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Prenatal ultrasonography of craniofacial abnormalities
Shui Lam Annisa Mak, Kwok Yin Leung
Queen Elizabeth Hospital , Hong Kong, Hong Kong
Corresponding Author: Kwok Yin Leung ,Tel: 852-35066398, Fax: 3506-23845384, Email: Leungky1@ha.org.hk
Received: May 29, 2018;  Accepted: July 3, 2018.  Published online: July 3, 2018.
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Craniofacial abnormalities are common. It is important to examine the fetal face and skull during prenatal ultrasound examinations because the abnormalities of these structures may indicate the presence of other, more subtle anomalies, syndromes, chromosome abnormalities or even more rare conditions like infections or metabolic disorders. Prenatal diagnosis of craniofacial abnormalities remains difficult, especially in the first trimester. A systematic approach of the fetal skull and face can increase the detection rate. When an abnormality is found, it is important to perform a detailed scan to determine its severity and search for additional abnormalities. The use of 3D/4D ultrasound may be useful in the assessment of cleft palate, and craniosynostosis. Fetal MRI can facilitate the evaluation of the palate, micrognathia, cranial sutures, brain and other fetal structures. Invasive prenatal diagnosis is indicated to exclude chromosome abnormalities. Molecular analysis in some syndromes is feasible when the family history is informative.
Keywords: Fetal; Craniofacial; Ultrasonography
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