US Assessment of the Fetal Head and Neck: A State-of-the-Art Pictorial Review

Abstract

When attention is paid to the details of normal and abnormal fetal head and neck anatomy, abnormalities that normally would be missed at prenatal ultrasonography can routinely be diagnosed. Five basic views are used to assess the fetal head and neck: a transverse view of the head in the plane of the cavum septum pellucidum and cerebellum, a sagittal and a coronal view of the face to visualize the nose and lips, a sagittal view of the cervical spine, and a transverse view of the orbits to measure the biorbital and interorbital distances. Thickened nuchal fold, a common sign of Down syndrome, can be assessed with transverse images of the head. Transverse views are also useful to demonstrate cystic hygroma, occipital meningocele, and encephalocele, all of which can be associated with other severe anomalies. Micrognathia, cleft lip and palate, and macroglossia, which are best depicted with sagittal and coronal views of the face, are also associated with other fetal abnormalities. Visualization of these entities should prompt further search and amniocentesis. Lymphangioma of the tongue appears similar to macroglossia but is an isolated anomaly. Transverse views through the orbits are helpful for demonstrating orbital teratoma, orbital encephalocele, and hypo- and hypertelorism (the latter two being associated with other abnormalities). Sagittal views of the neck can demonstrate cystic hygroma, teratoma, and an enlarged thyroid.

Teratomas of the neck and mediastinum in children

“…Plain X-rays and ultrasonography reveal solid and cystic structures within a heterogeneous mass with calcifications in up to 50% of cases [17][18][19][20][21][22][23][24]. The extent of vascularization can be assessed by Doppler flow imaging [25].…”

Antenatal Sonographic Diagnosis of A Case of Alobar Holoprosencephaly: A Case Report

“…Studying the strong association between facial anomalies and holoprosencephaly, DeMeyer commented "brain malformations can be predicted by patient's face" [4]. The severest facial malformation like cyclopia, ethmocephaly and cebocephaly occurred only with alobar holoprosencephaly [5] with semilobar and lobar types showing milder facial anomalies .These are hypotelorism, median cleft lip and palate, lateral cleft lip and palate and pyriform aperture stenosis [5][6][7]. However the face may even be almost normal in few cases of alobar holoprosencephaly as in our case.…”

Prenatal diagnosis of craniomaxillofacial malformations: a characterization of phenotypes in trisomies 13, 18 and 21 by ultrasound and pathology

“…Micrognathia occurs secondary to abnormalities of the first branchial arch caused by deficiency or insufficient migration of neural crest cells in the fourth week of gestation (Mernagh et al, 1999). Besides trisomies 13 and 18, micrognathia is often part of other syndromes or sequences, such as Treacher Collins syndrome, Goldenhar syndrome, and Seckel or Pierre Robin sequence (Nicolaides et al, 1993b;Bromley and Benacer-raf, 1994).…”