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Early second‐trimester diagnosis of fetal otocephaly

2007; Wiley; Volume: 29; Issue: 4 Linguagem: Inglês

10.1002/uog.3956

1469-0705

C.‐P. Chen, Ting‐Yu Chang, Jian‐Pei Huang, W. Wang,

Tumors and Oncological Cases

In a recent issue of this journal, Cannie et al.1 reported the role of magnetic resonance imaging (MRI) in the field of fetal medicine and suggested that the true advantage of fetal MRI is the functional evaluation of the fetus. Here, we present the earliest application of MRI in the assessment of fetal otocephaly. A 41-year-old gravida 4, para 2 woman was referred to our hospital because of abnormal findings on an earlier scan. Ultrasound examination at 12 weeks' gestation and MRI at 15 weeks revealed an abnormal fetal face, synotia and agnathia (Figures 1 and 2). The fetal brain, heart and internal organs were normal. At 16 weeks' gestation, termination of pregnancy was performed and a 120-g fetus was delivered which presented with microstomia, agnathia, aglossia, synotia and otocephaly (Figure 3). The karyotype was normal male 46,XY. Postnatal three-dimensional computed tomography (CT) showed an otocephalic fetus with mandibular aplasia and ventromedial displacement of the low-lying temporal bones (Figure 4). Prenatal ultrasound scan at 12 weeks' gestation showing agnathia in the sagittal view (a) and synotia (arrows) in the coronal view (b). Prenatal magnetic resonance image at 15 weeks' gestation showing agnathia in the sagittal view (a) and synotia (arrows) in the axial view (b). The fetus at birth. Postnatal three-dimensional reconstructed computed tomographic image showing an otocephalic fetus with mandibular aplasia and ventromedial displacement of the low-lying temporal bones. Otocephaly, a severe malformation of the first and second branchial arches, is characterized by agnathia, microglossia and synotia2. Otocephaly has an estimated prevalence of less than one in 70 000 births3. Both hereditary and environmental factors are implicated as causative agents. Otocephaly may occur as an isolated malformation or in association with other anomalies such as cyclopia, holoprosencephaly, neural tube defects, situs inversus totalis, absent adrenals, renal ectopia, horseshoe kidneys, vertebral and rib abnormalities, unilateral lung and congenital heart defects. We have reported the earliest prenatal diagnosis of otocephaly using prenatal ultrasonography and MRI. Fetal MRI has the advantage of functional evaluation of the fetus, especially in cases of otocephaly, in which multiple anomalies of the brain, heart, skeleton and internal organs may be found. Reconstructed CT images can reveal the detailed three-dimensional structure of the cranium in otocephaly. In conclusion, fetal ultrasound and MRI can detect otocephaly as early as 15 weeks' gestation, and postnatal reconstructed CT is a powerful instrument for studying congenital anomalies of the skull. This work was supported by research grant MMH-E-96004 from Mackay Memorial Hospital, Taipei, Taiwan. C.-P. Chen* ?, T.-Y. Chang*, J.-K. Huang?, W. Wang , * Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei 104, Taiwan, Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan, Department of Biotechnology and Bioinformatics, Asia University, Taichung, Taiwan, ? College of Chinese Medicine, China Medical University, Taichung, Taiwan, ? Department of Radiology, Mackay Memorial Hospital, Taipei, Taiwan