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Prenatal ultrasonography of craniofacial abnormalities
Annisa Shui Lam Mak, Kwok Yin Leung
Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong SAR, China
Corresponding Author: Kwok Yin Leung ,Tel: +852-3506 6398, Fax: +852-2384 5834, Email: leungky1@ha.org.hk
Received: May 29, 2018;  Accepted: July 3, 2018.  Published online: July 3, 2018.
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ABSTRACT
Craniofacial abnormalities are common. It is important to examine the fetal face and skull Epub ahead of print during prenatal ultrasound examinations because abnormalities of these structures may indicate the presence of other, more subtle anomalies, syndromes, chromosomal abnormalities, or even rarer conditions, such as infections or metabolic disorders. The prenatal diagnosis of craniofacial abnormalities remains difficult, especially in the first trimester. A systematic approach to 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 3-/4-dimensional ultrasound may be useful in the assessment of cleft palate and craniosynostosis. Fetal magnetic resonance imaging can facilitate the evaluation of the palate, micrognathia, cranial sutures, brain, and other fetal structures. Invasive prenatal diagnostic techniques are indicated to exclude chromosomal abnormalities. Molecular analysis for some syndromes is feasible if the family history is suggestive.
Keywords: Craniofacial; Prenatal; Ultrasound; Three-dimensional ultrasonography; Fetal strucutal abnormalities
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