Automated craniofacial biometry with 3D T2w fetal MRI.

<h4>Objectives</h4>Evaluating craniofacial phenotype-genotype correlations prenatally is increasingly important; however, it is subjective and challenging with 3D ultrasound. We developed an automated label propagation pipeline using 3D motion- corrected, slice-to-volume reconstructed (S...

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Main Authors: Jacqueline Matthew, Alena Uus, Alexia Egloff Collado, Aysha Luis, Sophie Arulkumaran, Abi Fukami-Gartner, Vanessa Kyriakopoulou, Daniel Cromb, Robert Wright, Kathleen Colford, Maria Deprez, Jana Hutter, Jonathan O'Muircheartaigh, Christina Malamateniou, Reza Razavi, Lisa Story, Joseph V Hajnal, Mary A Rutherford
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2024-12-01
Series:PLOS Digital Health
Online Access:https://doi.org/10.1371/journal.pdig.0000663
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author Jacqueline Matthew
Alena Uus
Alexia Egloff Collado
Aysha Luis
Sophie Arulkumaran
Abi Fukami-Gartner
Vanessa Kyriakopoulou
Daniel Cromb
Robert Wright
Kathleen Colford
Maria Deprez
Jana Hutter
Jonathan O'Muircheartaigh
Christina Malamateniou
Reza Razavi
Lisa Story
Joseph V Hajnal
Mary A Rutherford
author_facet Jacqueline Matthew
Alena Uus
Alexia Egloff Collado
Aysha Luis
Sophie Arulkumaran
Abi Fukami-Gartner
Vanessa Kyriakopoulou
Daniel Cromb
Robert Wright
Kathleen Colford
Maria Deprez
Jana Hutter
Jonathan O'Muircheartaigh
Christina Malamateniou
Reza Razavi
Lisa Story
Joseph V Hajnal
Mary A Rutherford
author_sort Jacqueline Matthew
collection DOAJ
description <h4>Objectives</h4>Evaluating craniofacial phenotype-genotype correlations prenatally is increasingly important; however, it is subjective and challenging with 3D ultrasound. We developed an automated label propagation pipeline using 3D motion- corrected, slice-to-volume reconstructed (SVR) fetal MRI for craniofacial measurements.<h4>Methods</h4>A literature review and expert consensus identified 31 craniofacial biometrics for fetal MRI. An MRI atlas with defined anatomical landmarks served as a template for subject registration, auto-labelling, and biometric calculation. We assessed 108 healthy controls and 24 fetuses with Down syndrome (T21) in the third trimester (29-36 weeks gestational age, GA) to identify meaningful biometrics in T21. Reliability and reproducibility were evaluated in 10 random datasets by four observers.<h4>Results</h4>Automated labels were produced for all 132 subjects with a 0.3% placement error rate. Seven measurements, including anterior base of skull length and maxillary length, showed significant differences with large effect sizes between T21 and control groups (ANOVA, p<0.001). Manual measurements took 25-35 minutes per case, while automated extraction took approximately 5 minutes. Bland-Altman plots showed agreement within manual observer ranges except for mandibular width, which had higher variability. Extended GA growth charts (19-39 weeks), based on 280 control fetuses, were produced for future research.<h4>Conclusion</h4>This is the first automated atlas-based protocol using 3D SVR MRI for fetal craniofacial biometrics, accurately revealing morphological craniofacial differences in a T21 cohort. Future work should focus on improving measurement reliability, larger clinical cohorts, and technical advancements, to enhance prenatal care and phenotypic characterisation.
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spelling doaj-art-e3b1bd939a024bb1b3b26289867b372a2025-01-18T05:31:44ZengPublic Library of Science (PLoS)PLOS Digital Health2767-31702024-12-01312e000066310.1371/journal.pdig.0000663Automated craniofacial biometry with 3D T2w fetal MRI.Jacqueline MatthewAlena UusAlexia Egloff ColladoAysha LuisSophie ArulkumaranAbi Fukami-GartnerVanessa KyriakopoulouDaniel CrombRobert WrightKathleen ColfordMaria DeprezJana HutterJonathan O'MuircheartaighChristina MalamateniouReza RazaviLisa StoryJoseph V HajnalMary A Rutherford<h4>Objectives</h4>Evaluating craniofacial phenotype-genotype correlations prenatally is increasingly important; however, it is subjective and challenging with 3D ultrasound. We developed an automated label propagation pipeline using 3D motion- corrected, slice-to-volume reconstructed (SVR) fetal MRI for craniofacial measurements.<h4>Methods</h4>A literature review and expert consensus identified 31 craniofacial biometrics for fetal MRI. An MRI atlas with defined anatomical landmarks served as a template for subject registration, auto-labelling, and biometric calculation. We assessed 108 healthy controls and 24 fetuses with Down syndrome (T21) in the third trimester (29-36 weeks gestational age, GA) to identify meaningful biometrics in T21. Reliability and reproducibility were evaluated in 10 random datasets by four observers.<h4>Results</h4>Automated labels were produced for all 132 subjects with a 0.3% placement error rate. Seven measurements, including anterior base of skull length and maxillary length, showed significant differences with large effect sizes between T21 and control groups (ANOVA, p<0.001). Manual measurements took 25-35 minutes per case, while automated extraction took approximately 5 minutes. Bland-Altman plots showed agreement within manual observer ranges except for mandibular width, which had higher variability. Extended GA growth charts (19-39 weeks), based on 280 control fetuses, were produced for future research.<h4>Conclusion</h4>This is the first automated atlas-based protocol using 3D SVR MRI for fetal craniofacial biometrics, accurately revealing morphological craniofacial differences in a T21 cohort. Future work should focus on improving measurement reliability, larger clinical cohorts, and technical advancements, to enhance prenatal care and phenotypic characterisation.https://doi.org/10.1371/journal.pdig.0000663
spellingShingle Jacqueline Matthew
Alena Uus
Alexia Egloff Collado
Aysha Luis
Sophie Arulkumaran
Abi Fukami-Gartner
Vanessa Kyriakopoulou
Daniel Cromb
Robert Wright
Kathleen Colford
Maria Deprez
Jana Hutter
Jonathan O'Muircheartaigh
Christina Malamateniou
Reza Razavi
Lisa Story
Joseph V Hajnal
Mary A Rutherford
Automated craniofacial biometry with 3D T2w fetal MRI.
PLOS Digital Health
title Automated craniofacial biometry with 3D T2w fetal MRI.
title_full Automated craniofacial biometry with 3D T2w fetal MRI.
title_fullStr Automated craniofacial biometry with 3D T2w fetal MRI.
title_full_unstemmed Automated craniofacial biometry with 3D T2w fetal MRI.
title_short Automated craniofacial biometry with 3D T2w fetal MRI.
title_sort automated craniofacial biometry with 3d t2w fetal mri
url https://doi.org/10.1371/journal.pdig.0000663
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