Continued part 1, part 2 of ebook Obstetric imaging: Fetal diagnosis and care provide readers with content about: head and neck; orbital defects - hypertelorism and hypotelorism; micrognathia and retrognathia; facial dysmorphism; fetal thyroid masses and fetal goiter; congenital high airways obstruction syndrome (chaos) and bronchial atresia; heart and great vessels; ultrasound of normal fetal heart; ventricular septal defect;...
PART Head and Neck SECTION ONE Facial Anomalies To access the videos in this chapter, scan this QR code or visit expertconsult.com 65 Cleft Lip and Palate OLGA GÓMEZ | BIENVENIDO PUERTO Introduction Orofacial clefts, which include cleft lip (CL), cleft lip and palate (CLP), and cleft palate alone (CP), include a range of disorders affecting the lips and oral cavity, and represent the most common craniofacial malformation identified in the newborn They can occur as a part of a syndrome involving multiple organs or as isolated malformations Disorder DEFINITION Orofacial clefts represent all those defects involving the upper lip, with or without extension to the alveolar ridge or primary palate, and to the hard or secondary palate Defects can also be classified according to their location in unilateral, bilateral, or medial The particular location of the defect is important in terms of evaluating the risk of associated anomalies and postnatal outcome risk factors such as maternal exposure to tobacco smoke, alcohol, poor nutrition, viral infection, medicinal drugs, and teratogens in early pregnancy This is in line with the finding that planned pregnancies have lower risks of these defects.1 Because the lip and primary palate have distinct development origins from the secondary palate, orofacial clefts can be subdivided into different types (Figs 65.1–65.5): Cleft lip without cleft palate (CL): 25% of orofacial clefts Only the lip is laterally affected and the defect can be unilateral or bilateral Cleft lip with cleft palate (CLP): 50% of cases The lip and the primary palate are involved This is a lateral defect that can be unilateral or bilateral Isolated cleft palate (CP): 25% of orofacial clefts Only the secondary palate is affected This form is very seldom diagnosed prenatally Median cleft lip and palate (MCLP): less than 1% of all orofacial clefts It is distinguished etiologically from lateral CL and/or CLP, since it could be considered a midline defect It is more often associated with other brain and facial midline PREVALENCE AND EPIDEMIOLOGY Orofacial clefts arise in about 1 : 700 to 1 : 1000 live births, with ethnic and geographic differences; the prevalence is lowest in African Americans, intermediate in Caucasians, and highest in Native Americans and Asians The prevalence varies for the type of orofacial cleft: 3.4 : 10,000 to 22.9 : 10,000 births for CL and CLP and 1.3 : 10,000 to 25.3 : 10,000 births for isolated CP.1 CL and CLP are listed as a feature in more than 200 and 400 genetic syndromes, respectively Approximately 15% to 45% are associated with other anomalies, genetic syndromes, and chromosomal abnormalities.2–6 Lip Primary palate or alveolar ridge Secondary palate or hard palate ETIOLOGY, PATHOPHYSIOLOGY, AND EMBRYOLOGY The etiology of orofacial clefts is multifactorial Epidemiologic and experimental data suggest an influence of environmental Fig 65.1 Scheme of normal lips and palate (Modified from Kernohan diagram) 311 312 PART 8 Head and Neck • SECTION ONE Facial Anomalies Fig 65.2 Scheme of unilateral and bilateral cleft lip (CL) Note that the primary and secondary palates are normal Fig 65.3 Scheme of unilateral and bilateral cleft lip and palate (CLP) The primary palate is involved and the defect can or cannot extend to the secondary palate Fig 65.4 Scheme of cleft palate (CP) alone The lips and the primary palate are normal, and there is a defect in the hard palate that can affect only the most posterior part of it anomalies, and the risk of chromosomal anomalies is very high MANIFESTATIONS OF DISEASE Clinical Presentation Unilateral forms are more common than the bilateral forms (75% and 25%, respectively) The palate is affected in 75% of unilateral and 90% of bilateral cases Fig 65.5 Scheme of median cleft lip and palate (MCLP) The defect affects the central part of the upper lip and palate As previously mentioned, approximately 15% to 45% of orofacial clefts in the fetus are associated with other anomalies The risk of chromosomal abnormalities is higher in bilateral forms of CLP, in isolated CP, and in those cases associated with other anomalies Around 2% to 7% of the orofacial clefts can be associated with a genetic syndrome.1–6 The prognosis of orofacial clefts depends on its extension (involvement of palate) and its association with other anomalies The effects of orofacial clefts on speech, hearing, appearance, and psychology can lead to long-lasting adverse outcomes for health and social integration Typically, affected children need multidisciplinary care from birth to adulthood, and have increased rates of morbidity throughout life Imaging Technique and Findings Ultrasound. CL and CLP can be diagnosed when the soft tissues of the fetal face are visualized sonographically, at 13–14 weeks by transabdominal ultrasound (US) and somewhat earlier by transvaginal US.7,8 The diagnosis can be made using different views of the lower part of the face (Fig 65.6), showing the interruption or discontinuity at the lip and/or palate The oblique view of the mouth is essential for the diagnosis and to determine whether the defect is unilateral or bilateral The axial view at the level of the upper maxilla will help determine the integrity or involvement of the anterior palate (Figs 65.7 and 65.8) If CL is not associated with a palate defect, the alveolar ridge will be intact and the maxilla unremarkable If, on the contrary, the cleft involves the bony structures, an abnormal communication between the oral and nasal cavities can be seen It should be noted that the midline sagittal view appears normal in unilateral CL and CLP, since the defect lies in another plane Bilateral CLP presents a characteristic appearance, with midline protuberance of soft tissue hanging from the philtrum (Fig 65.9).9 Several authors have suggested the utility of color Doppler to demonstrate the passage of amniotic flow through the palate during fetal swallowing (Fig 65.10) Evaluation of the secondary or hard palate is highly difficult due to the acoustic shadow of the surrounding structures and the presence of the tongue In general, isolated CP is very difficult to identify in the fetus Three-dimensional US and magnetic resonance imaging (MRI), when available, can help evaluate the hard palate.10–14 A novel technique to visualize the uvula and 65 Cleft Lip and Palate A B Fig 65.6 (A) Normal oblique view of a mouth from a fetus of 21 weeks of gestation Note the integrity of the upper lip (B) Normal transverse view of the same fetus showing a normal alveolar ridge and posterior palate A C B Fig 65.7 (A, B) Oblique views of a fetus with a left cleft lip (CL) (C) Cleft palate in the view Note the interruption of the alveolar ridge, which confirms the defect A B C Fig 65.8 (A, B) Oblique views of a fetus with a bilateral cleft lip and palate (CLP) (C) Cleft palate in the transverse view Note the interruption of the alveolar ridge, which confirms the defect 313 A C B D E Fig 65.9 (A, B) Oblique view of a fetus with a bilateral cleft lip (CL) (C–E) Longitudinal two-dimensional and rendered three-dimensional sagittal volume of the same fetus showing the infranasal tumor secondary to the bilateral cleft lip and palate (CLP) A B C D Fig 65.10 (A–C) Different views of a fetus with a unilateral cleft lip and palate (CLP) (D) The power Doppler confirms the involvement of the primary palate since it demonstrates the entrance of amniotic flow through the defect 65 Cleft Lip and Palate A 315 C B Fig 65.11 (A, B) Rendered and multiplanar three-dimensional views of a fetus with a median cleft lip and palate (MCLP) There is a central defect that affects all of the midline Note the absence of a normal nose (C) Postnatal image correlation A B Fig 65.12 (A, B) Sagittal and coronal T2-MRI sections showing a normal palate (asterisks) in a fetus at 30 weeks of gestation soft palate by two-dimensional imaging has also been described.15 The visualization of the normal uvula, with a typical echo pattern (“equal sign”) in a sagittal or coronal pharyngeal section, could be obtained in 91% of 667 fetuses from 20–25 weeks of gestation, thus permitting CP to be ruled out in routine examinations In MCLP forms the defect will be central and located at the median lip (Fig 65.11) As mentioned, these defects are a midline anomaly almost constantly associated with other midline anomalies (different forms of holoprosencephaly, altered orbits, and nose anomalies).9 Magnetic Resonance Imaging. Magnetic resonance imaging is useful to assess the hard palate in the fetus (Fig 65.12),13 but it is more sensitive at advanced gestational ages Therefore it can be considered a complementary tool in special cases such as those at high risk because of family or personal history Other Applicable Modality. Three-dimensional US offers help assessing the extent of the defect16,17 and improves communication with parents (Figs 65.13 and 65.14, Video 65.1) CLASSIC SIGNS • Unilateral, bilateral, or median interruption of the upper lip in the oblique-coronal section of the face • Interruption of the upper alveolar ridge in axial sections Differential Diagnosis From Imaging Findings Amniotic band syndrome affecting the fetal face Tumors located in the orofacial region can mimic a bilateral CLP The characteristics of the tumor and accurate assessment of the upper lip should help establish the diagnosis Synopsis of Treatment Options PRENATAL There is no prenatal treatment for orofacial clefts In utero correction of orofacial clefts has been shown in animal models, 316 PART 8 Head and Neck • SECTION ONE Facial Anomalies A B Fig 65.13 (A) Rendered three-dimensional image of a fetus with a left cleft lip and palate (CLP) at 28 weeks of gestation (B) Newborn after delivery A C B Fig 65.14 (A) Newborn with a bilateral cleft lip and palate (CLP) (B, C) Rendered three-dimensional images of the fetus at 31 weeks of gestation but in human pregnancies the risks outweigh the benefits Obstetric management should not be changed, but referral to a comprehensive management team is recommended Special nipples to aid in feeding should be available at the site of planned birth for additional structural abnormalities (15%–45%) and genetic syndrome (2%–7%) • The recurrence risk depends on the form of the defect (higher for CP), the presence of a genetic syndrome, and the existence of other cases in the family POSTNATAL Treatment protocols may differ remarkably within and between developed countries Postnatal care entails immediate needs, such as feeding and airway problems Primary lip repair can often be undertaken at months of life, with palate repair at months Additional surgeries, as well as speech and orthodontic therapies, are often needed WHAT THE REFERRING PHYSICIAN NEEDS TO KNOW • Obstetric management should not be changed in the presence of this anomaly, but it is recommended to refer the parents to a comprehensive management team • Amniocentesis, including array comparative genomic hybridization, should be considered, and a careful assessment KEY POINTS • Orofacial clefts are the most common craniofacial anomaly • High risk of associated anomalies and genetic syndromes in the fetus • Overall good prognosis for isolated forms SUGGESTED READING Carlson DE The ultrasound evaluation of cleft lip and palate—a clear winner for 3D Ultrasound Obstet Gynecol 2000;16(4):299-301 Mossey PA Cleft lip and palate Lancet 2009;374(9703):1773-1785 All references are available online at www.expertconsult.com 65 Cleft Lip and Palate 316.e1 REFERENCES Mossey PA, Little J, Munger RG, et al Cleft lip and palate Lancet 2009;374(9703):1773-1785 Chmait R, Pretorius D, Moore T, et al Prenatal detection of associated anomalies in fetuses diagnosed with cleft lip with or without cleft palate in utero Ultrasound Obstet Gynecol 2006;27(2):173-176 Calzolari E, Pierini A, Astolfi G, et al Associated anomalies in multimalformed infants with cleft lip and palate: an epidemiologic study of nearly million births in 23 EUROCAT registries Am J Med Genet A 2007;143(6):528-537 Gillham JC, Anand S, Bullen PJ Antenatal detection of cleft lip with or without cleft palate: incidence of associated chromosomal and structural anomalies Ultrasound Obstet Gynecol 2009;34(4):410-415 Johnson CY, Honein MA, Hobbs CA, et al Prenatal diagnosis of orofacial clefts, National Birth Defects Prevention Study, 1998–2004 Prenat Diagn 2009;29(9):833-839 Ensing S, Kleinrouwler CE, Maas SM, et al Influence of the 20-week anomaly scan on prenatal diagnosis and management of facial clefts Ultrasound Obstet Gynecol 2014;44:154-159 Sepulveda W, Wong AE, Martínez-Ten P, et al Retronasal triangle: a sonographic landmark for the screening of cleft palate in the first trimester Ultrasound Obstet Gynecol 2010;35(1):7-13 Ghi T, Arcangeli T, Radico D, et al Three-dimensional sonographic imaging of fetal bilateral cleft lip and palate in the first trimester Ultrasound Obstet Gynecol 2009;34(1):119-120 Gabrielli S, Piva M, Ghi T, et al Bilateral cleft lip and palate without premaxillary protrusion is associated with lethal aneuploidies Ultrasound Obstet Gynecol 2009;34(4):416-418 10 Campbell S, Lees C, Moscoso G, et al Ultrasound antenatal diagnosis of cleft palate by a new technique: the 3D “reverse face” view Ultrasound Obstet Gynecol 2005;25(1):12-18 11 Campbell S Prenatal ultrasound examination of the secondary palate Ultrasound Obstet Gynecol 2007;29(2):124-127 12 Faure JM, Captier G, Baumler M, et al Sonographic assessment of normal fetal palate using three-dimensional imaging: a new technique Ultrasound Obstet Gynecol 2007;29(2):159-165 13 Ghi T, Tani G, Savelli L, et al Prenatal imaging of facial clefts by magnetic resonance imaging with emphasis on the posterior palate Prenat Diagn 2003;23(12):970-975 14 Pilu G, Segata M A novel technique for visualization of the normal cleft fetal secondary palate: angle insonation and three-dimensional ultrasound Ultrasound Obstet Gynecol 2007;29(2):166-169 15 Wilhelm L, Borges H The “equals sign”: a novel marker in the diagnosis of fetal isolated cleft palate Ultrasound Obstet Gynecol 2010;36:439-444 16 Carlson DE The ultrasound evaluation of cleft lip and palate—a clear winner for 3D Ultrasound Obstet Gynecol 2000;16(4):299-301 17 Lee W, Kirk JS, Shaheen KW, et al Fetal cleft lip and palate detection by three-dimensional ultrasonography Ultrasound Obstet Gynecol 2000;16(4):314-320 66 Orbital Defects: Hypertelorism and Hypotelorism ELISENDA EIXARCH | BIENVENIDO PUERTO Introduction Orbits can be identified from 10 to 12 weeks of gestation by transvaginal ultrasound.1 On ultrasound evaluation, orbits appear as echolucent circles, and inside these structures lenses can be indentified as small echogenic circular structures In normal development, ocular structures develop laterally and migrate toward the midline to reach their final position Orbital defects are rarely diagnosed in the fetus However, these anomalies are highly associated with chromosomal and nonchromosomal defects Hypertelorism DEFINITION Hypertelorism is defined by an increased interocular distance (IOD) above the 95th centile PREVALENCE AND EPIDEMIOLOGY mainly in the face, central nervous system (CNS), or cranial bones Some syndromes detectable in utero are listed in Table 66.1 Isolated hypertelorism is very rare; therefore an anatomic scan and karyotype analysis are necessary in order to detect malformations or chromosomal abnormalities The prognosis depends on the underlying syndrome or associated anomalies Imaging Technique and Findings Ultrasound. Ultrasound (US) diagnosis is made on the axial view of the orbits (lateral or ventral approach) by measuring IOD Orbital biometry is not routinely assessed but it should be checked whenever there is suspicion of an orbital anomaly Orbits can be assessed easily by US in an axial plane slightly caudal to the biparietal diameter plane Ocular diameter, interocular distance, and binocular distance can be determined either in lateral or coronal planes Additionally, a ventral view can be useful to assess the intraocular soft tissues, lenses, and posterior walls of the orbits (Fig 66.1) Normal values for ocular measurements in early gestation,3 midgestation, and late gestation4 are This is a very rare condition TABLE 66.1 NONCHROMOSOMAL SYNDROMES ASSOCIATED WITH HYPERTELORISM ETIOLOGY AND PATHOPHYSIOLOGY Three different mechanisms have been proposed to be responsible for this anomaly: (1) primary arrest of the migration process, (2) secondary arrest of migration due to the presence of a midline tumor, which mechanically limits migration, and (3) abnormal development and growth of the cranial bones.2 MANIFESTATIONS OF DISEASE Clinical Presentation Hypertelorism is rarely associated with chromosomal abnormalities, but is highly associated with nonchromosomal syndromes,2 Hypertelorism associated with: Syndrome Anterior cephalocele, median cleft lip, and bifid nose Turricephaly, macroglossia, syndactyly, fusion of cervical vertebrae, renal anomalies, and heart anomalies Cataract, microcephaly, agenesis of the corpus callosum, severe cerebellar hypoplasia, micrognathia, short limbs, syndactyly, joint contractures, early-onset fetal growth retardation, and polyhydramnios Frontonasal dysplasia Apert syndrome Neu-Laxova syndrome Lens IOD OD BOD Orbit Posterior wall Fig 66.1 Normal anatomy of the orbits and measurement of ocular biometry including ocular diameter (OD), interocular distance (IOD), and binocular distance (BOD) 317 318 PART 8 Head and Neck • SECTION ONE Facial Anomalies available Measurements are particularly useful in moderate hypertelorism (Fig 66.2), while in severe, very obvious cases ocular biometry may be unnecessary Magnetic Resonance Imaging. Orbits can be assessed by magnetic resonance imaging (MRI) and nomograms of ocular biometry are available.5,6 Orbital measurements with MRI can provide additional information supporting normality or abnormality,5 especially when US evaluation is inconclusive Additionally, the use of fetal MRI could be useful to demonstrate additional associated anomalies.7 Hypotelorism DEFINITION Hypotelorism is defined by a decreased IOD below the fifth centile PREVALENCE AND EPIDEMIOLOGY This is an uncommon condition ETIOLOGY AND PATHOPHYSIOLOGY D 1.05 cm D 2.07 cm D 1.00 cm Fig 66.2 Hypertelorism in a 21-week-old fetus with an increased interocular distance associated with turricephaly D, right orbit diameter; D, inner orbital distance; D, left orbit diameter Development of midline facial structures is closely related with development of the forebrain.8 The most common cause of hypotelorism is a defect in migration, which is frequently associated with a defect in the development of the midline embryonic forebrain producing holoprosencephaly MANIFESTATIONS OF DISEASE Clinical Presentation Isolated hypotelorism is extremely rare In 80% of cases it is associated with holoprosencephaly.9 Additionally, hypotelorism can be associated with microcephaly10 and Meckel-Gruber A B Fig 66.3 (A) Moderate hypotelorism in a 24-week-old fetus with a decreased interocular distance, holoprosencephaly, and arhinia (B) Severe hypotelorism in a 13-week-old fetus with alobar holoprosencephaly, microphthalmia, and proboscis Dashed line depicts the measurement of IOD syndrome11 (occipital cephalocele, cystic renal dysplasia, and postaxial polydactyly associated with craniofacial, CNS, and gastrointestinal anomalies) Hypotelorism is also highly associated with chromosomal abnormalities, the most common being trisomy 13,12 thus karyotype analysis is mandatory An anatomic scan, mainly focused on the CNS, should be performed to detect holoprosencephaly or other associated malformations Prognosis is normally very poor due to the high mortality rate of trisomy 13 and the severe mental retardation of holoprosencephaly Imaging Technique and Findings Ultrasound. US diagnosis is made on the axial view of the orbits (lateral or ventral approach) and should be based on the measurement of IOD (Fig 66.3) Magnetic Resonance Imaging. As in hypertelorism evaluation, orbital measurements with MRI can provide additional information,5 especially when US evaluation is inconclusive Due to the high association with holoprosencephaly, fetal MRI could be useful to assess intracranial structures, especially if not well seen by US.13 Synopsis of Treatment Options POSTNATAL Isolated hypertelorism results in a cosmetic problem that could be solved by means of surgical correction.14 WHAT THE REFERRING PHYSICIAN NEEDS TO KNOW Orbital defects are a rare condition However, these anomalies are frequently associated with chromosomal defects and nonchromosomal syndromes KEY POINTS • IOD measurement is required to diagnose hypertelorism and hypotelorism • Hypertelorism is highly associated with nonchromosomal syndromes • Hypotelorism is highly associated with holoprosencephaly and trisomy 13 SUGGESTED READINGS DeMyer W Orbital hypertelorism In: Vinken PJ, Bruyn GW, eds Handbook of clinical neurology Amsterdam: Elsevier/North Holland Biomedical Press; 1977:235 DeMyer W Holoprosencephaly (cyclopia-arhinencephaly) In: Vinken PJ, Bruyn GW, eds Handbook of clinical neurology Amsterdam: Elsevier/North Holland Biomedical Press; 1977:431 Paladini D, Volpe P Craniofacial and neck anomalies In: Ultrasound of congenital fetal anomalies: differential diagnosis and prognostic indicators London: Informa Healthcare; 2007:63 All references are available online at www.expertconsult.com ... Prenat Diagn 20 02; 22: 85 1-8 55 Jeanty P, Dramaix-Wilmet M, Van Gansbeke D, et al Fetal ocular biometry by ultrasound Radiology 19 82; 143:51 3-5 16 Robinson AJ, Blaser S, Toi A, et al MRI of the fetal eyes:... Ultrasound Obstet Gynecol 20 05 ;25 (1):1 2- 1 8 11 Campbell S Prenatal ultrasound examination of the secondary palate Ultrasound Obstet Gynecol 20 07 ;29 (2) : 12 4-1 27 12 Faure JM, Captier G, Baumler M, et al... microcephaly10 and Meckel-Gruber A B Fig 66.3 (A) Moderate hypotelorism in a 24 -week-old fetus with a decreased interocular distance, holoprosencephaly, and arhinia (B) Severe hypotelorism in a 13-week-old