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Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_5805_Библиотеки_им_академика_М_И_Перельмана.pdf
166
12 Syndromes andAssociations
a
P
b
V
Fig. 12.12 Flipped face view in normal vs. secondary palate. (a) Intact secondary palate (P). (b) Posterior cleft of the
secondary palate. Note that the vomer (v) is seen in midline illustrating cleft in secondary palate
ab
References
NB
V
T
M
Fig. 12.13 Glossoptosis in Pierre Robin syndrome. (a) Retro positioned vertical tongue (T) seen behind the mandible
(M). (b) Tongue position highlighted in purple. Nasal bone (NB), Vomer (V). (Video 12.1)
167
pregnancy. Prenatal diagnosis is of great importance as it allows the pediatric team to provide
immediate neonatal assistance and plan EXIT
procedure.
References
1. Pereira AV, Fradinho N, Carmo S, de Sousa JM,
Rasteiro D, Duarte R, Leal MJ.Associated malformations in children with orofacial clefts in Portugal: a
31-year study. Plast Reconstr Surg Glob Open. 2018
Feb;6(2):e1635.
2. Calzolari E, Pierini A, Astol G, Bianchi F, Neville
AJ, Rivieri F, EUROCAT Working Group. Associated
anomalies in multi-malformed infants with cleft lip
and palate: an epidemiologic study of nearly 6 million
births in 23 EUROCAT registries. Am J Med Genet A.
2007;143(6):528–37.
3. Hagberg C, Larson O, Milerad J. Incidence of cleft
lip and palate and risks of additional malformations.
Cleft Palate Craniofac J. 1998 Jan;35(1):40–5.
4. Milerad J, Larson O, Hagberg C, Ideberg
M. Associated malformations in infants with cleft
lip and palate: a prospective, population-based study.
Pediatrics. 1997 Aug 1;100(2):180–6.
5. Stoll C, Alembik Y, Dott B, Roth MP. Associated
malformations in cases with oral clefts. Cleft Palate
Craniofac J. 2000 Jan;37(1):41–7.
6. Beriaghi S, Myers S, Jensen S, Kaimal S, Chan C,
Schaefer GB. Cleft lip and palate: association with
other congenital malformations. J Clin Pediatr Dent.
2009 Apr 1;33(3):207–10.
7. Duarte RE, Leal MJ.The range of congenital malformations associated with cleft lip and palate. Acta
Medica Portuguesa. 1999;12(4–6):147–54.
8. Lilius GP.Clefts with associated anomalies and syndromes in Finland. Scand J Plast Reconstr Surg Hand
Surg. 1992 Jan 1;26(2):185–96.
9. Gruss JS, Matthews DN. Median Cerebrofacial dysgenesis: the syndrome of median facial defects with
Hypotelorism. Cleft Palate J. 1978 Jul 1;15(3):275–81.
10. Kaufman MG, Cassady CI, Hyman CH, Lee W,
Watcha MF, Hippard HK, Olutoye OA, Khechoyan
DY, Monson LA, Buchanan EP. Prenatal identication of Pierre Robin sequence: a review of the literature and look towards the future. Fetal Diagn Ther.
2016;39(2):81–9.
11. Sugi MD, Jorgensen SA, Towbin AJ, Towbin R.Pierre
Robin sequence. Appl Radiol. 2017 Apr 1;46(4):36.
12. Teoh M, Meagher S.First-trimester diagnosis of micrognathia as a presentation of Pierre Robin syndrome.
Ultrasound Obstet Gynecol. 2003 Jun;21(6):616–8.
13. Lakshmy SR, Rose N, Masilamani P, Umapathy
S, Ziyaulla T. Absent ‘superimposed-line’sign:
novel marker in early diagnosis of cleft of fetal secondary palate. Ultrasound Obstet Gynecol. 2020
Dec;56(6):906–15.
14. Sepulveda W, Wong AE, Vinals F, Andreeva E,
Adzehova N, Martinez-Ten P.Absent mandibular gap
in the retronasal triangle view: a clue to the diagnosis of micrognathia in the rst trimester. Ultrasound
Obstet Gynecol. 2012 Feb;39(2):152–6.
15. Bronshtein M, Blazer S, Zalel Y, Zimmer
EZ. Ultrasonographic diagnosis of glossoptosis in
fetuses with Pierre Robin sequence in early and
mid pregnancy. Am J Obstet Gynecol. 2005 Oct
1;193(4):1561–4.
Scope forFuture
13
13.1 Screening forOrofacial Cleft
The recommended minimum requirements for a
basic fetal anatomic survey during the mid trimester of pregnancy includes evaluation of the
upper lip for possible cleft anomaly [1]. Routine
evaluation of the palate or the identication of
palatine cleft is not currently included in the
guidelines.
However, once a cleft lip is detected, an
extended evaluation of the fetal face is necessary
to assess cleft extension into the palate. Hence
every sonographer makes an attempt to evaluate
the palate in case of cleft lip, even though it is not
included as a part of the routine anatomic
survey.
An algorithmic approach to evaluate cleft
extension into the palate has been proposed in
Chap. 10, Fig. 10.13. If the evaluation of the palate is reserved to only those cases with cleft lip,
then isolated cleft of secondary palate becomes a
non-diagnosable entity. This explains the very
low detection rates of isolated CP in antenatal
ultrasound.
Moreover, families who have a previous child
with CL± CP have a 3 to 5% chance of recurrence, and if a parent and a previous child are
both affected, the recurrence rate may be as high
as 15% [2]. There are many known genetic syndromes with the association of median cleft palate (CP).
Recurrence risk is one of the major concerns
the parents and families have to confront. So, this
emphasizes the need for us to incorporate the
evaluation of palate in the screening protocol for
high-risk cases. As of now, there are no guide-
lines on screening for palatine clefts, but there
is a need to develop a methodical approach to
assess the palate in mid trimester.
Though sonographic markers like “the equal
sign” for visualizing the uvula has been proposed, we are yet to arrive at a consensus of
whether to include the sign in our routine protocol. It goes without saying that inclusion of this
sign in routine protocol would increase the detection rate of isolated cleft of secondary palate [3].
Shadowing from premaxilla and the surrounding facial bones hinder visualization of the palate
in routine conventional views. Evaluation of palate is possible only when the fetal neck is in
slight extension and uid in the oral cavity is a
necessary prerequisite. So, most often failure to
visualize the secondary palate in ultrasound is
because of unfavorable fetal position.
The difculties in assessing the palate in mid
trimester do not exist if evaluation of the palate is
shifted to the late rst trimester. The palate being
at in early gestation, and as there is minimal
shadowing from facial bones, it can easily be
evaluated in the late rst trimester.
The midsagittal facial prole is routinely done
at the 11–14weeks scan for the nuchal translu-
© The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd. 2021
L. R. Selvaraj, T. Ziyaullah, First and Mid Trimester Ultrasound Diagnosis of Orofacial Clefts,
https://doi.org/10.1007/978-981-16-4613-3_13
169
170
13 Scope forFuture
cency measurement, and all sonographers are
familiar with the anatomical landmarks in this
plane. Hence, the markers proposed in the midsagittal section serve as one of the important
tools for the diagnosis of cleft palate.
The guidelines for the anatomical survey at
11–14weeks scan includes evaluation of the lips.
As there is minimal soft tissue development at
this period of gestation, the bony landmarks of
the palate serve as better tools to diagnose the
orofacial cleft rather than the lip. The inclusion
of either the axial and coronal views or both
along with the midsagittal view helps to increase
the detection rate of the cleft palate at
11–14weeks scan [4].
With the addition of newer markers like
“superimposed line sign,” there is a potential for
earlier detection of the isolated cleft of the secondary palate [5]. Moreover, the advantages of
multiplanar imaging in the rst trimester are to be
explored in the near future.
An effective screening protocol for detecting
cleft palate is needed, particularly one that can
be applied early in pregnancy when it is possible
to perform preliminary genetic diagnoses.
Figure13.1 illustrates the basic planes included
for screening in the rst trimester and mid trimester to evaluate for cleft palate in high-risk and
low-risk cases.
13.2 Ultrasound andMRI
inDetecting Orofacial Cleft
Magnetic resonance imaging (MRI) is a valuable
complement to sonography, adding useful information about the maxillofacial anatomy and
allowing precise evaluation of the primary and
secondary palate. The advantage of MRI is that
it is less affected by maternal body habitus,
severe oligohydramnios and unfavorable fetal
position. Fetal MRI can be used as an imaging
adjuvant in doubtful cases to conrm the position
and extension of clefts in high-risk cases [6].
MR imaging has shown high positive (96%)
and negative (80%) predictive values for the
detection of cleft palate. Some studies have compared 2D ultrasound and MRI of the maxillofa-
cial region in the ability of visualizing the
location and extent of malformations [7]. These
studies have shown better accuracy in the detection of cleft lip and palate on MRI (100%) versus
2D ultrasound (85%) [8, 9].
In MRI, communication of the oropharynx
and nasopharynx in the expected region of the
soft palate and an abnormally elevated tongue
position are clues to the presence of cleft secondary palate. However, visualization of the soft
palate during the swallowing movement of the
tongue during real-time imaging is an exclusive
feature of ultrasonography.
It is possible that with a combination of ultrasound and MRI, we can improve our accuracy
and detection rate of facial clefts and their associations [10]. However, the accessibility of MRI
to antenatal cases is limited in various parts of the
world, and hence ultrasound stays as the rst-line
imaging modality in diagnosing orofacial clefts.
13.3 3D Imprinting
In the future, physicians may use 3D models
reconstructed from ultrasound, CT, and/or MRI
data sets for the representation of orofacial clefts
that would prepare them for dealing with different clinical scenarios of the future newborn [11,
12]. The 3D model also allows parents to under-
stand more clearly the extent of the cleft deformity and facial dysmorphism. The 3D printed
model contains all the anatomical features of the
facial area involved, and it allows surgeons to
understand the situation and plan postnatal surgical care clearly.
As 3D printed models have a wide reaching
potential in the eld of medical education, it is
very useful for medical students to aid in the
interpretation of 2D imaging to assess the phenotypic variations in diagnosing cleft lip and
palate [13].
With advancements in technology, making an
accurate prenatal denition of the type and extension of facial cleft is possible, by which we can
counsel patients more precisely and plan postnatal management correctly. As in-utero repair
of facial clefts leads to a scarless healing of the
13.3 3D Imprinting
171
Screening in low risk cases (mid trimester)
Nose chin view Uvula
Screening in high risk cases (mid trimester)
Nose chin view
Sagittal
Bony posterior edge of palate
Screening in high risk cases (first trimester)
Axial
Uvula in sagittal view
Coronal
Fig. 13.1 Screening protocol for detecting cleft palate in rst trimester and mid trimester
172
13 Scope forFuture
mucoperiosteum, in the future the prospective
mothers with affected babies may never see postnatally the cleft in their babies [14, 15]. Now that
prenatal surgery is a reality, and with the use of in
utero endoscopic techniques, repair of facial
clefts in-utero may be an achievable goal in the
future.
References
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Hernandez-Andrade E, Johnsen SL, Kalache K,
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2. Benacerraf BR, Mulliken JB.Fetal cleft lip and palate: sonographic diagnosis and postnatal outcome.
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marker in the diagnosis of fetal isolated cleft palate.
Ultrasound Obstet Gynecol. 2010 Oct;36(4):439–44.
4. Lakshmy SR, Deepa S, Rose N, Mookan S, Agnees
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5. Lakshmy SR, Rose N, Masilamani P, Umapathy
S, Ziyaulla T. Absent ‘superimposed-line’sign:
novel marker in early diagnosis of cleft of fetal secondary palate. Ultrasound Obstet Gynecol. 2020
Dec;56(6):906–15.
6. Mailáth-Pokorny M, Worda C, Krampl-Bettelheim
E, Watzinger F, Brugger PC, Prayer D. What does
magnetic resonance imaging add to the prenatal ultrasound diagnosis of facial clefts? Ultrasound Obstet
Gynecol. 2010 Oct;36(4):445–51.
7. Ghi T, Tani G, Savelli L, Colleoni GG, Pilu G,
Bovicelli L.Prenatal imaging of facial clefts by magnetic resonance imaging with emphasis on the posterior palate. Prenat Diagn. 2003 Dec 15;23(12):970–5.
8. Manganaro L, Tomei A, Fierro F, Di Maurizio M,
Sollazzo P, Sergi ME, Vinci V, Bernardo S, Irimia D,
Cascone P, Marini M.Fetal MRI as a complement to
US in the evaluation of cleft lip and palate. Radiol
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9. Wang G, Shan R, Zhao L, Zhu X, Zhang X.Fetal cleft
lip with and without cleft palate: comparison between
MR imaging and US for prenatal diagnosis. Eur J
Radiol. 2011 Sep 1;79(3):437–42.
10. Descamps MJ, Golding SJ, Sibley J, McIntyre A,
Alvey C, Goodacre T.MRI for denitive in utero diagnosis of cleft palate: a useful adjunct to antenatal care?
Cleft Palate Craniofac J. 2010 Nov;47(6):578–85.
11. Speranza D, Citro D, Padula F, Motyl B, Marcolin F,
Calì M, Martorelli M.Additive manufacturing techniques for the reconstruction of 3D fetal faces. Appl
Bionics Biomech. 2017 Dec;19:2017.
12. Vezzetti E, Speranza D, Marcolin F, Fracastoro
G.Diagnosing cleft lip pathology in 3D ultrasound:
a landmarking-based approach. Image Anal Stereol.
2016;35(1):53–65.
13. AlAli AB, Grifn MF, Calonge WM, Butler
PE. Evaluating the use of cleft lip and palate
3D-printed models as a teaching aid. J Surg Educ.
2018 Jan 1;75(1):200–8.
14. Larson BJ, Longaker MT, Lorenz HP.Scarless fetal
wound healing: a basic science review. Plast Reconstr
Surg. 2010 Oct;126(4):1172.
15. Rolfe KJ, Grobbelaar AO.A review of fetal scarless
healing. Int Sch Res Notices. 2012;2012:698034.