
Unknown
There is an association with chromosomal defect, particularly
trisomy 18 First trimester alobar holoprosencephaly :
30% : Trisomy 18 and trisomy 13
Mid-facial abnormalities

Bilateral Cystic Hygroma with diffuse edema at 13

weeks by 3D and 2D scan TTTS at 15 wks
The bilateral cystic 3D surface rendered image
and 4D view in fetuses with
masses by the neck are TTTS. The difference in size
seen. between recipient twin and
the donor (stuck) twin is
Karyotyping revealed striking with these images.
this baby as Turner
syndrome. Freely moving recipient
There is skin thickening twin is seen very clearly
wheras the donor twin
around the body . (stuck) twin cannot move
The fetus after abortion, because of severe
oligohydramnios .
note the diffuse edema.
 Thanatophoric dysplasia at 16 wks Thanatophoric dysplasia at 16 wks

3D and 2D US examination
revealed narrow chest and
severe micromelia of the 3D skeleton mode showing
limbs. short bowed femurs and
3D surface rendered images narrow chest of the fetus
of the fetus with with tahanatophoric
tahanatophoric dysplasia at dysplasia.
16 weeks of gestation. Three orthogonal plane
Note marked difference sections are diplayed
between chest and simultaneously in a fetus
abdomen. All the with tahanatophoric
extremities are clearly seen
dysplasia at 16 weeks.
to be extremely small

Thanatophoric dysplasia at 16 wks OTHERS SONOGRAPHIC MARKERS FOR

T21
4D US sequence
demonstrated
behaviour of the fetus
complicated by
thanatophoric dysplasia
at 16 weeks

hydronephrosis
hyperechogenic
intracardiac echogenic focus
bowel
At 11 +0 to 13+ 6 weeks the prevalence of intracardiac echogenic focus, hydronephrosis and
hyperechogenic bowel is higher in trisomy 21 than in
chromosomally normal fetuses.

QUIZ CASE #1

COUNSELLING
QUIZ CASE #4 Conclusion
1st trimester ultrasound markers of chromosomal abnormalities :
# NT
# NB
# Flat face
# Ductus venosus
# Tricuspid regurgitation

Fetal growth : CRL Exomphalos

Heart rate Choroid plexus cyst
Umbilical cord diameter Holoprosencephaly
Single umbilical artery Megacystis
Maxillary length
Humerus length Pyelectasis
Ear length Cardiac echogenic foci

Counselling
Karyotyping

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