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Child's Nervous System

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01-08-2018 | Original Paper

Prenatal diagnosis of Apert syndrome using ultrasound, magnetic resonance imaging, and three-dimensional virtual/physical models: three case series and literature review

Authors: Heron Werner, Pedro Castro, Pedro Daltro, Jorge Lopes, Gerson Ribeiro, Edward Araujo Júnior

Published in: Child's Nervous System | Issue 8/2018

Abstract

Objective

This aimed to describe the prenatal diagnosis of three cases of Apert syndrome using two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), and 3D virtual/physical models.

Methods

We retrospectively analyzed three cases of Apert syndrome at our service. The prenatal diagnostic methods used were 2D ultrasound, 3D ultrasound in conventional and HDlive rendering modes, T2-weighted MRI sequences, and 3D virtual/physical models from MRI or 3D ultrasound scan data. All imaging methods were performed by one observer. All prenatal diagnoses were confirmed by autopsy in cases of termination of pregnancy or genetic assessment during the postnatal period.

Results

Mean ± standard deviation of maternal and gestational age at the time of diagnosis was 36.5 ± 3.5 years and 32 ± 4.2 weeks, respectively. Main 2D/3D ultrasound and MRI findings were craniosynostosis, hypertelorism, low ear implantation, increased kidneys dimensions, and syndactyly of hands and feet. 3D virtual/physical models allowed 3D view of fetal head and extremity abnormalities. Termination of pregnancy occurred in two cases.

Conclusion

Prenatal 3D ultrasound and MRI enabled the identification of all Apert syndrome phenotypes. 3D virtual/physical models provided both the parents and the medical team a better understanding of fetal abnormalities.

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Title: Prenatal diagnosis of Apert syndrome using ultrasound, magnetic resonance imaging, and three-dimensional virtual/physical models: three case series and literature review
Authors: Heron Werner
Pedro Castro
Pedro Daltro
Jorge Lopes
Gerson Ribeiro
Edward Araujo Júnior
Publication date: 01-08-2018
Publisher: Springer Berlin Heidelberg
Published in: Child's Nervous System / Issue 8/2018
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-018-3740-y

At a glance: The STEP trials

Springer Medicine

Prenatal diagnosis of Apert syndrome using ultrasound, magnetic resonance imaging, and three-dimensional virtual/physical models: three case series and literature review

Abstract

Objective

Methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Objective

Methods

Results

Conclusion

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