Ultrasonography.  2019 Jan;38(1):13-24. 10.14366/usg.18031.

Prenatal ultrasonography of craniofacial abnormalities

Affiliations
  • 1Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong SAR, China. leungky1@ha.org.hk

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.

Keyword

Craniofacial; Prenatal; Ultrasound; Three-dimensional ultrasonography; Fetal structural abnormalities

MeSH Terms

Brain
Chromosome Aberrations
Cleft Palate
Cranial Sutures
Craniofacial Abnormalities*
Craniosynostoses
Female
Fetus
Humans
Magnetic Resonance Imaging
Micrognathism
Palate
Pregnancy
Pregnancy Trimester, First
Prenatal Diagnosis
Skull
Ultrasonography
Ultrasonography, Prenatal*
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