Prenatal Ultrasonography Of Craniofacial Abnormalities
Prenatal ultrasonography of craniofacialabnormalitiesAnnisa Shui Lam Mak, Kwok Yin LeungDepartment of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong SAR,ChinaREVIEW ARTICLEhttps://doi.org/10.14366/usg.18031pISSN: 2288-5919 eISSN: 2288-5943Craniofacial abnormalities are common. It is important to examine the fetal face and skullduring prenatal ultrasound examinations because abnormalities of these structures may indicatethe presence of other, more subtle anomalies, syndromes, chromosomal abnormalities, or evenrarer conditions, such as infections or metabolic disorders. The prenatal diagnosis of craniofacialabnormalities remains difficult, especially in the first trimester. A systematic approach to the fetalskull and face can increase the detection rate. When an abnormality is found, it is importantto perform a detailed scan to determine its severity and search for additional abnormalities.The use of 3-/4-dimensional ultrasound may be useful in the assessment of cleft palate andcraniosynostosis. Fetal magnetic resonance imaging can facilitate the evaluation of the palate,micrognathia, cranial sutures, brain, and other fetal structures. Invasive prenatal diagnostictechniques are indicated to exclude chromosomal abnormalities. Molecular analysis for somesyndromes is feasible if the family history is suggestive.Keywords: Craniofacial; Prenatal; Ultrasound; Three-dimensional ultrasonography;Fetal structural abnormalitiesIntroductionCraniofacial abnormalities are common. In particular, the prevalence of facial clefts andcraniosynostosis is around 0.15% and 0.05%, respectively [1-4]. Antenatal ultrasonography is anaccurate and reliable tool for detecting these malformations [5]. It is important to examine the fetalface and skull during prenatal ultrasound examinations because abnormalities of these structuresmay indicate the presence of other, more subtle anomalies, syndromes, chromosomal abnormalities, oreven rarer conditions, such as infections or metabolic disorders. Whenever a craniofacial abnormalityis found, it is important to perform a detailed scan to screen for additional anomalies. Additionaluse of 3-/4-dimensional (3D/4D) ultrasonography or fetal magnetic resonance imaging (MRI) mayfacilitate searching for or precisely delineating certain anomalies [6,7]. Further investigations,including invasive prenatal diagnostic techniques, may be indicated for chromosomal studies ormolecular testing.The detection rate of craniofacial abnormalities varies depending on the type of abnormality, itsseverity, gestational age, associated anomalies, and the techniques and technology of the ultrasoundexaminations. The prenatal diagnosis of some abnormalities, such as craniosynostosis, remainse-ultrasonography.orgUltrasonography 38(1), January 2019Ultrasonography 2019;38:13-24Received: May 29, 2018Revised: June 30, 2018Accepted: July 3, 2018Correspondence to:Kwok Yin Leung, MBBS, MD, FRCOG,Cert HKCOG (MFM), Department ofObstetrics and Gynaecology, QueenElizabeth Hospital, Gascoigne Road,Kowloon, Hong Kong SAR, ChinaTel. 852-3506 6398Fax. 852-2384 5834E-mail: leungky1@ha.org.hkThis is an Open Access article distributed under theterms of the Creative Commons Attribution NonCommercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted noncommercial use, distribution, and reproduction inany medium, provided the original work is properlycited.Copyright 2019 Korean Society ofUltrasound in Medicine (KSUM)How to cite this article:Mak ASL, Leung KY. Prenatal ultrasonographyof craniofacial abnormalities. Ultrasonography.2019 Jan;38(1):13-24.13
Annisa Shui Lam Mak, et al.low [8]. Nonetheless, over-diagnosis should be avoided becausemost fetuses with isolated brachycephaly or dolichocephalyhave normal outcomes. Various professional societies, includingInternational Society of Ultrasound in Obstetrics and Gynecology(ISUOG), American Institute of Ultrasound in Medicine, and the Asiaand Oceania Federation of Obstetrics & Gynecology have issuedguidelines on the examination of the face and skull in the secondtrimester anomaly scan [9-11]. In recent years, examining the fetalcraniofacial structures in the first-trimester sonography examinationhas been recommended [10,12]. The main purpose of this review is toprovide up-to-date information on prenatal sonography of craniofacialabnormalities, with the goal of increasing diagnostic accuracy.structures are examined [10]. The skull has an oval shape andcontinuous echogenic structure interrupted only by narrowecholucent sutures. Abnormal features (Figs. 1-3) and associatedabnormalities are shown in Table 1.The prenatal ultrasound diagnosis of craniosynostosis is difficult.It can be made directly when there is a loss of hypoechogenicity in asegment of the normal skull sutures, together with enlargement ofother orthogonal sutures [13]. Indirect signs, including an abnormalcephalic index (CI), cranial shape (Table 2), and/or face morphologyHSkullThe size, shape, integrity, and bone density of the skull can beassessed when the head size is measured and when the brainTable 1. Abnormal ultrasonographic features of the skull andassociated mal lyNot oval, like a lemon,strawberry, or cloverleafDefect in the skull bone withprotrusion of brain tissueAbsence of echogenicity,skull easily compressedSpina bifida, trisomy 18, orskeletal dysplasiaEncephalocelePoor mineralization, such asosteogenesis imperfecta orhypophosphatasiaHFig. 1. A second-trimester fetus with trigonocephaly. Axial view ofthe fetal head (H) shows a triangular shaped forehead (arrowheads).14Fig. 2. A second-trimester fetus with brachycephaly. Axial viewof the fetal head (H) shows the shape of the skull is shorter thantypical (arrowheads).HFig. 3. A second-trimester fetus with scaphocephaly. Axial viewof the fetal head (H) shows a long (arrowheads) and narrow head(arrows).Ultrasonography 38(1), January 2019e-ultrasonography.org
Craniofacial abnormalitiesTable 2. Different types of craniosynostosis and associatedabnormalitiesAbnormal shapeSuture synostosisAssociated abnormalitiesScaphocephaly/SagittalDolichocephaly (long)Brachycephaly (short,broad)-Bilateral coronalDown syndromePfeiffer syndromePlagiocephalyUnilateral coronal or(ipsilateral forehead or lambdoidoccipital flattening)-Trigonocephaly(forward pointing)MetopicJacobsen syndrome orOpitz C syndromeCloverleaf (trilobate)Sagittal, coronal, and Thanatophoric dysplasia,lambdoidApert syndrome, CrouzonsyndromeOxycephaly (pointedor conical)Sagittal andlambdoidCarpenter syndrome-such as hypotelorism or hypertelorism, may precede closure of thesutures by 4 to 16 weeks [8]. CIs below 70% or above 85% indicatedolichocephaly and brachycephaly, respectively [14]. Although theCI is lower in dolichocephalic fetuses, it may not be appropriate forsecond-trimester screening, and it may not detect trigonocephaly[15]. Further investigations including 3D ultrasonography or MRImay help to diagnose closure of the sutures [16].Measuring head size is important, as measurements of headcircumference more than 3 standard deviations below or 2 standarddeviations above the mean head circumference expected based ongestational age are a clue for the possible diagnosis of microcephalyor macrocephaly, respectively. However, using these reference valuesmay lead to the over-diagnosis of microcephaly [17]. There aredifficulties and pitfalls in diagnosing microcephaly based on headcircumference alone. Other supporting signs include a sloping forehead,flat occiput, or intracranial content that is abnormal or not visible.Table 3. Systematic examination of various facial structures and their reAbnormal featuresAbnormalitiesLipLoss of integrityFacial cleftMouthSmall or continuous, openMicrostomia or syndromesNoseFlat or one nostrilHypoplasia, single-nostril syndromesPalpebral fissureUpward or downward slantOrbitsSmall, absence, abnormal interocular diameterMicrophthalmia/anophthalmia, hypotelorism/hypertelorismMedial cystDacryocystoceleLensEchogenicCataractTooth budsCleft, abnormal numberCleft palate, aAbsent or double 'equals sign'Cleft uvulaEarsAbnormal size, shape, location, or rotationAbnormal earForeheadBossingSkeletal dysplasiaSlopingMicrocephalyAbnormal massProboscisFlatSyndromesNoseAbsence or short nasal boneAneuploidiesMaxillaPremaxillary protrusionBilateral facial cleftSoft palateNo soft palate or 'equals sign'Cleft soft palate, uvulaPhiltrumLong or shortSyndromesMandibleSmall chinMicrognathiaSymmetryAsymmetry of faceFacial asymmetryTongueLarge, protrusion, mass backward displacementMacroglossia, tumor glossoptosisEarsAbnormal size, shape, mass, or location or rotationSmall, dysplastic, absent, large, polyp, low-sete-ultrasonography.orgUltrasonography 38(1), January 201915
Annisa Shui Lam Mak, et al.FaceIt is preferable to systematically examine the fetal face in threeplanes to assess various facial structures because doing so facilitatesthe detection of abnormalities in those structures (Table 3) [18].According to the ISUOG guidelines, the minimum evaluation of thefetal face includes the presence of both orbits, evaluation of thenose/nostrils, presence of the mouth, and preferably an evaluationof the facial profile and lip [9].Cleft is diagnosed when there is a loss of integrity of the lip on one orboth sides on the coronal view (Figs. 4, 5). Bilateral cleft lip is suggestedby the presence of a premaxillary protuberance on the sagittal view(Fig. 6). It is difficult to diagnose incomplete cleft lip (Fig. 7), cleftNLFig. 6. A second-trimester fetus with a premaxillary protuberance.Sagittal view of the fetal face shows a soft tissue mass (arrow)protruding forward below the nose (N).Fig. 4. A second-trimester fetus with unilateral cleft lip. Coronalview of the fetal face shows a loss of integrity (arrow) of the upperlip (L).LLFig. 5. A second-trimester fetus with bilateral cleft lip. Coronalview of the fetal face shows a loss of integrity (arrows) of the upperlip (L) on both sides (1 and 2).16Fig. 7. A second-trimester fetus with partial unilateral cleftlip. Coronal view of the fetal face shows partial loss of integrity(arrowhead and arrow) of the upper lip (L).Ultrasonography 38(1), January 2019e-ultrasonography.org
Craniofacial abnormalitiespalate alone, or cleft soft palate [19]. Indirect sonographic signsof cleft palate may include a small or absent stomach bubble andpolyhydramnios. Using color flow, the flow of amniotic fluid can beseen, normally coming through the nostrils during respiratory activityor abnormally through the palate when it has a cleft. Absence of the"equals sign" is a sign of cleft palate [20]. A normal philtrum shouldnot be mistaken for a median cleft lip.The facial profile can be assessed on the mid-sagittal view. Inparticular, frontal bossing (Fig. 8), micrognathia (Fig. 9), or a flatnose (Fig. 10) can be detected. On the lateral side of the head,ear abnormalities (Fig. 11) can be assessed. Both eyes and theirabnormalities can be assessed on the axial view (Figs. 12-14).Micrognathia refers to a small mandible, while retrognathia is aposteriorly displaced mandible. Using the inferior facial angle andthe ratio of the mandible width to the maxilla width may help detectthese two abnormalities [21]. When there is a significant familyhistory or a suspected anomaly, measurements of fetal structures,such as nasal bone length, ear length, maxillary length, and ocularand interocular diameters can be performed.FHThree-Dimensional or Four-DimensionalUltrasoundFig. 8. A second-trimester fetus with bossing forehead. Midsagittal view of the fetal face shows a forward protuberance(arrowheads) of the forehead (FH).The use of 3D ultrasound, including surface rendering, multiplanar,and multi-slice views, allows a precise evaluation of variouscraniofacial structures and their abnormalities, including cleft palateNCFig. 9. A second-trimester fetus with micrognathia. Mid-sagittalview of the fetal face shows a small and receding (arrowheads) chin(C).e-ultrasonography.orgFig. 10. A second-trimester fetus with a flat nose. Mid-sagittalview of the fetal face shows a flat (arrow) nose (N).Ultrasonography 38(1), January 201917
Annisa Shui Lam Mak, et al.(Figs. 15, 16), and craniosynostosis [6,16,18,22]. The images canbe useful for counseling (Figs. 17, 18). Using 3D ultrasound (Figs.19, 20) can help differentiate closed from open sutures [22]. Theuse of 4D ultrasound can be used to assess facial expressions [23].Although high-quality 3D rendered images of the fetal face areimpressive to pregnant women, the use of 3D ultrasound does notreduce maternal anxiety [24]. The effect of 3D/4D ultrasound onmaternal-fetal bonding may be stronger than that of 2-dimensionalultrasound due to a higher level of visibility and recognition [25].The resolution of 3D ultrasound is limited when the fetus is leaningagainst the uterine wall or placenta or when the liquor is reduced.ELLFig. 11. A second-trimester fetus with an abnormal ear. Lateralsagittal view of the fetal face shows a small (arrows) right (R) ear (E)with loss of normal architecture.Fig. 12. A second-trimester fetus with hypotelorism. Axial view ofthe fetal face shows abnormally decreased distance (arrowheads)between the two orbits (circles).18Fig. 13. A second-trimester fetus with bilateral cataracts. Axialview of the fetal face shows echogenicity (arrowheads) in the lens (L)of both eyes.Fig. 14. A second-trimester fetus with a mass between the 2orbits. Axial view of the fetal face shows a soft tissue mass (arrows)protruding between the two orbits (circles).Ultrasonography 38(1), January 2019e-ultrasonography.org
Craniofacial abnormalitiesLLPPLLPLPLPPLLPPFig. 15. A second-trimester fetus with bilateral cleft lip and palate. Three-dimensional multi-slice axial view of the fetal face shows a lossof integrity (arrows) of the lip (L) and palate (P) on both sides.LLLPPPLLPPPPPPLFig. 16. A second-trimester fetus with midline cleft lip and palate. Three-dimensional multi-slice axial view of the fetal face shows a loss ofintegrity (arrows) of the lip (L) and palate (P) on the midline. Color boxes on the right side show the orientation of the active images on theleft: axial view (1), sagittal view (2), and coronal view (3).e-ultrasonography.orgUltrasonography 38(1), January 201919
Annisa Shui Lam Mak, et al.First-Trimester SonographyBetween 11 and 13 weeks 6 days of gestation, the ISUOGguidelines suggest measuring the biparietal diameter and the headcircumference, and assessing the integrity and echogenicity of theskull [12]. An attempt can be made to assess the orbits, interorbitaldistances, facial profile, ears, and the integrity of the mouth and lips[12]. A flat facial profile can be found in the first trimester (Fig. 21).However, some craniofacial abnormalities, such as craniosynostosis,cannot be diagnosed in the first trimester, and thus a secondtrimester anomaly scan remains the standard of care for fetalanatomical evaluation.unilateral or bilateral cleft lip, with or without cleft palate, mediancleft lip is caused by the incomplete merging of the two medialnasal prominences [28]. Median cleft lip is particularly likely tobe associated with other anomalies, chromosomal abnormalities,and poor outcomes [26,29]. Slash types of facial clefts caused byamniotic bands are usually severe [26].Further InvestigationsUltrasonographic images of some craniofacial abnormalities areillustrated (Figs. 1-19). When a cleft lip is found, it is essential todefine whether it is unilateral, bilateral, or midline, and whetherthere is any cleft plate or amniotic band, because the prognosisand associated conditions vary accordingly [26]. Combined cleftlip and palate is more common that cleft lip alone [27], and theassociated problems are more severe [26]. Unilateral/bilateral andmedian cleft lip are considered distinct conditions because theirembryological origins are different [28]. Whereas the complete orpartial lack of the fusion of the two lateral maxillary prominenceswith the medial nasal prominences on one or both sides results inLFig. 18. A second-trimester fetus with midline cleft lip. Threedimensional surface-rendered image of the fetal face shows a cleft(arrow) on the midline of the upper lip (L).LFBFig. 17. A second-trimester fetus with unilateral cleft lip. Threedimensional surface-rendered image of the fetal face shows a cleft(arrow) on 1 side of the upper lip (L).20FBFig. 19. A second-trimester fetus with a normal sagittal suture.Three-dimensional ultrasound surface-rendered image in skeletalmode of the frontal view of the fetal face shows a normal sagittalsuture (arrowheads), anterior fontanelle (arrow), and frontal bones(FB).Ultrasonography 38(1), January 2019e-ultrasonography.org
Craniofacial abnormalitiesAFCSFig. 20. A second-trimester fetus with craniosynostosis. Three-dimensional ultrasound surface-rendered image win skeletal mode of theaxial view of the fetal skull shows narrowing (arrows) of the coronal suture (CS) and part of the anterior fontanelle (AF).Whenever a craniofacial abnormality is found, it is importantto perform a detailed scan to search for additional anomalies,especially other potentially subtle facial, central nervous system,heart, or extremity malformations. Many craniofacial abnormalities,including facial clefts, micrognathia, craniosynostosis, hypertelorism/hypotelorism, microphthalmia/anophthalmia, cataracts, andanotia/microtia, are associated with a variety of syndromes andconditions (Table 4) [8,16,26,29-33]. In general, 10% of cleftswere accompanied by a chromosomal abnormality and 27%had associated anomalies [26,29,30]. Roughly 15% of cases ofcraniosynostosis are syndromic [8,16,33]. Protrusion of the tonguecan be a sign of Beckwith-Wiedemann syndrome or Down syndrome[30].e-ultrasonography.orgCNFHFig. 21. A first-trimester fetus with a flat facial profile. Sagittalview of the fetal face shows a flat forehead (FH) (arrow), nose (N)(arrowhead), and a receding chin (C) (curved arrow).Ultrasonography 38(1), January 201921
Annisa Shui Lam Mak, et al.Table 4. Syndromes associated with craniofacial abnormalitiesOtherabnormalitiesSyndromesFacial cleftHandsEctrodactyly, ectodermal dysplasia,clefting (EEC) syndrome, oral-facialdigital syndrome type IFacial cleftFace and heart CHARGE (coloboma, heart anomaly,choanal atresia, retardation, andgenital and ear anomalies) syndromeMicrognathiaEarGoldenhar syndromeMicrognathiaLimbOral-mandibular-limb hypogenesissyndrome, Nager syndrome, EECsyndrome, Roberts syndromeMicrognathiaFacePierre Robin sequence, TreacherCollins syndromeCraniosynostosis Face or limbApert syndrome, Crouzon syndrome,Carpenter syndrome, thanatophoricdysplasia, Pfeiffer syndrome, SaethreChotzen syndrome, Muenkesyndrome, Jackson-Weiss syndrome,Antley-Bixtler syndrome, WolfHirschhorn (4p) syndromeFetal MRI can facilitate the evaluation of the palate, micrognathia,cranial sutures, brain, and other fetal structures [16,34]. If CHARGE(coloboma, heart anomaly, choanal atresia, retardation, and genitaland ear anomalies) syndrome is suspected, fetal brain MRI can behelpful, but a normal result does not exclude the diagnosis [35].When fetal cataract, microphthalmia or anophthalmia, ormicrocephaly is found, maternal blood can be taken to screenfor congenital infections, including cytomegalovirus, rubella,toxoplasmosis, and varicella [36]. Zika virus is a possibility in at-riskareas [37].As some disorders are familial, taking a family history is important.Inquiring about exposure to some medications, such as valproic acid,warfarin, or thalidomide, may reveal the cause of a flattened nose orfacial cleft. Exposure to alcohol, drug use, or cigarette smoking arealso relevant.Invasive
Three-Dimensional or Four-Dimensional Ultrasound The use of 3D ultrasound, including surface rendering, multiplanar, and multi-slice views, allows a precise evaluation of various craniofacial structures and their abnormalities, including cleft palate Fig. 8. A second-trimester fetus with bossing forehead. Mid-
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