Diagnosis Of Cleft Palate Research Articles

MRI for Definitive In Utero Diagnosis of Cleft Palate: A Useful Adjunct to Antenatal Care?

To assess the use of fetal magnetic resonance imaging (MRI) in obtaining a definitive prenatal diagnosis of cleft palate. All expectant mothers with a sonographically diagnosed fetal cleft lip or a previously affected child with cleft palate were offered antenatal MRI at around 34 weeks' gestation. Images were interpreted by a consultant radiologist who was blinded to the ultrasound diagnosis. Two MRI readings were performed: one at the time of examination and one at the end of the study to elicit the radiologist's learning curve. MRI findings were correlated with the birth diagnosis. Tertiary referral center for facial clefts--the Spires Cleft Centre, Oxford Children's Hospital, Oxford, United Kingdom. Study participants included 49 pregnant women between 24 and 37 weeks' gestation, four with a family history of cleft posterior palate and 45 with a facial cleft on a 20-week ultrasound. The positive predictive value of fetal MRI for involvement of the palate was 96%, and the negative predictive value was 80%. The accuracy in predicting palatal clefting of four different MRI signs is discussed. The radiologist's interpretation skills significantly improved between the two MRI readings. Fetal MRI enables us to predict accurately the extent of a cleft palate after an ultrasound diagnosis of cleft lip. With more accurate diagnosis of the severity of the cleft, we can counsel patients more precisely and plan postnatal management correctly.

OP18.07: Isolated cleft lips: interest of ‘Cupid's bow’

Objectives: To evaluate usefulness of sagittal CDUS images for the differential diagnosis of fetal cleft lip (CL) and cleft palate (CP). Methods: We got coronal and axial images of upper lip and maxillary alveolar in 25 fetuses with CL and CP. Existence of defect and malalignment of alveolar was assessed. We assessed existence of hard palate defect on the mid-sagittal image and flow through the defect on CUDS during fetal swallowing. We compared the US findings with postnatal features. We assessed the accuracy of axial and sagittal images in the differential diagnosis of CL and CP. Results: 19 cases had CL and CP. 6 cases had CL without CP. 3 of 6 CL cases had cleft alveolar. Alveolar defect on axial image was detected in 18 of 19 cases with CP and 3 of 6 with CL. Alveolar malalignment was detected in 11 of 19 cases with CP, but in no case with CL. Hard palate defect on the sagittal image was detected in 15 of 19 cases with CP, but in no case with CL. CDUS evaluation of fetal swallowing was possible in 20 of 25 cases. Communicating flow through the palate defect was detected in 14 of 15 cases with CP, but in no case with CL. The accuracy of alveolar defect and malalignment on axial image were 84% and 68%, respectively. Accuracy of hard palate defect and flow on mid-sagittal image were 84% and 95%, respectively. Combined axial and sagittal images correctly diagnosed in all 6 cases with CL and 18 of 19 cases with CP. The accuracy was 96%. Conclusions: Sagittal US evaluation of the fetal hard palate may have additional value in the differential diagnosis of fetal CL and CP.

Retronasal triangle: a sonographic landmark for the screening of cleft palate in the first trimester

To describe a new first-trimester sonographic landmark, the retronasal triangle, which may be useful in the early screening for cleft palate. The retronasal triangle, i.e. the three echogenic lines formed by the two frontal processes of the maxilla and the palate visualized in the coronal view of the fetal face posterior to the nose, was evaluated prospectively in 100 consecutive normal fetuses at the time of routine first-trimester sonographic screening at 11 + 0 to 13 + 6 weeks' gestation. In a separate study of five fetuses confirmed postnatally as having a cleft palate, ultrasound images, including multiplanar three-dimensional views, were analyzed retrospectively to review the retronasal triangle. None of the fetuses evaluated prospectively was affected by cleft lip and palate. During their first-trimester scan, the retronasal triangle could not be identified in only two fetuses. Reasons for suboptimal visualization of this area included early gestational age at scanning (11 weeks) and persistent posterior position of the fetal face. Of the five cases with postnatal diagnosis of cleft palate, an abnormal configuration of the retronasal triangle was documented in all cases on analysis of digitally stored three-dimensional volumes. This study demonstrates the feasibility of incorporating evaluation of the retronasal triangle into the routine evaluation of the fetal anatomy at 11 + 0 to 13 + 6 weeks' gestation. Because fetuses with cleft palate have an abnormal configuration of the retronasal triangle, focused examination of the midface, looking for this area at the time of the nuchal translucency scan, may facilitate the early detection of cleft palate in the first trimester.

Three‐dimensional ultrasound diagnosis of cleft palate: ‘reverse face’, ‘flipped face’ or ‘oblique face’–which method is best?

To compare the performance of three sonographic techniques, the 'reverse-face', 'flipped-face' and 'oblique-face' methods, for visualizing the hard and soft palate in diagnosing cleft lip and palate (CLP). A total of 60 fetuses (10 with CLP) with a gestational age ranging from 20 to 33 weeks were examined. We compared visualization of the secondary palate with the previously described reverse-face and flipped-face methods (the latter modified by us) and the oblique-face method developed by us using Oblique View imaging technology. Among the 10 fetuses with CLP the defect involved the lip, alveolus and secondary palate in seven, and the primary palate only in the remaining three. The upper lip and alveolar ridge were well visualized in all cases with all three methods. Involvement of the hard palate was diagnosed correctly in 71% (5/7) of the cases using the reverse-face view, in 86% (6/7) with the flipped-face view, and in 100% (7/7) with the oblique-face view; the hard palate was correctly found to be intact in 78%, 84% and 86%, respectively, of the 50 normal fetuses examined with each view. Involvement of the soft palate was diagnosed correctly in only one of the seven fetuses with defects of the secondary palate in flipped-face and oblique-face views, and was correctly considered intact in only 16% of normal fetuses in flipped-face view and in 26% in oblique-face images. Accurate visualization of the soft palate requires an excellent initially acquired volume, fluid between the fetal tongue and palate, and curving of the plane to follow the structure of the palate. The oblique-face or flipped-face views make it possible to visualize the soft palate well in selected cases.

OP02.04: Ultrasound examinations for detecting congenital defects in diabetic pregnancies

Objective: To establish the accuracy of prenatal diagnosis by comparing diagnoses made in Fetal Medicine compared to those made after birth until hospital discharge. Methods: All cases seen in Fetal Medicine between 01/06/04 and 01/12/05 were collected and sorted according to diagnosis. Relevant outcome data on all these pregnancies were obtained from electronic and written sources. Women still not delivered were excluded from this initial analysis (195 cases), but will be available by the time of presentation. Otherwise follow-up is 100% complete. Results: 678 women were seen in the Fetal Medicine Unit, which involved 1256 visits, and 382 procedures. 483 (71.2%) had delivered by the time of this analysis. Of these, 282 were found to have no abnormality, 40 had minor abnormality, and 161 had major abnormality prenatally. Those cases with major abnormalities had a livebirth rate of 55.3% versus 94.5% in those with no abnormalities. With regard to accuracy of diagnosis, 398 livebirths were studied. The prenatal diagnosis was confirmed in 91.2%, while abnormalities that resolved accounted for 8%. Missed extra diagnosis which led to a significant clinical effect accounted for 0.8% cases. Conclusion: The accuracy of prenatal diagnosis in a tertiary Fetal Medicine Unit is very high, which is an important standard, clinicians and patients should expect. The missed diagnosis rate of 0.8% can be explained by present limitations in the diagnosis of cleft palate, esophageal and anal atresia, and other dysmorphic features, which are notoriously difficult to diagnose prenatally. This limitation in prenatal diagnosis should be explained to parents.

OP02.03: Audit of outcome and accuracy of prenatal diagnosis in a tertiary fetal medicine unit

To establish the accuracy of prenatal diagnosis by comparing diagnoses made in Fetal Medicine compared to those made after birth until hospital discharge. All cases seen in Fetal Medicine between 01/06/04 and 01/12/05 were collected and sorted according to diagnosis. Relevant outcome data on all these pregnancies were obtained from electronic and written sources. Women still not delivered were excluded from this initial analysis (195 cases), but will be available by the time of presentation. Otherwise follow-up is 100% complete. 678 women were seen in the Fetal Medicine Unit, which involved 1256 visits, and 382 procedures. 483 (71.2%) had delivered by the time of this analysis. Of these, 282 were found to have no abnormality, 40 had minor abnormality, and 161 had major abnormality prenatally. Those cases with major abnormalities had a livebirth rate of 55.3% versus 94.5% in those with no abnormalities. With regard to accuracy of diagnosis, 398 livebirths were studied. The prenatal diagnosis was confirmed in 91.2%, while abnormalities that resolved accounted for 8%. Missed extra diagnosis which led to a significant clinical effect accounted for 0.8% cases. The accuracy of prenatal diagnosis in a tertiary Fetal Medicine Unit is very high, which is an important standard, clinicians and patients should expect. The missed diagnosis rate of 0.8% can be explained by present limitations in the diagnosis of cleft palate, esophageal and anal atresia, and other dysmorphic features, which are notoriously difficult to diagnose prenatally. This limitation in prenatal diagnosis should be explained to parents.

Ultrasound antenatal diagnosis of cleft palate by a new technique: the 3D ‘reverse face’ view

To assess the clinical value of a novel three-dimensional (3D) ultrasound technique, the reverse face view (3D RF view), in the antenatal categorization of facial clefting and in particular clefting of the hard palate. Eight cases of suspected orofacial clefting were examined by 3D surface rendering. The fetal lips and alveolar ridge were examined in the frontal plane and the face was then rotated through 180 degrees on the vertical axis to examine the secondary palate by the 3D RF view. In each case described, we were able to visualize the fetal face, lips and palate and make an antenatal diagnosis as to whether the palate was affected. In all cases, the antenatal diagnosis was subsequently confirmed. In one case with a left-sided cleft in the lips and alveolar ridge and an intact hard palate, the correct diagnosis was made but a cleft in the soft palate was missed. Although clefts of the lips and alveolar ridge are readily diagnosed on high-quality antenatal ultrasound, visualization of the fetal palate using existing techniques is unreliable. In the patients described here, the 3D RF technique allowed relatively straightforward assessment of the fetal palate with a high degree of accuracy.

Parallel universes

Parallel universes

The value of multislice spiral CT in the pre-operative diagnosis of cleft palate

目的 将多层螺旋CT技术应用于腭裂术前诊断,探讨其实用价值.方法对20例腭裂病人在手术前后都进行薄层(1.25 mm/4i)轴面扫描,并进行CT仿真内窥镜(CTVE)成像和在轴面上对腭裂的裂隙进行测量.结果20例腭裂中10例软硬腭裂(Ⅱ度腭裂),软腭处的裂隙在1.5～2.2 cm之间,软硬腭处的裂隙在1.2～2.0 cm之间;3例右侧完全腭裂软腭处的裂隙在2.0～2.5 cm之间,软硬腭处的裂隙则为2.0～2.4 cm,硬腭处的裂隙为1.8～2.2 cm;5例左侧完全腭裂(Ⅲ度腭裂),软腭处裂隙在1.2～1.8 cm,软硬腭处的裂隙在0.9～2.0 cm,硬腭处的裂隙则为0.9～1.8 cm;2例双侧完全腭裂,软腭处的裂隙分别为2.1 cm和2.3 cm,软硬腭处为1.8 cm和2.0 cm,硬腭处为1.9 cm和2.3 cm.结论多层螺旋CT在腭裂术前能很好地显示腭裂各部位的形态,特别是在轴面上能显示硬腭裂开的程度.能对各部位的裂隙进行精确的测量.CTVE能很好地、直观地显示腭裂的内表面形态,并能进行手术前后对比。

The three-dimensional reverse face (3D RF) view for the diagnosis of cleft palate.

Orofacial clefting (CL/P) is among the most common of congenital abnormalities, with an incidence of nearly 2/1000 births1. Because they arise from different embryological tissues, clefts of the lip (CL) and primary palate i.e. the alveolus and palate to the incisive foramen (CLA) can occur independently of clefts of the secondary palate (CP) and vice versa. In Denmark isolated CP accounts for 25% of the total cases of CL/P but surveys in other countries show that this rate varies and it has been reported to be over 50% in some European countries2–4. CL and CLA can be lateral, bilateral and medial and are due to a variety of failures of fusion of the maxillary swelling with the medial nasal process. CP is always midline and is the result of failure of the palatine processes to elevate or grow. The prognosis for CLA is also very different from that of CP, which is significantly more associated with difficulties of speech, hearing and feeding and (following surgery) mid-face protrusion. The majority of cases are multifactorial so prenatal diagnosis will primarily depend on careful screening with ultrasound. The effectiveness of screening for CL/P by ultrasound varies widely between series. Stoll et al.5 described how a systematic approach improved the detection rate of facial clefts from about 5% between 1979 and 1988 to over 26% during the years 1989–1998. Nevertheless, the rate of diagnosis of isolated CP is extremely low6 as a palatal defect will not be recognized on the standard obliqueface view that is routinely used to assess the upper lip and alveolar ridge, because shadowing of the palate by the densely bony ridge makes visualization difficult. Even the introduction of 3D technology which has improved the detection of CLA7–9 does not appear to improve visualization of the secondary palate10. In this issue’s Picture of the Month we show an image of CP visualized using a new ultrasound technique, the three-dimensional (3D) reverse face (3D RF) view which overcomes problems of shadowing and is simple, rapid and appears to be effective in visualizing the palate and palatal defects. We have carried out investigations using this technique with the GE Voluson 730 ultrasound machine (GE Medical Systems, Bedford, UK) which has Figure 1 Ultrasound image of a normal fetus using the three-dimensional reverse face view: the nasal cavity is situated between and just below the symmetrically placed orbits, and the intact palate is seen as a distinct horizontal line separating the nasal and the oral cavities.

Prenatal diagnosis of cleft palate by three-dimensional ultrasound

Prenatal diagnosis of cleft palate is very important to prenatal consultation and management after birth. To examine if three-dimensional (3-D) ultrasound (US) is an accurate diagnostic method for clinical use, we analyzed our experience in detecting cleft palate by 3-D US. From June 1996 to January 2000, 21 fetuses with facial clefts were scanned by 2-D US, as well as by 3-D US. The coronal and oblique planes were reconstructed by 3-D US to detect the cleft palate. In addition, level II US was performed to find any possibly associated anomalies. All the scans were recorded on optic disks for final analysis. In our study, the gestational age when prenatal diagnosis was made by US initially was between 20 and 34 weeks. The accuracy for prenatal diagnosis of cleft lip with or without cleft palate by 3-D US was 100%, which was superior to that by 2-D US ( p < 0.05). In addition, we proposed a novel method to evaluate the cleft palate systemically by 3-D US. In conclusion, from our study, fetuses with cleft lip combined with or without cleft palate can be easily differentiated by 3-D US. The reconstruction of coronal and oblique planes by 3-D US is a powerful tool for detecting cleft palate. (E-mail: fchang@mail.ncku.edu.tw)

Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries

Ultrasound scans in the mid-trimester of pregnancy are now a routine part of antenatal care in most European countries. Using data from registries of congenital anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of cleft lip with or without cleft palate (CL(P)) and cleft palate (CP). All CL(P) and CPs suspected prenatally and identified at birth in the period 1996-98 were registered from 20 Congenital Malformation Registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK, Ukraine. These registries followed the same methodology. A total of 709,027 births were covered; 7758 cases with congenital malformations were registered. Included in the study were 751 cases reported with facial clefts: 553 CL(P) and 198 CP. The prenatal diagnosis by transabdominal ultrasound of CL(P) was made in 65/366 cases with an isolated malformation, in 32/62 cases with chromosomal anomaly, in 30/89 cases with multiple malformations and in 21/36 syndromic cases. The prenatal diagnosis of CP was made in 13/198 cases. One hundred pregnancies were terminated (13%); in 97 of these the cleft was associated with other malformations.

Color Doppler ultrasound and prenatal diagnosis of cleft palate.

Color Doppler ultrasound and prenatal diagnosis of cleft palate.

Birth prevalence of cleft lip and palate in Colorado by sex distribution, seasonality, race/ethnicity, and geographic variation.

An epidemiologic study was designed to describe the association of potential risk factors with the occurrence of cleft lip and palate (CL/P) births in Colorado for the years 1982-1988. There were 307 children out of 381,175 live births identified, through birth certificate data, with a diagnosis of cleft palate or cleft lip with or without cleft palate. For this period, the birth prevalence was 0.81/1000. Male gender [odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.28, 2.04], white race (OR = 2.87, 95% CI = 1.52, 5.44), and non-metropolitan residence (OR = 1.59, 95% CI = 1.23, 2.05) were each associated with an excess risk of having a cleft abnormality of any type at birth. No differences in the occurrence of cleft lip and palate were observed by month of birth, altitude of county of residence, or in Hispanic compared with non-Hispanic newborns. Using information from the 1989 Colorado Registry for Children with Special Needs, there was little evidence of ascertainment bias on major factors of interest for the birth certificate data. Further studies are required to define the factors associated with excess risk of CL/P in non-metropolitan areas.

Cleft palate: Confirmation of prenatal diagnosis by colour Doppler ultrasound

We present a case of a twin with trisomy 47,XX+i(9p) in whom the diagnosis of cleft palate was confirmed by colour Doppler imaging demonstrating abnormal fluid flow across the fetal pharyngeal bone defect. Application of this technique in cases predisposed for this congenital lesion may prove beneficial in the diagnosis of the more subtle types of isolated cleft palate.

Prenatal diagnosis of cleft palate: contribution of color Doppler ultrasound.

The antenatal diagnosis of cleft palate by ultrasound can sometimes be difficult by conventional B-mode imaging, especially when the tongue is in its normal position. We describe two cases which illustrate the value of color Doppler in the antenatal diagnosis of cleft palate. In the first case, at 32 weeks' gestation, there was a large defect with a massive passage of flow extending from the buccal cavity into one of the nasal fossae. In the second case, at 22 weeks' gestation, a parasagittal view demonstrated the fetal tongue to be in the normal position, but there was an abnormal trajectory off low from the buccal cavity into one of the nasal fossae followed by an exit at the level of the cleft. Although a cleft lip was demonstrated on B-mode imaging, we would not have been able to make the diagnosis of cleft palate without color Doppler. This is the first report describing the contribution of color Doppler to the antenatal diagnosis of cleft palate.

Palate development.

In all vertebrates, the secondary palate arises as bilateral outgrowths from the maxillary processes. In birds and most reptiles, these palatal shelves grow initially horizontally, but do not fuse with each other resulting in physiological cleft palate. In crocodilians, shelf fusion occurs resulting in an intact secondary palate. Mammalian palatal shelves initially grow vertically down the side of the tongue, but elevate at a precise time to a horizontal position above the dorsum of the tongue and fuse with each other to form an intact palate. Palatal shelf-elevation is the result of an intrinsic shelf elevating force, chiefly generated by the progressive accumulation and hydration of hyaluronic acid. In all vertebrates the nasal epithelium differentiates into pseudostratified ciliated columnar cells and the oral epithelia differentiates into stratified squamous cells, but the medial edge epithelial (MEE) phenotype differs in different groups. In mammals, the MEE of opposing shelves adhere to each other to form an epithelial seam which then disrupts by cell death and cell migration into the mesenchyme accompanied by an epitheliomesenchymal transformation. In birds, the MEE keratinize resulting in cleft palate whereas, in alligators, the MEE migrate onto the nasal aspect of the palate. In all vertebrates, this regional, temporal and species-specific epithelial differentiation is specified by the underlying mesenchyme. Signalling of this interaction is complex but involves both extracellular matrix and soluble factors e.g. minor collagen types, tenascin, EGF, TGF alpha, TGF beta, PDGF, FGF. These soluble growth factors have a biphasic effect: directly on the epithelia and on the mesenchyme where they stimulate or inhibit cell division and synthesis of specific extracellular matrix molecules. The extracellular matrix molecules (and bound growth factors) synthesized by the mesenchymal cells may then directly affect the epithelium. These signals cause differential gene expression via second messenger systems e.g. cAMP, cGMP, Ca2+, pH, pI etc. Molecular markers for nasal, medial and oral epithelial cell differentiation include the types of cytokeratin intermediate filaments and specific cell surface molecules recognized by monoclonal antibodies: the genes for such molecules are probably expressed in response to mesenchymal signals. Using such an approach, it is possible to go from a morphological description of palate development to a cellular analysis of the mechanisms involved and then to identification of candidate genes that may be important for screening and diagnosis of cleft palate.

Review of cleft palate diagnosis and an evaluation of lateral neck roentgenography: J. Orton Goodsell, Paul R. Noble, Catherine Furbee, and Anita Wendt. Oral Surg., Anesth. & Hosp. D. Serv. 21: 469–491, November, 1963

Review of cleft palate diagnosis and an evaluation of lateral neck roentgenography: J. Orton Goodsell, Paul R. Noble, Catherine Furbee, and Anita Wendt. Oral Surg., Anesth. & Hosp. D. Serv. 21: 469–491, November, 1963