Carta Revisado por pares

Prenatal sonographic features of isolated cleft soft palate with anterior axial three‐dimensional view reconstruction

2008; Wiley; Volume: 31; Issue: 4 Linguagem: Inglês

10.1002/uog.5286

ISSN

1469-0705

Autores

Maria Angelica Zoppi, Rosa Maria Ibba, Carolina Axiana, Giovanni Monni,

Tópico(s)

Prenatal Screening and Diagnostics

Resumo

Prenatal diagnosis of isolated cleft soft palate by ultrasound imaging is rare1, 2. Diagnosis of cleft soft palate has been reported in a fetus with Fryn's syndrome using three-dimensional (3D) thick-slice sonography and magnetic resonance imaging3. Recently, novel 3D ultrasound techniques have been described to assess the normal fetal posterior palate4-7. In particular, anterior axial 3D reconstruction rendering of the fetal palate can provide important diagnostic information about the integrity of the secondary palate6. We report the specific prenatal sonographic features of a case of isolated cleft soft palate that was retrospectively diagnosed on postnatal analysis of stored ultrasound volumes. A 38-year-old woman (gravida 4, para 1) was referred for a second-trimester anomaly scan at the Ospedale Microcitemico, Cagliari, Italy, because she, her father and her first child were all born with an isolated cleft soft palate. First-trimester screening, with nuchal translucency measurement, was normal and the fetal karyotype, obtained by chorionic villus sampling, was 46,XY. An anomaly scan was performed at 21 + 5 weeks, with particular attention paid to the fetal facial and cranial anatomy, using two-dimensional (2D) ultrasound examination (Voluson GE 730 Expert, GE Medical Systems, Kretz, Zipf, Austria) integrated with color Doppler imaging8. It showed normal fetal biometry, anatomy and amniotic fluid volume. Despite the high risk of cleft soft palate in the fetus, no abnormalities were detected by real-time survey. 3D/four-dimensional (4D) transabdominal ultrasound imaging was then performed. 3D volumes of the fetal face were obtained in the anterior axial view, with the probe oriented in front towards the alveolar ridge, using a technique similar to that subsequently described as ‘anterior axial 3D reconstruction rendering’ by Faure et al.6. The volumes of the fetal face were stored for further study. The woman was counseled about the risk of the presence of the malformation, despite the lack of sonographic detection of any abnormalities, and the pregnancy continued uneventfully. Elective Cesarean section was performed at 39 weeks (the woman's first child was also delivered by Cesarean section) and a boy weighing 3200 g was delivered. Isolated cleft soft palate was diagnosed after birth. After recent recognition of the use of anterior axial 3D reconstruction rendering to assess the normality of the fetal palate6, the stored volumes of the fetal face were re-examined using 4D View software (GE Medical Systems), which includes static volume contrast imaging (VCI)7. They were compared with the stored volumes of three other fetuses, which were obtained in the course of second-trimester screening for anomalies, with known outcomes of normal neonatal facial anatomy. The fetus with the postnatal diagnosis of cleft soft palate showed distinct sonographic features in comparison to the normal fetuses. An incisure in the posterior margin of the mildly echogenic tissues behind the posterior bony palate was evident in the case of cleft soft palate (Figure 1), but was absent in the other cases, in which the margin appeared continuous (Figure 2). Axial view of the palate of a fetus postnatally diagnosed with cleft soft palate. The image was obtained by offline analysis of the three-dimensional volume and using volume contrast imaging. The arrow indicates the incisure visible in the posterior margin of the soft palate. Axial views of the palates of three normal fetuses, examined by three-dimensional ultrasound with volume contrast imaging. Note the continuity of the posterior margin of the soft palate. In this high-risk case, although real-time 2D sonography did not reveal any sign of cleft soft palate, once the presence of neonatal cleft soft palate was known the study of stored volumes yielded images suggestive of the condition. Campbell et al., using the ‘reverse face 3D view’ technique, identified a cleft soft palate in the stored volumes of a high-risk fetus taken at 20 weeks, after the presence of the malformation had been confirmed in the neonate. They did, however, raise some concerns about the ‘overinterpretation’ of images5. Similar doubts might be relevant to our findings, but this case adds to the evidence that 3D ultrasound, with offline analysis of stored volumes, has the potential to prenatally diagnose isolated cleft soft palate in fetuses at high risk. M. A. Zoppi*, R. M. Ibba*, C. Axiana*, G. Monni*, * Department of Obstetrics and Gynecology, Ospedale Microcitemico, Via Jenner, Cagliari, CA 09121, Italy

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