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 since early gestation. Three-dimensional (3D) ultrasound (US) may be helpful, and magnetic resonance imaging (MRI) can also be employed. However, the diagnosis is not simple, and indeed in standard sonographic examinations it is frequently missed.
In addition to facial clefts, other craniofacial anomalies can be identified sonographically. The list is long and includes ocular anomalies, such as microphthalmia, cataracts, micrognathia, and craniosynostosis. However, the diagnosis is generally difficult and is hampered by their progressive development.
Modern US equipment and 3D sonography in particular reveal many details of fetal craniofacial anatomy and may allow the diagnosis of even subtle dysmorphism. Evaluation of the fetal face is important in the assessment of fetuses with extracraniofacial anomalies because it may provide important clues to the diagnosis of syndromes.
Craniofacial anomalies are also discussed in Chapters 2 and 7.
Craniofacial anomalies include a wide spectrum of malformations. They may be clinically relevant as such, but they may also be associated with other congenital anomalies or be part of a syndrome. Evaluation of the face is indeed an important part of the clinical genetic examinations performed postnatally. Therefore, any time a fetal anomaly is identified during an antenatal US scan, the diagnostic workup should include a detailed examination of the fetal face. Apart from obvious malformations, a prenatal sonogram may also identify subtle dysmorphisms that may be crucial for a definitive diagnosis.
Prenatal sonographic diagnosis of craniofacial anomalies is possible in early gestation.1,2,3,4,5 The diagnostic accuracy of referral centers in the investigation of selected patients at increased risk is quite high,2,3,4,5,6 whereas the sensitivity of standard examinations of 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.7,8,9,10 However, until a few years ago, most national guidelines for the standard examination of fetal anatomy suggested only demonstration of the orbits and the eyes. More recently, the recommendations include visualization of the nose, lips, and chin, with an expected positive impact on the detection of craniofacial anomalies.
IMAGING OF THE FETAL FACE
With two-dimensional (2D) US, a combination of planes must be used to assess facial anomalies.1,3,6 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 postmenstrual weeks. In the third trimester, ...