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Prenatal Diagnosis of Sporadic Apert Syndrome: A Sequential Diagnostic Approach Combining Three-Dimensional Computed Tomography and Molecular Biology

Prenatal Diagnosis of Sporadic Apert Syndrome: A Sequential Diagnostic Approach Combining... Apert syndrome is characterized by coronal craniosynostosis, midfacial hypoplasia, symmetrical syndactyly of the hands and feet described as ‘mitten-like’ with varying degrees of mental retardation. It results from a mutation of the fibroblast growth factor-2 (FGFR2) gene. In the absence of a family history, prenatal diagnosis may be difficult based on sonography alone. We report a case in which the prenatal diagnosis of Apert syndrome was suspected by ultrasonography, established by three-dimensional computed tomography scan (3DTS) and confirmed by the detection of a mutation on amniotic cells. This underscores the usefulness of a sequential diagnostic approach combining 3DTS and molecular biology in cases in which sonography alone is not con- clusive. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Fetal Diagnosis and Therapy Karger

Prenatal Diagnosis of Sporadic Apert Syndrome: A Sequential Diagnostic Approach Combining Three-Dimensional Computed Tomography and Molecular Biology

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Publisher
Karger
Copyright
© 2001 S. Karger AG, Basel
ISSN
1015-3837
eISSN
1421-9964
DOI
10.1159/000053872
Publisher site
See Article on Publisher Site

Abstract

Apert syndrome is characterized by coronal craniosynostosis, midfacial hypoplasia, symmetrical syndactyly of the hands and feet described as ‘mitten-like’ with varying degrees of mental retardation. It results from a mutation of the fibroblast growth factor-2 (FGFR2) gene. In the absence of a family history, prenatal diagnosis may be difficult based on sonography alone. We report a case in which the prenatal diagnosis of Apert syndrome was suspected by ultrasonography, established by three-dimensional computed tomography scan (3DTS) and confirmed by the detection of a mutation on amniotic cells. This underscores the usefulness of a sequential diagnostic approach combining 3DTS and molecular biology in cases in which sonography alone is not con- clusive.

Journal

Fetal Diagnosis and Therapy – Karger

Published: Feb 1, 2001

Keywords: Molecular biology; Apert syndrome; Apert syndrome, prenatal diagnosis; Tomography scan, three-dimensional

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