title: Quantitative analysis of fetal facial morphology using 3D ultrasound and statistical shape modeling: a feasibility study.
abstract: 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.
  
  
  
  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+4weeks (25+0to 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.
  
  
  
  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).
  
  
  
  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.
authors.affiliation: Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital, Imperial College Healthcare National Health Service Trust, London, United Kingdom; Obstetrics and Gynaecology Unit, University of Parma, Parma, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Dall'Asta
authors.affiliation: University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, United Kingdom.
authors.forename: Silvia
authors.initials: S
authors.lastname: Schievano
authors.affiliation: University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, United Kingdom.
authors.forename: Jan L
authors.initials: JL
authors.lastname: Bruse
authors.affiliation: Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital, Imperial College Healthcare National Health Service Trust, London, United Kingdom.
authors.forename: Gowrishankar
authors.initials: G
authors.lastname: Paramasivam
authors.affiliation: Obstetrics and Gynaecology Unit, University of Parma, Parma, Italy.
authors.forename: Christine Tita
authors.initials: CT
authors.lastname: Kaihura
authors.affiliation: Craniofacial Unit, Great Ormond Street Hospital for Children National Health Service Foundation Trust and University College London Hospital, London, United Kingdom.
authors.forename: David
authors.initials: D
authors.lastname: Dunaway
authors.affiliation: Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital, Imperial College Healthcare National Health Service Trust, London, United Kingdom; Institute of Reproductive and Developmental Biology, Department of Surgery and Cancer, Imperial College London, London, United Kingdom; Department of Development and Regeneration, KU Leuven, Leuven, Belgium. Electronic address: christoph.lees@imperial.nhs.uk.
authors.forename: Christoph C
authors.initials: CC
authors.lastname: Lees
mesh_terms: D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000000981:diagnostic imaging; D005145:Face / Q000002:abnormalities / Q000000981:diagnostic imaging* / Q000196:embryology*; D005240:Feasibility Studies; D005260:Female; D005333:Fetus / Q000000981:diagnostic imaging*; D005865:Gestational Age; D006801:Humans; D021621:Imaging, Three-Dimensional / Q000379:methods; D015233:Models, Statistical; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D016216:Ultrasonography, Prenatal / Q000379:methods*
keywords: 3-dimensional ultrasound; facial dysmorphism; genetic syndrome; prenatal diagnosis; principal component analysis; statistical shape modeling