Micro-CT and high-field MRI for studying very early post-mortem human fetal anatomy at 8 weeks of gestation.

Audrey Lamouroux, Maïda Cardoso, Célia Bottero, Mathieu Gallo, Martha Duraes, Jennifer Salerno, Martin Bertrand, Valérie Rigau, Florent Fuchs, Eve Mousty, David Genevieve, Gérard Subsol, Christophe Goze-Bac, Guillaume Captier

Journal: Prenatal diagnosis 2024;44(1):3-14

PMID: 38161284

Abstract

OBJECTIVE

This study involved very early post-mortem (PM) examination of human fetal anatomy at 8 weeks of gestation (WG) using whole-body multimodal micro-imaging: micro-CT and high-field MRI (HF-MRI). We discuss the potential place of this imaging in early first-trimester virtual autopsy.

METHODS

We performed micro-CT after different contrast-bath protocols including diffusible iodine-based contrast-enhanced (dice) and HF-MRI with a 9.4 T machine with qualitative and quantitative evaluation and obtained histological sections.

RESULTS

Nine fetuses were included: the crown-rump length was 10-24 mm and corresponded to 7 and 9 WG according to the Robinson formula. The Carnegie stages were 17-21. Dice micro-CT and HF-MRI presented high signal to noise ratio, >5, according to the Rose criterion, and for allowed anatomical phenotyping in these specimens. Imaging did not alter the histology, allowing immunostaining and pathological examination.

CONCLUSION

PM non-destructive whole-body multimodal micro-imaging: dice micro-CT and HF-MRI allows for PM human fetal anatomy study as early as 8 WG. It paves the way to virtual autopsy in the very early first trimester. Obtaining a precision phenotype, even regarding miscarriage products, allows a reverse phenotyping to select variants of interest in genome-wide analysis, offering potential genetic counseling for bereaved parents.

© 2024 John Wiley & Sons Ltd.

Address: Clinical Genetics Department, Montpellier University Hospital, University of Montpellier, Montpellier, France.; Obstetrical Gynaecology Department, Nîmes University Hospital, University of Montpellier, Nîmes, France.; Charles Coulomb Laboratory, UMR 5221 CNRS-UM, BNIF User Facility Imaging, University of Montpellier, CNRS, Montpellier, France.; ICAR Research Team, LIRMM, University of Montpellier, CNRS, Montpellier, France.; Univ. Montpellier, Montpellier, France.; Pathology Department, Montpellier University Hospital, University of Montpellier, Montpellier, France.; Anatomy Laboratory, Faculty of Medicine Montpellier-Nimes, University of Montpellier, Montpellier, France.; Obstetrical Gynaecology Department, Montpellier University Hospital, University of Montpellier, Montpellier, France.; Gynaecology and Gynaecology Surgery Department, Clinique Beau Soleil, Montpellier, France.; Experimental Anatomy Department, Faculty of Medicine Montpellier-Nimes, University Montpellier, Nîmes, France.; Digestive Surgery Department, Nimes University Hospital, Nîmes, France.; Inserm, CESP Center for Research in Epidemiology and Population Health, U1018, Reproduction and Child Development, Villejuif, France.; Desbrest Institute of Epidemiology and Public Health (IDESP), University of Montpellier, INSERM, Montpellier, France.; Center for Rare Disease Development Anomaly and Malformative Syndromes, Montpellier University Hospital, Montpellier, France.; Paediatric Surgery Department, Montpellier University Hospital, University of Montpellier, Montpellier, France.
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