Heron Werner1, Pedro Castro1, Pedro Daltro1, Jorge Lopes2, Gerson Ribeiro2, Edward Araujo Júnior3. 1. Department of Radiology, Clínica de Diagnóstico por Imagem (CDPI), Rio de Janeiro, RJ, Brazil. 2. Department of Arts and Design, Pontifícia Universidade Católica (PUC Rio), Rio de Janeiro, RJ, Brazil. 3. Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo (EPM-UNIFESP), Rua Belchior de Azevedo, 156 apto. 111 Torre Vitoria, São Paulo, SP, CEP 05089-030, Brazil. araujojred@terra.com.br.
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.
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.
Authors: Erik Nout; Natalja Bannink; Maarten J Koudstaal; Jifke F Veenland; Koen F M Joosten; Rene M L Poublon; Karel G H van der Wal; Irene M J Mathijssen; Eppo B Wolvius Journal: J Craniomaxillofac Surg Date: 2011-05-31 Impact factor: 2.078
Authors: A P Athanasiadis; M Zafrakas; P Polychronou; L Florentin-Arar; P Papasozomenou; G Norbury; J N Bontis Journal: Fetal Diagn Ther Date: 2008-12-11 Impact factor: 2.587
Authors: W J Park; C Theda; N E Maestri; G A Meyers; J S Fryburg; C Dufresne; M M Cohen; E W Jabs Journal: Am J Hum Genet Date: 1995-08 Impact factor: 11.025