Visual diagnosis in utero: Prenatal diagnosis of Treacher-Collins syndrome using a 3D/4D ultrasonography

We present a case with prenatal diagnosis of Treacher-Collins syndrome in which micrognathia and other facial and ear abnormalities were described using a three- and four-dimensional (3D/4D) ultrasonography in utero. A 39-year-old Japanese pregnant woman was referred because of polyhydramnios at 29...

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Bibliographic Details
Published in:	Taiwanese journal of obstetrics & gynecology Vol. 58; no. 4; pp. 566 - 569
Main Authors:	Kubo, Sayo, Horinouchi, Takashi, Kinoshita, Masahiro, Yoshizato, Toshiyuki, Kozuma, Yutaka, Shinagawa, Takaaki, Ushijima, Kimio
Format:	Journal Article
Language:	English
Published:	China (Republic : 1949- ) Elsevier B.V 01-07-2019 Elsevier
Subjects:	Abnormalities, Multiple - diagnostic imaging Adult Female Gestational Age Humans Imaging, Three-Dimensional Magnetic Resonance Imaging - methods Mandibulofacial Dysostosis - diagnostic imaging Micrognathism - diagnostic imaging Polyhydramnios - diagnostic imaging Pregnancy Pregnancy Outcome Prenatal diagnosis Prenatal Diagnosis - methods Rare Diseases Syndrome Three-dimensional/four-dimensional ultrasonography Treacher-Collins syndrome Ultrasonography, Doppler - methods Ultrasonography, Prenatal Three-dimensional/four-dimensional ultrasonography Prenatal diagnosis Treacher-Collins syndrome
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Summary:	We present a case with prenatal diagnosis of Treacher-Collins syndrome in which micrognathia and other facial and ear abnormalities were described using a three- and four-dimensional (3D/4D) ultrasonography in utero. A 39-year-old Japanese pregnant woman was referred because of polyhydramnios at 29 weeks' gestation. Conventional ultrasonography showed a hypoplastic mandible on the sagittal section of fetal head. Continuous observation using a 3D ultrasonography additionally demonstrated bilateral downslanting palpebral fissures with symmetry and macrostomia as well as micrognathia. Both ears were microtia and no polydactyly or missing fingers were found. The advantage of the rendering mode of 3D images covering entire face including ears and limbs was enhanced by a continuous observation, so called 4D ultrasonography, under a condition of polyhydramnios, providing visual diagnosis in utero.
ISSN:	1028-4559 1875-6263
DOI:	10.1016/j.tjog.2019.05.024