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KEY POINTS
The most frequent craniofacial malformations are facial clefts. Different varieties exist. These conditions can be corrected surgically with good results. However, they are frequently associated with other malformations and syndromes that may have a major influence on the prognosis.
In expert hands, facial clefts can be accurately identified and categorized with sonography from early gestation. Three-dimensional ultrasound may be helpful, and magnetic resonance can also be employed. However, the diagnosis is not simple, and indeed in standard sonographic examinations it is frequently missed.
Other craniofacial anomalies can be identified sonographically. The list is long and includes, among others, ocular anomalies such as microphthalmia and cataract, micrognathia and craniosynostosis. However, the diagnosis is generally difficult and is hampered by the progressive development of these conditions that frequently are still not present by the time the ultrasound examination is performed.
Modern ultrasound equipment and three-dimensional sonography in particular reveal many details of fetal craniofacial anatomy, and in some cases may allow the diagnosis of subtle dysmorphic features. Evaluation of the fetal face is important in the assessment of fetuses with extra-craniofacial anomalies because it may provide important clues to the diagnosis of syndromes.
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Craniofacial anomalies include a wide spectrum of malformations. They may be clinically relevant in themselves, may be associated with other congenital anomalies, or may be a part of a syndrome. Evaluation of the face is indeed an important part of the clinical genetic examinations that are performed postnatally. Therefore, any time a fetal anomaly is identified, the diagnostic workup should include, if technically possible, a detailed examination of the fetal face. Apart from obvious malformations, such exam may also identify subtle dysmorphism that may be crucial for a definitive diagnosis.
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Prenatal sonographic diagnosis of craniofacial anomalies is possible from early gestation.1–5 The accuracy of referral centers in the investigation of selected patients at increased risk is quite high,2–6 while the sensitivity of standard examinations in low-risk patients is low, in the range of 20% to 40%, with a general tendency to recognize facial malformations associated with other anomalies and to miss the isolated ones.7–10 However, until a few years ago, most national guidelines for the standard examination of fetal anatomy suggested only demonstration of orbits and eyes. More recently, the situation has changed and the recommendations now include visualization of the nose, lips, and chin,11 and this will probably have an impact on detection of craniofacial anomalies in the near future.
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IMAGING OF THE FETAL FACE
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With two-dimensional (2D) ultrasound (US), a combination of planes must be used to assess facial anomalies.1,2,6 Midgestation is probably the most favorable time to evaluate the fetal face. However, many details of facial anatomy can be identified as early as 11 weeks. In the third trimester of gestation, the examination fails frequently ...