Technique and Potential Advantage of 3D/4D Ultrasound (and the

3D and the Fetal Face
Lawrence D. Platt, MD
Clinical Professor of Obstetrics and Gynecology
David Geffen School of Medicine at UCLA
Director, Center for Fetal Medicine and Women’s Ultrasound
Los Angeles, CA
42 weeks and 31 weeks
• ..\EXPORT\FIRST TRI_10.JPG
Getting the fetal profile
Surface mode of
fetus with severe
micrognathia
Various faces of
normal fetuses
Surface mode of fetal face -- achondroplasia with
frontal bossing and depression of the nasal bridge
Down
syndrome
Micrognathia
Abnormal fetal faces
Apert
syndrome
Abnormal Inferior Facial Angle
is abnormal
Predictability of Fetal Mandible
Length on Ultrasound
Fetal Mandible Measurement
• Otto and Platt demonstrated in 1991
that U/S measurement of the fetal
mandible could be used objectively to
determine fetal jaw size
– Cross-sectional study, 134 normal pts, 1439 wks GA
– Predicted mandible length plotted against
GA, BPD, HC and FL
• Resulting in 95% prediction limits
Otto C, Platt LD. Ultrasound Obstet Gynecol 1991; 1 (1): 12-17
Fetal Mandible v. GA
Otto C, Platt LD. Ultrasound Obstet Gynecol 1991; 1 (1): 13-17
Fetal Mandible vs. HC
Otto C, Platt LD. Ultrasound Obstet Gynecol 1991; 1 (1): 13-17
Profile
Evaluation of Fetal Profile
125 Cases
•
•
•
•
Orthogonal display
Abdominal transducer
True profile in 70%
Off profile by up to 3-20
degrees in 30%
Merz et al, UOG 9:237, 1997
Facial Profiles
• Aiding Genetic Diagnoses
Retrognathia/micrognathia
Landmarks of the Ear
1 – Helix
2 – Crus of helix
6 – Triangular fossa
7 – Scaphoid fossa
8 – Concha of auricle
9 – External acoustic
meatus
10 – Tragus
11 – Antitragus
12 – Intertragic notch
13 – Lobule of auricle
3 – Auricular tubercle
4 – Antihelix
5 – Crura of antihelix
Ears
Fetal Ears
Mandibulofacial dysostosis
Infant with cat-cry syndrome
(L) Trisomy 13-15. Note the sharp
angulation of the crus helicis, and
hypoplasia of the antihelix and lobule
Abnormal Ears
Normal for Comparison
Fetal Ear
Fetal Ear Length: A predictor of
aneuploidy?
Chitkara U, et al. Ultrasound Obstet Gynecol 2002; 19 (2): 131-135
• Chitkara et al evaluated 1,848 pts with singleton pregnancies
undergoing genetic amnio in 2nd or 3rd trimester
– 1,311 fetuses evaluated with complete data for ear length,
biometry, and anatomic survey
• 48 (3.7%) had abnormal karyotype
• 1,263 (96.3%) had normal karyotype
– 34/48 abnl karyotypes, considered significant; 11/34 (32.4%) abnl
karyotypes had short EL; 14 abnl karyotypes (NS) had normal fetal
EL
– Incr BPD (BPD/EL ratio of ≥4.0 noted in fetuses with abnl
karyotype
• Sensitivity and predictive value of incr BPD/EL ratio alone or incr
BPD/EL ratio in combination with short EL was no better than
sensitivity and PV of short EL alone
• Conclusion:
– Short fetal EL noted on U/S, either alone or in combination with
other U/S detected structural abnormalities, may be a useful
parameter in predicting fetal aneuploidy
Lips
Lips
90210 vs 23501
Normal Anatomy of the Oral Cavity
SECTION 1: OVERVIEW OF CLEFTS
4th Week
6th Week
5th Week
7th Week
6th Week
10th Week
Thomason, Helen A; and, Dixon, Michael J (March 2009)
Craniofacial Defects and Cleft Lip and Palate. In: Encyclopedia of
Life Sciences (ELS). John Wiley & Sons, Ltd: Chichester.
Reprinted with permission.
• The lip and palate form in the first
trimester
• The lip closes at 5-6 weeks
(conceptual age)
• The palate closes at 10 weeks
(conceptual age)
• Clefts could be detected as early as
the 11-12th postmenstrual weeks of
pregnancy
• However most clefts are detected
at the time of the initial 18-20 week
ultrasound
Profile is misleading
CL/P unilateral
CL bilateral
CL/CP bilateral
Diagnostic accuracy of
ultrasound in predicting CL/P
• CP can not be diagnosed with standard 2D
• Low uptake of CL/P in low risk pregnancies (15
%)
• Fetuses with multiple anomalies more
frequently identified than isolated clefts
• Once a defects is identified ultrasound
diagnosis of laterality and palate involvement is
very precise (> 95%)
• Soft palate is not be reliably identified
Cleft Lip and Palate
31 Cases
– 28 Cleft lip + or - palate
– 22 Cleft palate
»2D - 10/22 and 3D - 19/22
– 3 suspected clefts were normal
– 7 changed management
– 3 for termination of pregnancy
– 1 for continuation of pregnancy
– 3 had no further workup (amnio)
Johnson et al, Radiology 217:236,2000
2D Ultrasound:
Initially thought to be Palate,
really it is the Mandible
2DUS: Cleft Lip and Palate
12 week Embryo
2D Ultrasound:
Unilateral Left Cleft Lip
Cleft Lip and Palate: 12 week
2 D Sweep
Cleft Lip and Palate
•
• Reverse Face……Campbell
Reversed facial view technique as described by Campbell, et al. When the
3D volume is rendered, the transverse hard palate can be identified.
Improving Cleft Palate/Cleft Lip
Antenatal Diagnosis
by 3D Ultrasound:
The “Flipped Face View”
Lawrence D. Platt, M.D.
Professor of Obstetrics and Gynecology
David Geffen School of Medicine at UCLA
Director, Center for Fetal Medicine and Women’s Ultrasound
Los Angeles, CA USA
Cleft Palate/Cleft Lip
• 4th most common birth defect in U.S.A.
• Incidence: 1 in 700
• Clefts of the lip and primary palate
– Occur independently from clefts of the secondary
palate or vice versa
– Caused by failure of the palatine to close between
5-8 days of embryogensis
– Readily seen on 2D ultrasound; however, due to
limitations of 2D, majority are seen in neonatal
period
– 3D more optimal for antenatal diagnosis
Panel A = Fetal profile
(acquired image)
Acquired multiplanar image
Reference
point placed
at the level
just below the
philtrum
Acquired multiplanar image
Rendered image
After rotation, the rendered
chin is now observed (Panel B).
After further rotation, the rendered
image is now looking from the
chin towards the nose (Panel C).
Gradient Light
X-Ray
The rendered image at
the level of the cleft of
the alveolar ridge near
the maxillary bone using
different filters.
The surface smooth and
the surface rendering
filters provide the
greatest detailed images
of the tissues at this
level in the fetal head.
Surface Smooth
Surface
Conclusion
• “Flipped face” technique
– Rapid, highly effective method for
identifying the fetal lips, alveolar ridges,
hard and soft palates
• As early as the 2nd trimester
– After volume acquisitions, <2 minutes
required to render, display and analyze
Looking at the Fetal Palate:
• Technique:
Angled
Insonation:
The
“Pilu
Technique”
– A 2D profile is obtained
– Transducer is angled at an oblique angle of 45°to
insonate the secondary palate
– A 3D volume is acquired
– 3D reconstruction of axial and coronal planes Maxilla
(Alveolar ridge)
Hard palate
Angle of
insonation
Hard
Palate
(45°)
Pharynx
Pilu G, Segata M. A novel technique for visualization of the normal and cleft fetal secondary palate: angled
insonation and three-dimensional ultrasound. Ultrasound Obstet Gynecol. 2007 Feb;29(2):166-9.
Angled Insonation
Normal
Courtesy of Pilar Martinez Ten, Used with permission.
Angled Insonation:
Unilateral CL/P
Cleft
Hard
Palate
Larynx
Used with permission.
Courtesy of Ana Monteagudo, Used with permission.
Comparison of “Reverse face,” “Flipped
Face” and “Oblique Face”
- Which method is best?
Bilateral Cleft Lip
Surface Rendering
Flipped Face
Reversed Face
Oblique Face
* Cleft lip; 1= alveolar ridge; 2= hard palate; 3= soft palate; 4= larynx
Courtesy of Pilar Martinez Ten, Used with permission.
Comparison of “Reverse face,” “Flipped
Face” and “Oblique Face”
- Which method is best?
Ten PM, Pedregosa JP, Santacruz B, Adiego B, Barron E, Sepulveda W. Three-dimensional
ultrasound diagnosis of cleft palate: 'reverse face', 'flipped face' or 'oblique face'--which
method is best? Ultrasound Obstet Gynecol. 2009 Apr;33(4):399-406.
3D Imaging of the Fetal Face –
Recommendations from the International
3D Focus Group
• Purpose of the recommendations
– To demonstrate the different possibilities
of assessing the normal and abnormal
fetal face with 3D/4D ultrasound
– To give the operator an overview of the
benefit resulting from the application of
that technology
Merz E, Abramovicz J, Baba K, Blaas H-G K, Deng J, Gindes L, Lee W, Platt L, Pretorius D, Schild R,
Sladkevicius P, Timor-Tritsch I. Ultraschall in Med 2012; 33: 175-182
Differentiating Palate from
Mandible Using iSlice
Orbits
Palate
Tongue
Work in Progress
Palate
Mandible
TUI
• TUI
Cleft Palate
Normal for comparison
Maxillary pseudomass
Cleft Lip and Palate:
Pre and Post
Courtesy Dr Pretorius
Cleft Lip and Palate:
Post- Repair
Tessier Cleft
Tessier Cleft
Craniofacial Cleft Classifications
Cleft 0, or median craniofacial dysraphia. Its
course is outlined from the anterior
fontanelle through the frontal bone, crista
galli, midline of the nose, columella, lip, and
maxilla, and may actually involve the
tongue, lower lip, and mandible. Its cranial
extension is cleft 14.
Cleft 1, or paramedian craniofacial
dysraphia, courses through the frontal bone
and the olfactory groove of the cribriform
plate, between the nasal bone and the
frontal process of the maxilla, and through
the maxilla between the central and lateral
incisors. Its cranial extensions is cleft 13.
Cleft 2, or paranasal cleft, is similar to cleft
1, but it is slightly more lateral. Its cranial
extension is cleft 12.
Courtesy of www.TheFetus.net
Tessier Cleft Ear Tag
Craniofacial Clefting
Courtesy of www.TheFetus.net
Craniofacial Clefting
Courtesy of www.TheFetus.net
Postnatal Confirmation
Courtesy of www.TheFetus.net
Orbits
Orbits
Palate
Tongue
Work in Progress
Palate
Mandible
Fetal Orbits
• Rosati, et al (Italy, 2002)
– Evaluated 2,717 fetuses
– 11-16 wks GA, high-resolution TVU
– Interocular distance (IOD), binocular distance (BOD) and
orbital diameter (OD) obtained
• Results
– Orbital measurements increased linearly throughout early
pregnancy with good correlation to GA
•  TVU is able to visualize and measure OD
accurately in early pregnancy
– Reference ranges developed can be used to evaluate
normal development and aid in prenatal diagnosis of
syndromes with orbital growth defects and other associated
anomalies
Rosati, P, et al. Prenat Diagn 2002; 22: 851-855
Orbital and ocular anomalies
Orbital diameter
Normal
Hypothelorism
Hypertelorism
Normal
Hypotelorism
(holoprosencephaly or
severe craniostenosis)
Hypertelorism
(normal variant, cleft
lip/palate, craniostenosis)
Ocular anomalies
Anophtalmia/microphtalmia
Cataract
Unilateral
Bilateral
Intrauterine evolution of
micropthalmia
• Well documented cases of infants with
microphtalmia with normal appearing
eyes in early gestation*
• Microphtalmia can be a progressive
intrauterine disease and prenatal
diagnosis with sonographic is not
certain
* Blazer S, Zimmer EZ, Mezer E, Bronshtein M.: Early and late onset
fetal microphthalmia Am J Obstet Gynecol. 2006 May;194(5):1354-9.
Fetal Head
• Symmetry of pathology
• Hemorrhage
• Schizencephaly
• Ventriculomegaly
• Sutures
• Craniosynostosis
• Abnormal appearance
• Mild ventriculomegaly
• Dandy Walker variant
• Identify corpus callosum
Mild Ventriculomegaly
Look for the Corpus Callosum
Sutures
Syndromic craniosynostosis
Cloverleaf skull (Pfeiffer lethal)
cloverleaf
Normal and abnormal
fetal skulls
trigonocephaly
Thank You
Thank You
•
APer
• Mit
Metopic
Sutures
Chaoui et al, UOG
2005; 26:761
Differentiating Palate from
Mandible Using iSlice
Orbits
Palate
Tongue
Work in Progress
Palate
Mandible
Eyes, lenses
toothbuds
Labbro superiore
Facial anomalies: outline
•
•
•
•
Normal sonography
Profiles
Orbital and ocular anomalies
EARS
• Cleft lip/palate
• Micrognathia
• Craniosynostosis
The Fetal Face
in Genetic Diseases
CSMC
Aug 26,2009
Lawrence D. Platt, M.D.
Professor of Obstetrics and Gynecology
David Geffen School of Medicine at UCLA
Director, Center for Fetal Medicine and Women’s Ultrasound
Los Angeles, CA
The Fetal Face
in Genetic Diseases
St Johns
2oth Annual Symposium
Decembeebr 18,2009
Lawrence D. Platt, M.D.
Professor of Obstetrics and Gynecology
David Geffen School of Medicine at UCLA
Director, Center for Fetal Medicine and Women’s Ultrasound
Los Angeles, CA
The Fetal Face
in Genetic Diseases
33rd Annual
Advanced Ultrasound
Orlando
Feb 18-20,2010
Lawrence D. Platt, M.D.
Professor of Obstetrics and Gynecology
David Geffen School of Medicine at UCLA
Director, Center for Fetal Medicine and Women’s Ultrasound
Los Angeles, CA