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First trimester scan
1. DR SHILPEN GONDALIA
MD(Obst and Gyn)
Fetal medicine
specialist
Gynec laparoscopic
surgeon
RAJKOT
18 March 2015 Dr Shilpen Gondalia
2. FIRST TRIMESTER SCREENING
Screening for T21 and other
chromosomal defects
Early anatomic evaluation
Diagnosis of multiple gestation and
defining chorionicity and amnionicity
Prediction of preeclampsia
18 March 2015 Dr Shilpen Gondalia
3. Screening for chromosomal defects
Maternal age
Nuchal translucency
Fetal heart rate
Serum Biochemistry
New Ultrasound markers
18 March 2015 Dr Shilpen Gondalia
4. Priori risk
Every women has risk of baby being
affected by chromosomal defect ,,,Priori
Risk
Priori risk is dependent on maternal age
and gestation
The Individual patient specific risk is
calculated by multiplying priori risk with
series of Likely hood ratios
18 March 2015 Dr Shilpen Gondalia
5. Likely hood ratio
LR for a given Sonographic or
Biochemical measurement is calculated
by dividing the percentage of
chromosomally abnormal fetuses with
normal fetuses with that measurement
Every time a test is carried out the priori
risk is multiplied by LR of the test to
calculate a new risk, which than
becomes priori risk for next test
18 March 2015 Dr Shilpen Gondalia
6. FIRST TRIMESTER SCAN
Shift in the thinking, From 18-20
wks to 11-14 wks
Better equipments available,
Better understanding of
Embryology
Avoid late terminations
18 March 2015 Dr Shilpen Gondalia
7. TECHNIQUE FOR NT
CRL 45-84 mm
Neutral position, away from amnion
Zoom the image such that Fetal
head and Upper thorax occupy whole
screen
Zygoma must not be seen
Take largest measurement
Transverse bar of the caliper should
be on white line.
18 March 2015 Dr Shilpen Gondalia
13. INCREASED NT
With normal karyotype,,majority
will be having normal outcome
Larger the NT worse the
prognosis
Fetal echo and detailed anatomic
evaluation is recommended
18 March 2015 Dr Shilpen Gondalia
14. INCREASED NT
COMMON in:-
Trisomy 21: Absent NB,AVSD
Trisomy 18:Omphelocele,CHD,MSK,
IUGR
Trisomy 13:Holoprosencephaly,CHD
Omphelocele
Turner(XO):Largest NT to Hydrops
CHDs:24x increased risk
Syndromes:MSK dysplasias,,,so
many
18 March 2015 Dr Shilpen Gondalia
15. CYSTIC HYGROMA AND HYDROPS
FETALIS
Cystic Hygroma: 50% Aneuploidy
T 21,,XO,,T18
Occurs in 90% of Turners
50 % Euploid: 50 % ll be having
major structural fetal malformations
Cardiac is commonest
Hydrops: Generalized subcutaneous
thickening +/- ascites effusions,A
wave reversal in DV,TR
18 March 2015 Dr Shilpen Gondalia
18. FETAL HEART RATE
In normal pregnancy,
FHR increases from
110 bpm at 5 wks to
170 at 10 wks and than
gradually decreases to
150 bpm by 14wks
18 March 2015 Dr Shilpen Gondalia
19. FHR
Trisomy 21: FHR is mildly increased and
is above 95th centile in 15% of cases
Trisomy 18: FHR is mildly decreased and
is below 5th centile in 15% of cases
Trisomy 13:FHR is markedly increased
and is above 95th centile in 85% of
fetuses
18 March 2015 Dr Shilpen Gondalia
20. SERUM BIOCHEMISTRY
Trisomic pregnancies are associated
with altered maternal serum
concentrations of feto-placental
products
Detection rate of T 21 is 90% for a
false positive rate of 3% when used
in combination with Maternal
age,NT,FHR, Free B-HCG and PAPP-A
18 March 2015 Dr Shilpen Gondalia
21. NEW ULTRASOUND MARKERS
Nasal bone
Facial angle
Ductus
venosus flow
Tricuspid
flow
18 March 2015 Dr Shilpen Gondalia
22. NASAL BONE
= SIGN BETWEEN
TIP OF THE NOSE
AND FRONTAL
BONE
18 March 2015 Dr Shilpen Gondalia
24. NASAL BONE
Acts as an independent variable
Presence of NB reduces the aneuploidy risk ~3x
Absent NB after 12 wks,CRL 65 mm,increases the
risk of aneuploidy
Occurs in 67-73% of T21,,LR 48x
Occur in 1.5% of Euploid population
18 March 2015 Dr Shilpen Gondalia
25. NASAL BONE LENGTH
It should be more than 2.5
mm @1st Trimester
More than 2.8mm at 15
wks(mean 4.7mm)
More than 5.6mm at 22
wks(mean 8.2mm)
18 March 2015 Dr Shilpen Gondalia
26. FACIAL
ANGLE
• Measured between a line along the upper
surface of palate and a line which traverses
the upper corner of anterior aspect of
maxilla extending to the external surface of
the forehead.
• This is represented by the frontal bones or
an echogenic line under the skin below the
metopic suture that is usually open at this
gestational age
18 March 2015 Dr Shilpen Gondalia
28. FACIAL ANGLE BET CRL 45-84MM
In Euploid fetuses mean facial angle decreases from
84deg to 76deg
FACIAL ANGLE IS ABOVE 95TH CENTILE
In 5% of Euploid fetuses
In 45% of fetuses with T21
In 55% of fetuses with T18
In 45% of fetuses with T13
18 March 2015 Dr Shilpen Gondalia
29. DUCTUS VENOSUS FLOW
Fetus should not be moving
Magnification of the image should be such
that Fetal thorax and abdomen occupy
whole screen
Right ventral midsagittal view should be
obtained
Color flow mapping placed to view Umbi
vein,Ductus venosus and heart
Sample gate 0.5-1mm to avoid
contamination from adjacent veins and it
should be placed on yellowish alliasing
area
18 March 2015 Dr Shilpen Gondalia
30. Criteria for DV
Angle of Insonation should be less than
30 degree
Filter should be set at 50-70Hz to allow
visualization of whole waveform
Sweep speed should be 2-3 cm/sec so
that waveforms are widely spread for
better assessment of a wave
18 March 2015 Dr Shilpen Gondalia
33. REVERSED a
WAVE
Is found in about 4% of normal
fetuses
It is associated with increased risk
for chromosomal abnormalities
Cardiac defects
Fetal death
However, in about 80% of cases
with reverse a wave the pregnancy
outcome is normal
18 March 2015 Dr Shilpen Gondalia
35. TRICUSPID
FLOW
Magnification of the image should
be such that fetal thorax occupies
the whole screen
Apical 4 chamber view of the
heart should be obtained
Sample gate 2 -3mm and
positioned across the Tricuspid
valve
Angle of Insonation less than 30
degrees with IVS
18 March 2015 Dr Shilpen Gondalia
36. CRITERIA FOR TRICUSPID FLOW
Sweep speed should be 2-
3mm/sec so that the wave forms
are widely spread
Sample volume should be placed
across the valve at least 3 times
in an attempt to interrogate the
complete valve
18 March 2015 Dr Shilpen Gondalia
40. IT a new ACRONYM FOR 2011
Intracranial translucency
or 4th ventricle
Bordered by 2 echogenic
lines, between brainstem
and choroid plexus
18 March 2015 Dr Shilpen Gondalia
42. Why IT ?
Normal fetus IT is always visible
measuring 1.5-2.5mm,parallel to NT
slightly parasagittal
Concept-Most open SB associated
with ACM
Leakage of CSF into amniotic cavity
result in hypotension in subarachnoid
space leads to caudal displacement of
brain and obliteration of cisterna
megna 4th ventricle with resultant
loss of IT
18 March 2015 Dr Shilpen Gondalia
49. POTENTIALLY DETECTABLE GROUP
Cardiac anomalies
Skeletal dysplasias
Limb amputations
Open NTDs
Renal agenesis
Facial clefts and
Diaphragmatic hernias
18 March 2015 Dr Shilpen Gondalia
51. EXENCEPHALY ANENCEPHALY SEQUENCE
Exencephaly: Defined by
Acrania/No calvarium
Exposed brain degenerates over
time due to injurious environment
Anencephaly-Brain degenerates
over time
It is commonest NTD 1/1000 ,Rec
risk of 1.9%
Maternal Serum AFP is raised
Folic acid is preventive in 70%
18 March 2015 Dr Shilpen Gondalia
53. ALOBAR HOLOPROSENCEPHALY
1/1300 Prevalence
2/3rd are Aneuploidy(T18,T13)
and 1/3rd Euploidy
10% Recurrence risk if
Aneuploidy
1% Recurrence risk if Euploidy
Check for associated genetic
conditions Pallister hall,Smith-
Lemli-Optiz,
18 March 2015 Dr Shilpen Gondalia
54. CHARACTERISTIC FEATURES
Monoventricle,Absent midline
structures, Fused Thalami
Additional features: Dorsal
sac,Displaced pan cake cortical tissue
Common facial
features:Hypotelorism, Single
orbit,Proboscis,Clefts
This should diagnosed after 10 wks
because no midline structures
developed
18 March 2015 Dr Shilpen Gondalia
58. OMPHELOCELE
> 7mm <10 wks
> 10mm >10 wks
Persists beyond 12wks
Homogenous and rounder
May contain Liver
18 March 2015 Dr Shilpen Gondalia
59. OMPHELOCELE
If only small bowel is included,association
with T18 more likely
70-90% have associated anomalies(50%
Cardiac)
Only 17% survive till Surgery due to TOP,
IUFD,Early NND
70% have increased AFP levels.
18 March 2015 Dr Shilpen Gondalia
62. GASTROSCHISIS
It is a defect of abdominal wall by
definition
Herniation free floating loops of
bowel
Not covered by membrane
Clinically, Increased incidence <25
age,substance abuse
0-3% risk of
aneuploidy(karyotyping not
recommended)
5% associated structural anomalies
18 March 2015 Dr Shilpen Gondalia
64. MEGACYSTIS
Normal bladder
We should able to visualize by 9-
10 wks
Between 2 umbilical arteries
>7mm in vertical diameter 1/3rd
Aneuploidy,T13 and T18
>15mm, all progressive
obstructive uropathy
18 March 2015 Dr Shilpen Gondalia
65. 7 to 15 mm
90% will resolve if Euploid
Can be because of Transient functional
neurogenic bladder
Delay in smooth muscle autonomic
innervation
Rescan after 2 wks and consider
karyotyping
18 March 2015 Dr Shilpen Gondalia
68. POSTERIOR URETHRAL VALVES AND EUPLOIDY
Good prognosis based on fetal urine
electrolytes
Na<100meq/L,Cl<90meq/L,Osmolarity<21
0mOsm/L
No US evidence of dysplasia
Survival rate 81% vs.12.5% poor prognosis
Shunting no longer recommended
Mortality 43% with dismal long terms fetal
outcomes
Consider only in case of severe
oligohydramnios with normal appearing
kidneys and good electrolytes
18 March 2015 Dr Shilpen Gondalia
69. KEY HOLE SIGN
Highly sensitive but no longer
considered specific for PUV
XY=PUV,,XX=Urethral atresia
1/3rd Boys with VUR may display
transient key hole sign
Bladder dysnergy
Look for thick walled and dilated
bladder
DDX:Consider VUR, Megacystic-
Microcolon-Hypoperistalsis,other
BOO,Prune belly
18 March 2015 Dr Shilpen Gondalia
71. FETAL ECHOCARDIOGRAPHY
If lie is
favourable,detection of
Cardiac defects increases
Advantage of detecting
lethal cardiac anomaly
early
18 March 2015 Dr Shilpen Gondalia
75. CONCLUSIONS
Screen and diagnosis are rapidly shifting
to first trimester
We have an ability to see more earlier
Better understanding of embryology
We still recommend follow up exam at
18-20 wks
Enormous differences in results
between different groups
Increase knowledge and standardization
18 March 2015 Dr Shilpen Gondalia