and Marcelo Zugaib4
São Paulo University, Bauru, Brazil
Parisian University, Bauru, France
Member of International Fetal Medicine and Surgery Society, Bauru, Brazil
Obstetrics, University of São Paulo, Bauru, Brazil
Facial malformations have great importance in fetal morphology because these are relatively frequent and may be associated with central nervous system malformations. Also, they participate in numerous genetic diseases for which they work as initial markers (otopalatodigital syndrome, for example). Of this group of pathological conditions, facial clefts and cleft lips are the most frequent.
Fortunately, most facial malformations are isolated and amenable to surgical correction. When associated with other malformations they are related to fetal aneuploidy, especially Patau syndrome (trisomy 13).
Evaluation of the fetal face is part of morphological ultrasound, which must be done systematically and repeatedly. The identification of the orbits is achieved in the first trimester, around 10–11 weeks, but the definitive diagnosis of microphthalmos is made later. At around 13–14 weeks, the fetal profile, nose, maxilla, mandible, and orbits can be assessed (Figs. 5.2, 5.3, 5.4, 5.5, 5.6 and 5.7).
Median sagittal view of a normal fetal face, showing the relationship among the maxilla, mandible, and forehead (line). The definition of retrognathism or prognathism is given when the chin is far behind or ahead of this imaginary line
Median sagittal incidence of a normal fetal face, highlighting the extent of a normal nasal bone (arrow). Remember that a small oblique sagittal section is also useful for measuring the fetal nasal bones, because these are pyramidal in shape
Sagittal incidence of a normal fetal face. Observe the normal relationship among the maxilla, mandible, and nose (line). Fetuses with Down syndrome, for example, may have an abnormal protrusion of the inferior lip
Sagittal incidence of a normal fetal face, especially with the arrows indicating ossification of the palate
Median sagittal view of a normal fetal face, in the third trimester, showing the normal relationship among the frontal bone, maxilla, and mandible, and the soft tissues
Sagittal incidence of a normal fetal face in the second trimester
Sagittal section of a normal fetal face, showing that variations in the fetal profile sections may exist, anatomical, individual or racial
Section at the upper dental arch level (arrows) showing the integrity of the same, with the arch formed by the alveoli of the incisors without interruption. UL = upper limb
Cross-section of the fetal maxilla in cases of median cleft lip, where an interruption of the maxillary arch is observed, featuring fetal cleft palate. The small arrows show the dental alveoli and the large arrow, the defect in the maxillary arch and palate. FH = fetal head, AR = arm, R = radius
Cross-section of the fetal head at the level of the maxillary arch at 30 weeks and 2 days of the pregnancy in another case of fetal cleft lip, already in a greater zoom, showing a cleft palate (arrow). A = dental alveoli, CU = umbilical cord
Cross-section view of the face at the level of the normal mandible (mandibular arch) (JTM = temporomandibular joint, arrows)
Sagittal paramedian view tangential to the skull at a level showing the normal ear in a second-trimester fetus (arrows), (top = placenta)
Same aspect as in Fig. 5.12, now at a higher magnification, showing a normal fetal ear (arrows). Some pathological conditions present abnormal aspects of the ear, but it is very difficult to use this sign in practice, except in cases of a missing ear. In our opinion, the diagnosis of low ear insertion is useless as a diagnostic tool in fetal medicine
Coronal section through the orbit of a second-trimester fetus, showing the eye lens (crystalline, arrow) in the bony orbit
Coronal section through soft tissues of the fetal face in the second trimester, obtained a little above that in Fig. 5.14, showing the normal appearance of the closed lid (arrows)
Facial coronal section at the level of the fetal nose to the chin showing a normal appearance with a superior intact lip (arrows) in a 21-week-old fetus. NOS = nostril