Quantitative analysis of fetal facial morphology using 3D ultrasound and statistical shape modeling: a feasibility study.
File(s)3D face paper AJOG REVIEW 25 01 17 clean.docx (53.74 KB)
Accepted version
Author(s)
Type
Journal Article
Abstract
BACKGROUND: The antenatal detection of facial dysmorphism using 3-dimensional ultrasound may raise the suspicion of an underlying genetic condition but infrequently leads to a definitive antenatal diagnosis. Despite advances in array and noninvasive prenatal testing, not all genetic conditions can be ascertained from such testing. OBJECTIVES: The aim of this study was to investigate the feasibility of quantitative assessment of fetal face features using prenatal 3-dimensional ultrasound volumes and statistical shape modeling. STUDY DESIGN: Thirteen normal and 7 abnormal stored 3-dimensional ultrasound fetal face volumes were analyzed, at a median gestation of 29(+4) weeks (25(+0) to 36(+1)). The 20 3-dimensional surface meshes generated were aligned and served as input for a statistical shape model, which computed the mean 3-dimensional face shape and 3-dimensional shape variations using principal component analysis. RESULTS: Ten shape modes explained more than 90% of the total shape variability in the population. While the first mode accounted for overall size differences, the second highlighted shape feature changes from an overall proportionate toward a more asymmetric face shape with a wide prominent forehead and an undersized, posteriorly positioned chin. Analysis of the Mahalanobis distance in principal component analysis shape space suggested differences between normal and abnormal fetuses (median and interquartile range distance values, 7.31 ± 5.54 for the normal group vs 13.27 ± 9.82 for the abnormal group) (P = .056). CONCLUSION: This feasibility study demonstrates that objective characterization and quantification of fetal facial morphology is possible from 3-dimensional ultrasound. This technique has the potential to assist in utero diagnosis, particularly of rare conditions in which facial dysmorphology is a feature.
Date Issued
2017-02-14
Date Acceptance
2017-02-06
Citation
American Journal of Obstetrics and Gynecology, 2017, 217 (1), pp.76.e1-76.e8
ISSN
1097-6868
Publisher
Elsevier
Start Page
76.e1
End Page
76.e8
Journal / Book Title
American Journal of Obstetrics and Gynecology
Volume
217
Issue
1
Copyright Statement
© 2017 Elsevier Inc. All rights reserved. This manuscript is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/
Identifier
PII: S0002-9378(17)30247-8
Subjects
Science & Technology
Life Sciences & Biomedicine
Obstetrics & Gynecology
3-dimensional ultrasound
facial dysmorphism
genetic syndrome
prenatal diagnosis
principal component analysis
statistical shape modeling
COMPARATIVE GENOMIC HYBRIDIZATION
PRINCIPAL COMPONENT ANALYSIS
AORTIC-ARCH SHAPE
PRENATAL-DIAGNOSIS
APERT-SYNDROME
ULTRASONOGRAPHY
PROFILE
COARCTATION
POPULATION
FEATURES
Craniofacial Abnormalities
Face
Feasibility Studies
Female
Fetus
Gestational Age
Humans
Imaging, Three-Dimensional
Models, Statistical
Pregnancy
Prenatal Diagnosis
Ultrasonography, Prenatal
1114 Paediatrics And Reproductive Medicine
Obstetrics & Reproductive Medicine
Publication Status
Published