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21 

Imaging of the Face and Neck

21A  CLEFT LIP AND PALATE


ANTONETTE T. DULAY, MD

Diagnosis • Normal variant with delayed maxillary fusion


DEFINITION • Bilateral orofacial clefting:
• Holoprosencephaly
• Common malformation that typically runs between the • Anterior meningocele
nostrils and may involve the central part of the posterior • Frontal encephalocele
palate1-4 • Macroglossia
• Linear defect extending from upper lip to the nostril1-5 • Hemangioma
• Midline clefts often associated with brain malformations • Proboscis
(e.g., holoprosencephaly6) • Rhabdomyosarcoma
• Majority of7 cases have a multifactorial etiology and • Amniotic band syndrome
inheritance. • More than 400 syndromes associated with facial clefting,1,7,8
• Four types1: including trisomy 13 and 18, Treacher Collins, Pierre
• Type 1: Unilateral cleft lip (CL), no cleft palate (CP) Robin, Goldenhar, DiGeorge, Crouzon, Waardenburg1,7,8
• Type 2: Unilateral CL, with CP
• Type 3: Bilateral CL/CP KEY DIAGNOSTIC FEATURES
• Type 4: Midline CL/CP
• Typically not detectable until about 18 weeks4,5
INCIDENCE AND PATHOGENESIS • Lips best seen
1-5
in coronal view; palate best visualized from
axial view. Three-dimensional (3D) ultrasound can
• Incidence about 1/1000 for cleft lip with or without cleft help.1,9,10
1-7
palate • Unilateral CL with or without CP:
• Incidence about 5/1000 for isolated cleft palate1-7 • Most cases of CL are left-sided and unilateral.
• Male predominance 1,6
• Obliquely aligned gap in the lip extends to the nose.
• Variation between ethnic groups: • Profile view may demonstrate a hooked nose.
• Asians, 1/600; whites, 1/1000; African Americans, 1/25001 • A gap between the maxilla and palate may be present.
• 60% of facial clefts are isolated. 5
• Bilateral CL with or without CP:
• Upper lip and primary palate normally fuse by week 7. • Central mass protrudes below the nose.
• Secondary1,5,6 palate forms by fusion of palatal shelf by • Profile view may show an infranasal, premaxillary
week 12. mass.
• CL or CP occurs if the frontonasal process of the face • Standard view of the lips may be difficult to obtain.
does not join the lateral maxillary prominences at about • If anterior palate is involved, a gap in the alveolar ridge
week 7.1,5,6 of the maxilla may be visualized.
• Normally developing fetal brain induces frontonasal • Midline CL and CP:
development. Abnormality in the underlying brain can be • Absent central maxilla and upper lip
associated with a midline facial cleft by week 4.1,5,6 • Deformed nose, possibly even absent and replaced by a
• Risk factors: hyperthermia, chronic steroids, methotrex- proboscis. The nose may also be small or have a single
ate, alcohol, hydantoin, trimethadione, and aminopterin, nostril.
maternal rubella, phenylketonuria, folic acid deficiency, • 3D ultrasound may demonstrate the interior of the mouth
and zinc deficiency1,6 better, enabling better visualization of the fetal palate:
alveolar ridge disruption or premaxillary protrusion sug-
gests presence of bilateral cleft lip and palate. Better assess-
DIFFERENTIAL DIAGNOSIS
ment of the posterior palate is also possible.1,9,10
• Facial teratoma • The amniotic fluid and placenta are usually unaffected.
• Frontonasal dysplasia However, if swallowing is affected by CL or CP, polyhy-
• Premaxillary agenesis, associated with alobar dramnios may result. With an isolated CL or CP, fetal
holoprosencephaly growth is typically normal.
264

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21  Imaging of the Face and Neck 265

ASSOCIATED ANOMALIES • Central CL or CP is typically associated with


3-8
other facial
findings, such as hypotelorism or cyclops. Holoprosen-
• Lumbar and cervical spine (33%)4-8 cephaly should also be suspected, as well as trisomy 13.3-8
• Cardiac (24%) 4-8
• Other associated syndromes include frontonasal dysplasia,
• Chromosomal (10%), especially trisomy6 137,8 and premaxillary agenesis, which typically is associated
• Polyhydramnios if defective swallowing with alobar holoprosencephaly.3-8

Imaging

LIP

Figure 21-1  Ultrasound image of cleft lip in a fetus. Figure 21-3  2D ultrasound image of midline cleft lip.

Figure 21-4  2D ultrasound image of large midline cleft lip (arrow).

Figure 21-2  2D ultrasound image of large lateral cleft lip and palate.

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266 PART 2  Obstetric Imaging

Figure 21-5  3D ultrasound image of midline cleft lip.

Figure 21-6  3D ultrasound image of of unilateral cleft lip


(arrow).

Management • In some cases, surgical procedures may take place into


ANTENATAL MONITORING the teenage years, at the end of craniofacial growth
period.1-3,6
• Antenatal studies and consultations to offer: • Multidisciplinary approach:
• Chromosomal study • Plastic, maxillofacial surgery
• Fetal echocardiogram • ENT, speech therapy, audiology
• Prenatal genetics consultation • Orthodontics, dentistry
• Consider neonatal intensive care unit (ICU) consultation. • Genetics
• Pediatric craniofacial consultation to address postnatal • Feeding evaluation, nutrition consultation
care • Psychological support
• Monthly serial ultrasound follow-up because of risk for
other anomalies PROGNOSIS
• Supplementation: folic acid (4 mg daily) before any future
conception • Surgical results usually excellent, with most patients
achieving aesthetic restoration
OBSTETRIC MANAGEMENT
• Speech development is typically excellent.1-8,11
• The intrapartum course is typically unaffected. • All children require speech and language evaluation annu-
• Because of the potential for difficulties that may arise in ally until 4 years of age.1-8
securing the airway of a neonate with CL or CP, delivery • Hearing abnormalities may be identified early, largely
at a facility with experience in this is recommended. (Not related to conduction deafness.
necessary for neonates with simple clefts, which can be • Chronic otitis media may become an issue.2-4
delivered wherever planned.) • In some cases, dental2-4abnormalities or poor olfaction can
exist, despite repair.
NEONATAL MANAGEMENT • Serial cognitive development screening1-8
• Recurrence risk:
• Examination by a pediatric dysmorphologist. In up to • Up to 4% in the next pregnancy if the parents unaf-
25% of infants with orofacial clefting, an associated mal- fected and no family history6-8
formation is discovered postnatally. • If one parent is affected, and no prior child has had CL
• Timing of repair depends on the nature of anatomic or CP, risk is 4%.
malformation.1-3,6 • 12% if one prior child is affected and 25% if two
• CL usually repaired at 2-3 months1-3,6 children are affected6-8
• CP usually repaired at 9-18 months1-3,6 • When both parents have CL or CP, recurrence risk is much
• If defects are wide, repair is often delayed, requiring higher, ranging from 35% (no prior children affected), to
increased use of presurgical nasal alveolar molding.1-3,6 45% (one child affected), to 50% (two children affected).6-8

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21  Imaging of the Face and Neck 267

REFERENCES
1. Woodward PJ, Kennedy A, Sohaey R, et al: Diag- 6. Sanders RC, Blackmon LR, Hogge WA, et al: the screening of cleft palate in the first trimester,
nostic imaging: obstetrics, ed 2, Salt Lake City, Structural fetal abnormalities: the total picture, Ultrasound Obstet Gynecol 35(1):7–13, 2010.
2011, Amirsys. ed 2, St Louis, 2002, Mosby. 10. Martínez-Ten P, Pérez Pedregosa J, Santacruz B,
2. Baxter DJ, Shroff M: Congenital midface abnor- 7. Dixon MJ, Marazita ML, Beaty TH, et al: Cleft et al: Three-dimensional ultrasound diagnosis
malities, Neuroimaging Clin N Am 21(3):563– lip and palate: understanding genetic and envi- of cleft palate “reverse face,” “flipped face,” or
584, 2011. ronmental influences, Nat Rev Genet 12(3):167– “oblique face”: which method is best? Ultra-
3. Baxter DJG, Shroff MM: Developmental maxil- 178, 2011. sound Obstet Gynecol 33(4):399–406, 2009.
lofacial anomalies, Semin Ultrasound CT MRI 8. Gillham JC, Anand S, Bullen PJ: Antenatal 11. Bessell A, Hooper L, Shaw WC, et al: Feeding
32:555–568, 2011. detection of cleft lip with or without cleft palate: interventions for growth and development in
4. Mossey PA, Little J, Munger RG, et al: Cleft lip incidence of chromosomal and structural infants with cleft lip, cleft palate or cleft lip
and palate, Lancet 374(9703):1773–1785, 2009. anomalies, Ultrasound Obstet Gynecol 34(4): and palate, Cochrane Database Syst Rev (2):
5. Bianchi D, Crombleholme T, D’Alton M, et al: 410–415, 2009. CD003315, 2011.
Fetology: diagnosis and management of the fetal 9. Sepulveda W, Wong AE, Martinez-Ten P, et al:
patient, ed 2, New York, 2010, McGraw Hill. Retronasal triangle: a sonographic landmark for

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268 PART 2  Obstetric Imaging

21B  CYSTIC HYGROMA


CHRISTINA S. HAN, MD

DIFFERENTIAL DIAGNOSIS
Diagnosis
DEFINITION • Thickened nuchal translucency
• Neural tube defects (posterior
encephalocele, cervical
• Congenital thin-walled cysts that contain lymphatic fluid meningocele)
• Septated or nonseptated, commonly located in the soft • Cystic teratoma
tissue at the posterior neck region, but may extend cepha- • Hemangioma
lad to engulf the fetal head or caudad to cover the dorsum • Thyroglossal duct cysts
of the fetus, or may be found in the mediastinum and • Branchial cleft cysts
axilla • Laryngocele
• Alternative or historical names include cystic lymphangi- • Twin-twin transfusion syndrome in monochorionic-
oma, lymphatic hamartoma, jugular lymphatic obstruc- diamniotic twin gestations
tive sequence, and hygroma colli cysticum.
ASSOCIATED ANOMALIES
INCIDENCE AND PATHOGENESIS
• Associated structural anomalies2 seen in 33.8% of cases of
• 1 in 100 pregnancies in first trimester.1 The subclassifica- first-trimester cystic hygromas
tion of septated cystic hygroma occurs in 1 in 285 • Aneuploidy (50%): Trisomy 21 (37.3%) is the most
pregnancies.2 common chromosomal abnormality associated with cystic
• Arise from failure of primitive lymphatic tree to connect hygromas, followed by Turner syndrome (28.3%), trisomy
to the venous system. Blind lymphatic pouch results in 18 (19.4%), trisomy 13 (9.0%), and triploidy (4.5%).2
dilation of the lymphatic sac.3 Mosaic deletion of chromosomes has also been reported.2
• Cardiac anomalies account for 72.7% of the associated
structural abnormalities. Reported cardiac anomalies
KEY DIAGNOSTIC FEATURES
include hypoplastic left or right heart syndrome, tetralogy
• Anechoic fluid-filled cavities that are encircled by soft of Fallot, ventricular septal defect, and other complex
tissue, usually located in the posterior neck cardiac anomalies.2 In euploid fetuses, the incidence of
• May be multiloculated with septations, or simple in major congenital heart disease was 4.3%.4
appearance • Syndromes reported in fetuses with cystic hygroma include
• May involve the fetal head, back, axilla, or mediastinum Roberts, Cornelia de Lange, multiple pterygium, and
• A thick midline band may be present posteriorly, formed Noonan syndromes, and fetal akinesia sequence.
by the nuchal ligament separating the bilateral jugular • Skeletal abnormality
lymphatic sacs. • Fetal hydrops
• Intrauterine fetal demise

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21  Imaging of the Face and Neck 269

Imaging

Figure 21-7  Fetal Turner syndrome. Large bilateral cystic mass is Figure 21-8  Large bilateral cystic mass at the level of the fetal
seen at level of fetal neck in axial view, with thick midline nuchal liga- head. Axial view shows thin midline nuchal ligament.
ment. Fetal Turner syndrome, diagnosed on amniocentesis, resulted in
demise of the fetus at term.

Figure 21-9  Cystic hygroma. Cystic hygroma seen on ultrasound Figure 21-10  Cystic hygroma. A cystic hygroma may extend cepha-
performed for first-trimester aneuploidy screening. lad to engulf the fetal head and scalp.

Twin B

Twin A

Figure 21-11  Cystic hygroma. A cystic hygroma was seen in twin A


of a dichorionic twin gestation.

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270 PART 2  Obstetric Imaging

NEONATAL MANAGEMENT
Management
ANTENATAL MONITORING • Extensive involvement of airway may be present, requiring
management by otolaryngologists, neonatologists, anes-
• Detailed fetal anatomic survey is necessary to identify thesiologists, and pediatric surgeons.
potential associated anomalies and to determine the rela- • Thorough evaluation by a pediatrician is indicated.
tionship between the hygroma and the upper airway, as • Pterygium colli (webbed neck) may be present.
obstruction can occur at birth. • Neonatal evaluation by a geneticist may be necessary to
• Fetal echocardiogram for associated cardiac anomalies rule out genetic syndromes.
• Serial fetal ultrasounds to evaluate for fetal growth, pro-
gression of hygroma, polyhydramnios from esophageal PROGNOSIS
compression, and development of fetal hydrops
• Antenatal fetal testing should be considered in late third • Compared with nonseptated cystic hygromas, septated
trimester because of risk for fetal demise. cystic hygromas confer an increased risk for aneuploidy
(odds ratio [OR] = 5.2), cardiac malformations (OR =
12.4), and fetal or neonatal death (OR = 6.0).2
OBSTETRIC MANAGEMENT
• On the basis of older studies, the mortality rate associated
• Pregnancy termination is an available management option. with cystic hygromas diagnosed before 30 weeks’ gestation is
• In the patient electing pregnancy continuation, definitive high (93%), and most deaths (84%) are associated with pro-
fetal karyotype testing is strongly indicated. gressive nonimmune fetal hydrops.7 In the FASTER trial,
• Antenatal consultations with pediatric subspecialists, neo- which reported termination rates of 59.8%, spontaneous
natologists, and geneticists may be necessary. intrauterine fetal demise was reported in 37.7% of continu-
• Fetal MRI may help with differential diagnoses and may ing pregnancies.2 Three fourths of fetal demises were reported
better delineate anatomic relationship with airway struc- in chromosomally or structurally abnormal fetuses.2
tures, particularly in cases of giant cystic hygromas.5 • Resolution may occur spontaneously in utero and is asso-
• If tracheal impingement is suspected, ex utero intrapar- ciated with improved survival and normal outcomes. In
tum treatment (EXIT) may allow an orotracheal airway or the FASTER trial, normal pediatric outcome is reported in
tracheostomy to be established before disconnection of 16.7% of fetuses with first-trimester cystic hygroma and
the neonate from the uteroplacental vasculature.6 in two thirds of live births.

REFERENCES
1. Podobnik M, Singer Z, Podobnik-Sarkanji S, Turner syndrome and trisomy 21: different promise: utility in delivery planning, Pediatr
et al: First trimester diagnosis of cystic hygro- anomalies leading to nuchal edema, Reprod Sci Radiol 31(10):727–731, 2001.
mata using transvaginal ultrasound and cytoge- 15(3):295–304, 2008. 6. Lazar DA, Olutoye OO, Moise KJ Jr, et al:
netic evaluation, J Perinat Med 23(4):283–291, 4. Sananes N, Guigue V, Kohler M, et al: Nuchal Ex-utero intrapartum treatment procedure for
1995. translucency and cystic hygroma colli in screen- giant neck masses—fetal and maternal out-
2. Malone FD, Ball RH, Nyberg DA, et al: First- ing for fetal major congenital heart defects in a comes, J Pediatr Surg 46(5):817–822, 2011.
trimester septated cystic hygroma: prevalence, series of 12,910 euploid pregnancies, Ultrasound 7. Langer JC, Fitzgerald PG, Desa D, et al: Cervical
natural history, and pediatric outcome, Obstet Obstet Gynecol 35(3):273–279, 2010. cystic hygroma in the fetus: clinical spectrum and
Gynecol 106(2):288–294, 2005. 5. Kathary N, Bulas DI, Newman KD, et al: MRI outcome, J Pediatr Surg 25(1):58–62, 1990.
3. Bekker MN, van den Akker NM, de Mooij YM, imaging of fetal neck masses with airway com-
et al: Jugular lymphatic maldevelopment in

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21  Imaging of the Face and Neck 271

21C  MICROGNATHIA
SONYA S. ABDEL-RAZEQ, MD

Diagnosis • Ultrasound findings


DEFINITION • Jaw index: the ratio of anteroposterior (AP) diameter
mandible/biparietal diameter × 100
Micrognathia is characterized by the presence of a hypoplastic • AP diameter from symphysis mentis to line drawn
mandible and receding chin. Retrognathia is a posteriorly dis- between bases of mandibular rami
placed mandible. In either instance, the typical sequence • Normative data available:
includes displacement of the tongue posteriorly and superiorly, • Jaw index < 23: 100% sensitivity, 98.7% specificity
leading to both abnormal closure of the palatine process— for micrognathia
resulting in either a clefted or a high-arched palate—and • Jaw index < 21: 100% positive predictive value
glossoptosis. • Polyhydramnios present in up to 70% of cases
• Impaired swallowing is the likely cause
INCIDENCE AND PATHOGENESIS
DIFFERENTIAL DIAGNOSIS
• Epidemiology
• Actual incidence unknown • Pseudo-micrognathia
• Seen in association with a heterogeneous group of con- • Incorrect imaging plane
ditions, including, trisomy 13, Goldenhar syndrome, • True midline sagittal view necessary
Pierre Robin sequence, Treacher Collins syndrome • Abnormal head shape may cause small-appearing chin
• Genetics • Thanatophoric dysplasia
• Autosomal dominant: recurrence risk is 50% (Treacher • Achondroplasia
Collins syndrome) • Amniotic band sequence
• Autosomal recessive: recurrence risk 25% (Smith- • Destructive defects
Lemli-Opitz syndrome) • Band from fetus to uterine wall or placenta
• Embryology
• Defect in first and second branchial arches ASSOCIATED ANOMALIES
• Abnormal migration or proliferation of neural crest
cells • Micrognathia often associated with limb abnormalities:
• Mandibular hypoplasia: superior displacement of the • Oral-facial-digital syndromes
tongue and failure of palate fusion as a result of mechan- • Oral-mandibular-limb hypogenesis syndromes
ical effect on hard palate • Teratogens:
• Isotretinoin
KEY DIAGNOSTIC FEATURES • Penicillamine
• Valproate
• General • Maternal diabetes
• Receding chin on true sagittal image of face
• Wide spectrum of severity

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272 PART 2  Obstetric Imaging

Imaging

Figure 21-15  Extreme case of micrognathia. Nasal bone and fore-


head are seen in this true sagittal image.
Figure 21-12  Normal mandible. Fetal mandible should be measured
in a plane, with the main portion of one ramus of the jaw visible between
the temporomandibular joint and the junction of the mandibular rami.
The distance between them is measured to obtain the mandibular
length. The temporomandibular joint is visualized just below the level
of the orbits in axial view.

Figure 21-16  Micrognathia. 3D ultrasound image.

Figure 21-13  Micrognathia. Sagittal view shows nasal bone and


forehead.

Figure 21-14  Micrognathia. Sagittal view shows micrognathia. Figure 21-17  Micrognathia. 3D ultrasound image.

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21  Imaging of the Face and Neck 273

• Airway support for onset of respiration may be necessary


Management because of airway obstruction from mandibular hypopla-
ANTENATAL MANAGEMENT sia and glossoptosis.
• Support can vary to include nasal trumpet, oral airway
• Genetic counseling, including detailed family history and with bag and mask ventilation, tracheostomy.
teratogen exposure • Thorough physical examination to confirm presence or
• Offer karyotype study, including 22q11.2 deletion absence of other abnormalities and need for further diag-
detection nostic testing
• 66% have abnormal chromosomes • ENT consultation
• Detailed survey for fetal anomalies • Flexible endoscopy to determine most appropriate
• Fetal echocardiogram management approach
• Consultations
• Neonatology PROGNOSIS
• Consider ENT consultation when ex utero intrapartum
treatment (EXIT) may be used. • Outcome depends on final diagnosis.
• Because of possibility of polyhydramnios, monthly sono- • Series of sonographically “isolated” micrognathia:
graphic evaluations should be performed to detect changes • 54% with airway difficulties at birth requiring
in amniotic fluid index. intervention
• 31% with feeding difficulties
OBSTETRIC MANAGEMENT • 38% with developmental delay, varying severity
• Intellectual outcome with wide variation
• Delivery in a tertiary care center • Recurrence risk
• Possibility of severe respiratory complications and dif- • Aneuploidy: 1% in maternal-age–related cases
ficult intubation • Syndromes are often sporadic new mutations, al­
• Consider EXIT procedure for airway management at though several have autosomal dominant or recessive
delivery before cutting umbilical cord inheritance.

NEONATAL MANAGEMENT
• Major care objectives are to establish a definitive diagnosis,
a stable airway, and an adequate feeding mode.

SUGGESTED READINGS
Bromley B, Benacerraf B: Fetal micrognathia: associ- Paladini D, Morra T, Teodoro A, et al: Objective isolated micrognathia, Obstet Gynecol 102(4):801–
ated anomalies and outcomes, J Ultrasound Med diagnosis of micrognathia in the fetus: the jaw 805, 2003.
13:529–533, 1994. index, Obstet Gynecol 93(3):382–386, 1999. Woodward PJ, Kennedy A, Sohaey R, et al: Diagnostic
Callen PW: Ultrasonography in obstetrics and gyne- Sanders RC, Blackmon LR, Hogge WA, et al: Struc- imaging: obstetrics, ed 2, Salt Lake City, 2011,
cology, ed 5, Philadelphia, 2008, Saunders. tural fetal abnormalities: the total picture, ed 2, St Amirsys.
Otto C, Platt LD: The fetal mandible measurement: Louis, 2002, Mosby.
an objective determination of fetal jaw size, Ultra- Vettraino IM, Lee W, Bronsteen RA, et al: Clinical
sound Obstet Gynecol 1:12–17, 1991. outcome of fetuses with sonographic diagnosis of

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21  Imaging of the Face and Neck 273.e1

21D  ABNORMAL ORBITS


SONYA S. ABDEL-RAZEQ, MD

Diagnosis • Decreased intraocular distance; specifically, less than


DEFINITION ocular diameter
• Morphology varies from mild to cyclopia (single orbit)
In early development, the eyes are placed laterally in the primi- • Ultrasound findings
tive face and, as gestation progresses, they migrate medially. • Interocular distance < 5th percentile
Hypertelorism is an increased interorbital distance. Hypotelorism • Decreased binocular distance (a key feature)
is a decreased intraorbital distance, found almost exclusively in • Isolated hypotelorism rare
association with other severe anomalies. Microphthalmia is a
decreased size of the eyeball and is usually associated with Microphthalmia
genetic syndromes. • General
• Incidence of 1/2400 pregnancies
INCIDENCE AND PATHOGENESIS • Arrested development of the eye before or shortly after
formation of optic vesicle at the 4th week of gestation
Hypertelorism
• Ultrasound findings
• Epidemiology • Normal eye measurements early in pregnancy do not
• Among infants born with craniofacial anomalies: 33% exclude possibility of microphthalmia
with hypertelorism, 74% with craniosynostosis, 50%
with identifiable syndrome DIFFERENTIAL DIAGNOSIS
• Genetics Hypertelorism
• Turner syndrome
• Trisomies • Craniosynostosis syndromes
• Translocations • Chromosome 4p deletion (Wolf-Hirschhorn syndrome)
• Gene deletions • Frontal encephalocele
• Embryology • Frontonasal dysplasia
• Disrupted eye migration • Pena-Shokeir syndrome
• Abnormal fusion of facial prominences Hypotelorism
Hypotelorism
• Holoprosencephaly
• Epidemiology • Chromosomal, particularly trisomy 13
• Holoprosencephaly: 1/16,000 births • Trigonocephaly (craniosynostosis)
• Genetics • Baller-Gerold syndrome
• Trisomy 13, trisomy 18 Microphthalmia
• Chromosome deletions
• Meckel-Gruber syndrome • Chromosomal, particularly trisomy 13
• Oculodentodigital syndrome • CHARGE syndrome (coloboma, heart anomalies, choanal
• Embryology atresia, retardation of growth and development, and
• Holoprosencephaly genital and ear anomalies)
• Prechordal mesenchyme fails to induce cleavage • Fetal infections (rubella, varicella, toxoplasmosis)
• Failure of cleavage of the prosencephalon • Goldenhar syndrome
• Failure of cleavage of the frontonasal process • Walker-Warburg syndrome
• Abnormal midface migration
ASSOCIATED ANOMALIES
Hypertelorism
KEY DIAGNOSTIC FEATURES
Hypertelorism
• Facial clefting
• Craniosynostosis
• General • Skeletal dysplasia
• Increased intraocular distance • Aneuploidy
• Ultrasound findings Hypotelorism
• Increased interocular distance (>95th percentile) more
prominent than increased binocular distance (usually • Microcephaly
< 95th percentile) • Trigonocephaly
• Isolated hypertelorism rare • Intracranial anomalies (e.g., holoprosencephaly)
Hypotelorism
• Meckel-Gruber syndrome (e.g., posterior encephalocele,
cystic kidneys, polydactyly)
• General • Myotonic dystrophy (reduced or absent fetal movements)

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273.e2 PART 2  Obstetric Imaging

Imaging

Figure 21-21  Hypotelorism. Ultrasound image, coronal view.

Figure 21-18  Hypertelorism. Ultrasound image, transverse view.

Figure 21-22  Hypotelorism. Ultrasound image, coronal view, showing


interocular distance (x) as well as binocular distance (calipers, +)
Figure 21-19  Hypertelorism. Ultrasound image, transverse view. decreased proportionally.

Figure 21-20  Hypertelorism. Ultrasound image, coronal view. The Figure 21-23  Hypotelorism. Ultrasound image, coronal view, shows
interocular distance (measured from inner to inner bony margin) is mark- binocular distance (x), and interocular distance (calipers, +). Hypo-
edly increased relative to the binocular distance (measured from outer telorism may be associated with craniosynostosis, anterior encephalo-
to outer bony margin). cele, agenesis of the corpus callosum, and midline facial clefts.

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21  Imaging of the Face and Neck 273.e3

Management NEONATAL MANAGEMENT


ANTENATAL MANAGEMENT
• Attempt to determine exact diagnosis or associated
• Genetic counseling including detailed family history anomalies
• Offer karyotyping. PROGNOSIS
• Detailed fetal anomaly survey, including assessment of
eyes • Prognosis grim if other severe anomalies present
• 3D imaging may be helpful. • The more severe the ocular abnormality, the worse the
• Fetal MRI for brain anomalies prognosis
• Consultations • Holoprosencephaly in cases of hypotelorism
• Neonatology • Stillbirth common
• Severe feeding difficulties
OBSTETRIC MANAGEMENT • Seizure disorders
• Shortened life span
• No specific deviation from standard management • Trisomy 13 common

SUGGESTED READINGS
Blazer S, Zimmer EZ, Mezer E, et al: Early and late Okkerse JM, Beemer FA, de Jong TH, et al: Condi- Trout T, Budorick NE, Pretorius DH, et al: Signifi-
onset microphthalmia, Am J Obstet Gynecol tion variables in children with craniofacial anom- cance of orbital measurements in the fetus,
194:1354–1359, 2006. alies: a descriptive study, J Craniofac Surg J Ultrasound Med 13(12):937–943, 1994.
Callen PW: Ultrasonography in obstetrics and gyne- 15(1):151–156, 2004. Woodward PJ, Kennedy A, Sohaey R, et al: Diagnostic
cology, ed 5, Philadelphia, 2008, Saunders. Sanders RC, Blackmon LR, Hogge WA, et al: Struc- imaging: obstetrics, ed 2, Salt Lake City, 2011,
Joó GJ, Beke A, Papp C, et al: Prenatal diagnosis, phe- tural fetal abnormalities: the total picture, ed 2, Amirsys.
notypic and obstetric characteristics of holopros- St Louis, 2002, Mosby.
encephaly, Fetal Diagn Ther 20(3):161–166, 2005.

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273.e4 PART 2  Obstetric Imaging

21E  GOITER
CHRISTINA S. HAN, MD

Diagnosis • Neonatal Graves disease occurs in 1.5%-12% of infants


DEFINITION who are born to affected mothers, but only a small
number will have goiters.5
• Swelling of the fetal neck resulting from diffuse enlarge- • Women with Graves disease who are clinically euthyroid
ment of the thyroid gland after medical or radioablative therapy may still have TSI.
• May occur in the setting of fetal hypothyroidism, hyper-
thyroidism, or euthyroidism KEY DIAGNOSTIC FEATURES

INCIDENCE AND PATHOGENESIS • Appears solid, homogeneous, and usually symmetric on


ultrasound. Contour is typically smooth with some
• Very rare; only case reports have been published. lobulations.
• Fetal hypothyroidism: • Localized to the anterior neck and may cause hyperexten-
• Most common cause of fetal goiter sion of the fetal neck.
• Congenital1 hypothyroidism occurs in 1 in 3000-4000 • High flow pattern may be seen on Doppler6 velocimetry in
live births, and 10%-15% of fetuses with congenital the hyperthyroid and hypothyroid states.
hypothyroidism have goiters.2 • Polyhydramnios or absent stomach bubble (or both) may
• Maternal causes: result from esophageal compression.
• Maternal antithyroid therapy is the leading cause of2 • Usually found after 20-24 weeks’ gestation, because thyroid
congenital hypothyroidism in developed countries. hormone production and response to thyroid-stimulating
• Endemic iodine deficiency is the most common cause substances are limited until 18-20 weeks’ gestation.3
worldwide.3
• Iodine intoxication DIFFERENTIAL DIAGNOSIS
• Transplacental passage of antibodies, such as thyroid-
stimulating hormone (TSH)-receptor blocking • Cystic hygroma
antibodies (TBA) or TSH-binding inhibitor immu- • Cystic teratoma
noglobulin (TBII). • Lymphangioma
• Fetal causes: • Hemangioma
• Congenital metabolic disorders of thyroid synthesis3 • Neuroblastoma
include malfunction of the cell-membrane mecha- • Thyroglossal duct cysts
nism for trapping and transporting iodide from • Branchial cleft cysts
blood, inefficiency of iodide oxidation, absent or • Laryngocele
defective enzymes for deiodinating iodotyrosines, • Ectopic thymus
and abnormalities in thyroglobulin synthesis, storage,
or release. ASSOCIATED ANOMALIES
• Mutations of TSH receptor3 3
• Thyroid hormone resistance • Fetal hyperthyroidism may be associated with cardiac
• Fetal hyperthyroidism: hypertrophy, tachycardia, hydrops, advanced bone age,
• Most commonly caused by transplacental passage of craniosynostosis, hepatosplenomegaly.
maternal thyroid-stimulating immunoglobulins (TSI) • Fetal hypothyroidism may be associated with cardiomeg-
in Graves disease.4 Graves disease affects 1 in 500 preg- aly, bradycardia, and fetal heart block.
nancies in the United States.5 • Intrauterine growth restriction
• Intrauterine fetal demise of the fetus

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21  Imaging of the Face and Neck 273.e5

Imaging

Figure 21-24  Visualization of fetal goiter with Color Doppler.


Transverse ultrasound image of the fetal neck at 24 weeks showing an
anterior bilobed mass that is symmetric around the trachea (black
arrow). (From Perrotin F, Sembely-Taveau C, Haddad G, et al: Prenatal
diagnosis and early in utero management of fetal dyshormonogenetic
goiter, Eur J Obstet Gynecol Reprod Biol 94:309–314, 2001.)

Figure 21-26  Fetal goiter. Ultrasound image, sagittal view, at 29


weeks’ gestation, demonstrating hyperextension of fetal head. (From
Agrawal P, Ogilvy-Stuart A, Lees C: Intrauterine diagnosis and manage-
ment of congenital goitrous hypothyroidism, Ultrasound Obstet
Gynecol 19:501–505, 2002.)

Figure 21-25  Fetal goiter. Coronal ultrasound image of the fetal


neck at 26 weeks showing a bilobed solid homogeneous mass (23 and
25 mm between crosses). Esophageal and tracheal compression is sug-
gested by a widening of the hypopharynx (white arrows). (From Perrotin
F, Sembely-Taveau C, Haddad G, et al: Prenatal diagnosis and early in
utero management of fetal dyshormonogenetic goiter, Eur J Obstet
Gynecol Reprod Biol 94:309–314, 2001.)

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273.e6 PART 2  Obstetric Imaging

Management necessary. Methimazole is the preferred antithyroid


medication in the second and third trimesters, because
ANTENATAL MONITORING of propylthiouracil’s risk for hepatotoxicity.8
• Antenatal consultations with neonatologists, otolaryn-
• Detailed fetal anatomic survey to identify potential associ- gologists, or pediatric surgeons may be necessary.
ated anomalies and to determine the relationship between • If tracheal impingement is suspected, ex utero intrapar-
the goiter and the upper airway tum treatment (EXIT) may allow establishment of an
• Serial fetal ultrasounds to evaluate for fetal growth, pro- orotracheal airway or tracheostomy before disconnection
gression of goiter, polyhydramnios from esophageal com- of the neonate from the uteroplacental vasculature.
pression, and development of fetal hydrops • Large goiter or hyperextension of fetal neck may cause
• Antenatal fetal testing should be considered in late third labor dystocia. Cesarean delivery should be reserved for
trimester because of the risk for fetal demise. routine obstetric indications, unless fetal neck is hyperex-
tended or EXIT is needed.
OBSTETRIC MANAGEMENT
NEONATAL MANAGEMENT
• Maternal history and physical should be performed,
looking especially for signs and symptoms of hyperthy- • Extensive involvement of airway may be present, requiring
roidism or hypothyroidism, iodine intake, and medication management by otolaryngologists, neonatologists, and
exposures. pediatric surgeons.
• Laboratory evaluation of maternal thyroid function, • Many cases of congenital goiters are not identified until
including evaluation of antithyroid antibodies. Patients the neonatal period. Thorough evaluation by a pediatri-
with Hashimoto thyroiditis should be evaluated for TBA cian is indicated.
or TBII, and patients with Graves disease should be evalu- • Congenital hypothyroidism is treated with early thyroxine
ated for TSI. replacement.
• Percutaneous umbilical blood sampling (PUBS) should be • Congenital hyperthyroidism is treated with antithyroid
considered to determine fetal thyroid status. Amniotic drugs and propranolol. Lugol solution or potassium
fluid levels of thyroid hormones may not correlate to fetal iodide and glucocorticoids may also be given in more
serum levels.7 Repeat PUBS may be necessary to confirm severe cases.9
correction of fetal thyroid status.
• Fetal hypothyroidism management: PROGNOSIS
• Reduction of maternal antithyroid therapy
• Weekly intra-amniotic levothyroxine supplementation • Congenital hypothyroidism, if not corrected soon after
is indicated in cases of fetal hypothyroidism, as thyrox- delivery, may result in irreversible neurologic impairment,
ine does not cross the placenta.7 A suggested dosage is decreased intelligence quotient, and hearing deficits.8
10 µg/kg of estimated fetal weight, because this dosage Antenatal hypothyroidism is also associated with nonreas-
closely approximates the thyroxine requirement of a suring fetal heart rate tracing, preterm delivery, low birth
neonate with hypothyroidism.7 weight, perinatal morbidity and mortality, and neuropsy-
• Fetal hyperthyroidism management: chological and cognitive impairment.10
• Antithyroid therapy, which may be administered via the • Congenital hyperthyroidism is seen in 1.5%-12% of
mother. If the mother is clinically euthyroid before women with Graves disease and is associated with a 16%
treatment, simultaneous thyroxine replacement may be early mortality rate.11

REFERENCES
1. Toublanc JE: Comparison of epidemiological 5. Nachum Z, Rakover Y, Weiner E, et al: Graves’ 11 cases in a single perinatal unit, Prenat Diagn
data on congenital hypothyroidism in Europe disease in pregnancy: prospective evaluation of 20(10):799–806, 2000.
with those of other parts of the world, Horm Res a selective invasive treatment protocol, Am J 9. Azizi F, Amouzegar A: Management of hyper-
38(5–6):230–235, 1992. Obstet Gynecol 189(1):159–165, 2003. thyroidism during pregnancy and lactation, Eur
2. Gruner C, Kollert A, Wildt L, et al: Intrauterine 6. Soliman S, McGrath F, Brennan B, et al: Color J Endocrinol 164(6):871–876, 2011.
treatment of fetal goitrous hypothyroidism con- Doppler imaging of the thyroid gland in a fetus 10. LaFranchi SH, Haddow JE, Hollowell JG: Is
trolled by determination of thyroid-stimulating with congenital goiter: a case report, Am J Peri- thyroid inadequacy during gestation a risk
hormone in fetal serum: a case report and natol 11(1):21–23, 1994. factor for adverse pregnancy and developmental
review of the literature, Fetal Diagn Ther 7. Abuhamad AZ, Fisher DA, Warsof SL, et al: outcomes? Thyroid 15(1):60–71, 2005.
16(1):47–51, 2001. Antenatal diagnosis and treatment of fetal goi- 11. Krude H, Biebermann H, Krohn HP, et al: Con-
3. Fisher DA: Fetal thyroid function: diagnosis and trous hypothyroidism: case report and review genital hyperthyroidism, Exp Clin Endocrinol
management of fetal thyroid disorders, Clin of the literature, Ultrasound Obstet Gynecol Diabetes 105(Suppl 4):6–11, 1997.
Obstet Gynecol 40(1):16–31, 1997. 6(5):368–371, 1995.
4. Chan GW, Mandel SJ: Therapy insight: manage- 8. Volumenie JL, Polak M, Guibourdenche J, et al:
ment of Graves’ disease during pregnancy, Nat Management of fetal thyroid goitres: a report of
Clin Pract Endocrinol Metab 3(6):470–478, 2007.

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