Fetal face and necK
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This document discusses ultrasound evaluation of the fetal face and neck. It outlines normal sonographic anatomy and various craniofacial anomalies that can be detected prenatally, including facial clefts, orbital defects, micrognathia, macroglossia, tumors, and ear abnormalities. It also mentions craniosynostosis and neck anomalies like nuchal cystic hygroma that can be identified. The conclusion emphasizes that identifying facial or neck anomalies indicates the need for a full fetal exam to check for associated conditions, and that prognosis depends on severity and presence of syndromes or neurological defects. Advanced ultrasound is improving detection and preparation for neonatal care.
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Fetal face and necK
- 1. Ultrasound Evaluation of the Fetal Face and Neck
- 2. OUTLINE • Normal Sonographic Anatomy of the Fetal Face • Craniofacial Anomalies -Typical and Atypical Facial Clefts -Orbital and Ocular Defects - Micrognathia and Retrognathia -Macroglossia -Tumors of the Face -Ears • Craniosynostosis • Anomalies of the neck – -Nuchal Cystic Hygroma – -Other Neck Masses
- 3. Normal Images of Fetal Face
- 4. Normal Appearance of Fetal Facial Features on UTZ Image in the Midsagittal Section Plane
- 5. Normal Appearance of Fetal Facial Structures on UTZ image in the Axial Section Planes
- 6. Normogram for Growth of the Ocular Parameters
- 7. 3D Ultrasound Images of a normal fetal face
- 8. 3D Ultrasound Images of Fetal Face
- 9. Normal Palate at 24 weeks
- 10. 3D UTZ images: Anterior and Reverse View of the Fetal Face
- 11. CRANIOFACIAL ANOMALIES 1. Facial Clefts -Typical Facial Clefts -Atypical Facial Clefts 1. Orbital and Ocular Defects 2. Micrognathia and Retrognathia 3. Macroglosia 4. Tumors of the face
- 12. Embryologic Development of the Face
- 13. Embryologic Development of the Face
- 14. Facial Clefts Typical Facial Clefts Isolated Cleft Lip (CL) - 25 % - Males (2:1) Isolated Cleft Palate (CP) - 25 % - Females(2:1) Combination of both CL and CP - 50% - Unilateral (64 %) - Bilateral (34 %) - Median (3%)
- 16. • Organic solvents • Agricultural chemical exposure • Antiepilectic medications • Retinoid medications • Corticosteriods • Maternal smoking
- 17. Normal Lip and Palate
- 18. Unilateral Cleft Lip Unilateral Cleft Palate
- 19. Bilateral Isolated Cleft lip Bilateral Cleft Lip and Palate
- 24. Atypical Facial Clefts 1. Median (3%) facial clefts • Associated with: 1. Holoprosencephaly 2. Frontonasal dysplasia (Median cleft face syndrome) 2. Lateral facial clefts -Macrostomia: widening of the oral commisure • Associated with skeletal malformation of the lateral face and external ear including the maxilla, zygomatic bone and ascending branch of the mandible
- 28. Normogram for growth of the Ocular Parameters
- 29. Orbital and Ocular Defects HYPOTELORISM • Defined as interocular distance below the 5th percentile • Suspected if the space between the orbits is not equivalent to at least the size of one orbit. • Associated with holoprosencephaly and is also found in OMIM (Online Mendelian Inheritance in Man)
- 30. Orbital and Ocular Defects HYPERTELORISM • defined prenatally as an interocular distance above the 95th percentile • associated with the median cleft face syndrome
- 31. Ocular and Orbital Defects MICROPHTHALMIA • defined as decreased size of the eye as reflected by a decreased ocular diameter • Associated with many genetic syndromes including Goldenhar syndrome, a condition of hemifacial microsomia thought to occur secondary to a vascular event involving the first and second branchial arches.
- 32. Ocular and Orbital Defects ANOPHTHALMIA • Defined as absence of the eye structures on pathologic examination
- 33. Ocular and Orbital Defects CONGENITAL CATARACTS • They can be detected on prenatal ultrasound image, as the lens will be very echogenic • The cause of congenital cataracts can be genetic (either autosomal dominant, recessive, or X-linked) or related to aneuploidy or other syndromes, infections, and metabolic
- 36. Ocular and Orbital Defects DACROCYSTOCELES • can present prenatally as anechoic masses medial and inferior to the eye and can be imaged well with tomographic ultrasound imaging (TUI) • Caused by obstruction of the lacrimal drainage system that then results in dilation of the nasolacrimal sac. • Differential diagnosis for this finding includes an encephalocele, hemangioma, and dermoid cyst.
- 38. • MICROGNATHIA refers to a small chin secondary to an underdeveloped mandible. • RETROGNATHIA refers to the posterior displacement of the chin.
- 40. • MACROGLOSSIA is subjectively defined as a protruding tongue that extends beyond the teeth and lips. • Characteristic of Beckwith-Wiedemann syndrome • Trisomy 21, an absent thyroid, triploidy, metabolic storage disorders, and multiple other genetic syndromes may also present with macroglossia
- 42. TUMORS OF THE FACE Differential diagnosis: • HEMANGIOMAS may appear as cystic or solid lesions and arise from subcutaneous tissues. • LYMPANGIOMAS are largely cystic masses that typically originate from the nuchal region • EPIGNATHUS is a rare benign oral cavity tumor
- 45. EARS abnormalities • anotia (absent ear) • microtia (small ear) • large ears • abnormal shape and position.
- 48. CRANIOSYNOSTOSIS • Defined as premature closure of single or multiple cranial sutures. • In single suture synostosis, the most commonly affected suture is the sagittal suture, followed by the coronal, metopic, and lambdoid sutures. • Skull shape is dependent on the sutures involved: sagittal suture synostosis: SCAPHOCEPHALY (DOLICHOCEPHALY) coronal suture synostosis: BRACHYCEPHALY A rarer form: KLEEBLATTSCHSDEL, which usually involves fusion of the majority of the sutures, results in a cloverleaf- shaped skull
- 52. ANOMALIES OF THE NECK Differential diagnosis: • Cystic hygroma • Lymphangioma • Hemangioma • cervical teratoma • Goiter • Branchial cleft cyst • and thyroglossal duct cyst.114
- 60. CONCLUSIONS • Orofacial clefts are among the most common fetal and neonatal anomalies. • With improved access to and expertise in both 2D and 3D sonography, the frequency and accuracy of prenatal diagnosis are improving. • Particularly with clefts that involve the palate only, 3D ultrasound imaging can be essential. • Other abnormalities of the fetal face and head amenable to potential prenatal detection include ocular defects, micrognathia and retrognathia, and craniosynostosis.
- 61. CONCLUSIONS • Identifying a facial anomaly should always signal the need for a complete detailed fetal survey, particularly the brain, to evaluate for any associated anomalies that could represent a known chromosomal abnormality or syndrome. • The same is true of the finding of fetal neck abnormalities, particularly the cystic hygroma. The prognosis for fetal facial anomalies depends on the severity of the finding, the presence of an underlying syndrome, and any associated neurologic abnormalities. • The outcome for fetal facial tumors and neck masses relies on the ability to treat and resect such lesions. Advances in prenatal ultrasound imaging of the fetal face and neck assist in preparing the patient and the surgical teams for the optimal care of the neonate.
Editor's Notes
- -The fetal face can be evaluated in 3 different planes using 2D ultrasound- sagittal, axial or transverse, and coronal view. (Explain the images) Figure A: Sagittal image showing profile Figure B: Axial image through orbits Figure C: Axial Image through palate showing the toothbuds Figure D: Coronal image showing lips and nostrils
- The sagittal plane allows for assessment of the fetal profile and can illustrate any dysmorphism of the forehead or nose and the presence of the nasal bone as well as the positioning of the fetal chin to evaluate micrognathia or retrognathia
- -The axial or transverse plane is integral at two different levels. -The first key image is that of the orbits and eyes which can be obtained caudad to the image displaying the biparietal diameter -Moving the transducer further caudad on the fetal head, one arrives at the level of the superior lip and palate followed by the fetal mandible
- -Romero and associates have published nomograms for the various ocular parameters including binocular distance, interocular distance, and ocular diameter.
- -This is a multiplanar display demonstrating the (A) sagittal, (B) Axial, and (C) coronal views of the fetal face -Though not yet validated for routine use in low risk pregnancies, 3D utz has an integral role in the evaluation and diagnosis of craniofacial anomalies. -The rendering mode can create a realistic image of the exterior facial features. -In order to obtain a volume, a pocket of amniotic fluid needs to be present in front of the fetal face.
- -The surface rendering mode can be used to create a model of a frontal view of the fetal face -The figure shows a 3D utz images of the fetal face. Surface rendering of the fetal face at (a) 11 weeks, (b) 19 weeks, and © 37 weeks.
- -Abnormality of the fetal hard palate, particularly the secondary palate, can be challenging to evaluate with 2D UTZ. -Acquiring a volume in the axial plane and then redering the hard palate can be helpful -Figure (a) 2d utz image in axial view of a normal palate showing toothbuds in the anterior alveolar ridge (solid arrow), posterior aspect of the hard palate (dashed arrow), and pharynx (P) -Figure B is a 3D image in axial view of a normal palate.
- -Other techniques that have been used include the “reverse face” view using a coronal plane through the hard palate -Figure (a) is a 3d utz image showing the anterior surface rendering and figure (b) is the reverse view skeletal rendering of the fetal face. The reverse view provides an image of the anterior palate and nasal fossa.
- -By the 5th week, the nasal placodes have formed, separating the frontonasal prominence into lateral and medial nasal processes. -The upper lip and the primary palate are formed by the end of the of the 6th week, when the medial nasal processes fuse with each other together with the paired maxillary processes. The 6th week is a sensitive time for development, and teratogenic exposures at this time can result in orofacial clefts.
- -Orofacial clefts are relatively common and occur in 1 in 700 livebirths with higher rates seen in Asian and native American population -Clefts most often run from one or both of the nostrils to the central part of the posterior palate
- -All types of orofacial clefts can potentially be associated with other structural anomalies -Table 10-4 from callen shows you the most frequent syndromes associated with facial clefts
- In addition to genetic causes, orofacial clefts have been linked to several environmental factors and medications
- -Clefting can occur during multiple stages of the embryogenesis and results in different anatomic variations depending on the timing and which prominences are affected
- The figure shows a unilateral cleft lip in a fetus at 27 weeks Figure (a) shows a frontal 2-d utz image of a lip and nose showing a cleft lip (depicted by the arrow) Figure (b) shows an axial 2-d image of a palate showing an intact primary and secondary palate with unilateral right cleft lip Figure (c) shows a frontal 3-d surface rendered image of right unilateral cleft lip
- -The figure shows an Axial plane of the maxilla in fetuses with facial clefts: A, Isolated cleft lip (arrow): the alveolar ridge is intact albeit irregular in shape as frequently happens in these cases. B, Unilateral cleft lip and palate: the defect extends only to the alveolar ridge; note that one toothbud is missing but that the secondary palate does look intact; this defect is frequently referred to as cleft alveolus. C, Unilateral cleft lip and palate; the defect is seen extending to the secondary palate (arrow). D, Bilateral cleft lip and palate (arrows); the anterior protrusion of the central portion of the maxilla (or premaxilla) indicates that the defect extends posteriorly to the secondary palate.
- -The figure shows the Protrusion of the premaxilla (arrows) in a fetus with bilateral cleft lip and palate: A, Sagittal view; B, axial view – the anterior protrusion of the central portion of the maxilla indicates that the defect extends posteriorly to the secondary palate; C, postnatal image for comparison.
- Three-dimensional ultrasound imaging of cleft lip in surface mode (A through C) Figure (a) unilateral cleft lip Figure (B) unilateral cleft lip and palate Figure © bilateral cleft lip and palate
- Holoprosencephaly- is a process in which the embryonic forebrain has incomplete cleavage. The prognosis is poor. Frontonasal dysplasia- presents with hypertelorism and the unique features of median clefting affecting the nose or both the nose and the lip or palate, broadening of the nasal root, with unilateral or bilateral colobomas of the nasal alae, lack of formation of the nasal tip, anterior cranium bifidum occultum, and a widow’s peak hair distribution
- Figure shows a median cleft lip and flattened nose in a fetus with alobar holoprosencephaly seen in a (a) sagittal, (b) coronal, (c) axial, and (D) postnatally
- Figure (c) shows a coronal image of face showing hypotelorism Figure (d) shows a 3-d rendered image of face showing proboscis and hypotelorism
- Figure shows Lateral cleft of the fetal face: A, Anterior coronal scan demonstrating the lips and nose; asymmetry in the shape of the mouth is noted (arrow). B and C, Three-dimensional ultrasound surface mode demonstrates a lateral cleft associated with a typically sunken cheek and a skin tag. D, Postnatal image.
- Burns and associates have published tables of normal values of orbital distances based on gestational age.
- -The prognosis of hypotelorism depends largely on the associated anomalies and the presence or absence of holoprosencephaly.
- FIG 10-21 Ocular anomalies: A and B, Bilateral and unilateral microphthalmia (arrows); C, cataract (arrows).
- FIG 10-22 A and B, Anophthalmia. Abnormal profile on midline sagittal image (A) with absent globes (arrows) on axial view (B
- -Some dacrocystoceles will resolve in utero, and the majority will resolve postnatally without intervention. For those that do not resolve spontaneously, initial therapy can include warm compresses, massage, and antibiotics, with surgery for unresolved cases in the form of nasolacrimal duct probing or marsupialization.
- FIG 10-23 Bilateral dacrocystoceles: Tomographic ultrasound imaging (multiple parallel slices) through fetal face demonstrating orbits and dacrocystoceles (arrows).
- These two findings can be difficult to differentiate sonographically and may also occur simultaneously; the terms are often used interchangeably. It is possible to mimic micrognathia if a suboptimal image of the fetal profile is taken obliquely, rather than in a true midsagittal plane. With true micrognathia, a normal fetal profile image cannot be obtained. - Micrognathia is often associated with syndromes and other abnormalities. - postnatally.65 Micrognathia is commonly associated with the Pierre Robin sequence, a condition that includes a U-shaped palatal cleft and glossoptosis. - Depending on the severity of the micrognathia or retrognathia, multiple treatment modalities are available after birth. Nonsurgical approaches include prone pSurgical procedures include tongue-lip adhesion, mandibular distraction osteogenesis, and tracheotomyositioning and the use of a nasopharyngeal airway. -
- FIG 10-24 Profile of normal and abnormal fetuses: A, Normal 24-week fetus showing normal facial angle of 75 degrees. B, Fetus with micrognathia with two-dimensional image on left and three-dimensional rendered image on right.
- FIG 10-25 Beckwith-Wiedemann syndrome in a second trimester fetus. A protruding tongue is seen (arrow) in the profile view.
- FIG 10-26 Epignathus. Small solid and cystic mass protruding from fetal mouth in sagittal (A) and axial (B) views.
- FIG 10-27 Epignathus: A, Antenatal sonogram demonstrating a large mass (asterisk). B and C, Postnatal images in a similar case.
- FIG 10-29 Three-dimensional ultrasound imaging of normal ear. A, Rendered profile with normal ear at 19 weeks. B, Rendered profile with normal ear at 31 weeks.
- FIG 10-30 Three-dimensional ultrasound image of abnormal ear. Unfurled ear at 33 weeks; fetus had tetralogy of Fallot and mother had coarctation of aorta. Both mother and neonate had unilateral abnormal ears.
- FIG 10-33 Diagram of fetal sutures and fontanelles: A, Anterior view. B, Lateral view. C, Posterior view. (From Pretorius DH, Nelson TR: Prenatal visualization of cranial sutures and fontanelles with three-dimensional ultrasonography.
- FIG 10-32 Antenatal sonogram from the case demonstrated in Figure 10-27B: A and B, Sagittal and axial sonograms demonstrating the cloverleaf skull (arrows). C, Exophthalmos and hypertelorism.
- FIG 10-34 Normal and abnormal cranial sutures. A, Normal four-dimensional OmniView reference image of sutures at 26 weeks showing curved line over skull. B, Rendered image of normal sutures obtained using OmniView. 1, coronal suture; 2, squamosal suture. C, Craniosynostosis of coronal suture in Apert syndrome at 21 weeks.
- FIG 10-36 Normal ultrasound images of the fetal neck: A, Three-dimensional multiplanar display of the fetal neck acquired in the axial plane. The white cursor dot is centered in the pharynx in all three planes; upper left is axial, upper right is coronal, and lower left is sagittal. B, Coronal image of the fetal neck showing the pharynx (P) and larynx.
- FIG 10-37 Nuchal cystic hygroma with lymphatic obstruction sequence.
- FIG 10-38 Nuchal cystic hygroma: A, Small hygroma in a second trimester fetus: two separate fluid accumulations (jugular sacs) are seen on each side of the neck (arrows). B, Large cystic hygroma (arrow) with septations in a fetus at 14 weeks’ gestation. C, Three-dimensional ultrasound in surface mode in a fetus with a cystic hygroma (arrow).
- FIG 10-39 Although the antenatal diagnosis was cervical teratoma, this fetus was found at birth to have a cavernous lymphangioma infiltrating the neck tissues. A and B, Two-dimensional sonograms demonstrating the large neck mass. C, Surface rendered 3D sonogram demonstrating the mass.
- FIG 10-40 Parasagittal sonographic image showing large exophytic solid and cystic cervical teratoma.
- FIG 10-41 Large cervical teratoma (CT). CS, cervical spine; h, heart.
- FIG 10-42 Fetal goiter (arrow) that was found to be associated with hypothyroidism as a consequence of excessive maternal propylthiouracil intake.