Three-dimensional navigation inside a normal fetal heart in a virtual reality environment.

Three-dimensional navigation allows in a virtual reality environment across the fetal heart structures using glasses and joysticks. This technology allows virtual interactive discussions among multidisciplinary teams providing new perspectives on diagnosis and planning possible surgical corrections.

Prenatal diagnosis of closed gastroschisis: What to expect in the most severe form of gastroschisis? Case report and literature review.

Closed gastroschisis (CG) and vanishing gastroschisis (VG) are the most severe forms of evolution of the malformation. In this case, a fetus presented with gastroschisis at 13 weeks, and the gastroschisis was not visualized at 22 weeks of gestation. Distal ileum, cecum, and ascending colon atresia were diagnosed at surgery, and the child is fully enteral-fed at 5 months of age. In a literature review of 43 cases of prenatal diagnosis of CS-VG, intrauterine death occurred in 4.5% of cases. 79.6% of the cases underwent surgical treatment. Of these cases, 20% of cases died due to complications of treatment, 26% were still under treatment and 54% are alive with enteral feeding. In 77% of the cases, the closure of the umbilical ring occurred after 26 weeks of gestation and the absence of prenatal diagnosis of CG-VG during pregnancy has a risk of 71% of death.

Placenta accreta: Virtual reality from 3D images of magnetic resonance imaging.

Image from a fragment of the video of virtual reality model evaluating a case of placenta accreta spectrum and placental invasion. In this image, the placenta (purple) goes through the uterus and reaches the bladder muscle and mucosa (pink).

Craniopagus twin: pre- and post-natal 3-dimensional virtual and physical models and virtual navigation created with free or open source software-an option for low-resource centers.

BACKGROUND: Craniopagus twins represent a rare and complex congenital malformation characterized by conjoined twins fused at the cranium. Craniopagus is challenging for patients' families and surgeons, and accurate confirmation of the extent of cranial fusion is a complex process. Most information regarding the surgical anatomy of this rare condition is obtained through analysis of ultrasonographic, magnetic resonance, or computed tomographic images. A multidisciplinary team plays a key role in obtaining such information and in parental counseling and coordination of various complex processes for optimal postnatal care of these twins. The extent of fusion is usually determined based on conventional clinical methods, such as imaging studies. METHODS: Imaging software is being used in recent times to create three-dimensional reconstruction images and for virtual navigation to investigate the skulls and brains of craniopagus twins. However, the acquisition and maintenance costs of such sophisticated medical software may be unaffordable for medical centers in developing countries. To overcome this limitation, we investigated the role of open or free source software for accurate determination of complex malformations of the skull and brain of craniopagus twins.

Virtual navigation for the improvement of parents counseling and the planning of fetal endoscopic myelomeningocele repair.

BACKGROUND: Myelomeningocele (MMC) is the most severe form of spina bifida with intrauterine repairs becoming more prevalent. The development of three-dimensional ultrasound (3DUS) and magnetic resonance imaging (MRI) has drastically improved the visualization of fetal anatomy. METHODS: Virtual Navigation (VN) results from a technology that uses software generated realistic images to replicate the immersive feeling of a real environment. CONCLUSION: This report aims to demonstrate VN in a Chiari II malformation case, obtained from 3DUS and MRI files, comparing this with the fetal endoscopic surgery for MMC.

Congenital High Airway Obstruction Syndrome (CHAOS): Virtual Navigation in the Fetal Airways After Intrauterine Endoscopic Treatment.

BACKGROUND: Congenital high airway obstruction syndrome (CHAOS) involves the partial or complete obstruction of the fetal upper airways, usually caused by atresia or stenosis of the larynx or trachea. The obstruction of bronchial tree leads to lung distension, diaphragmatic eversion, and cardiac dysfunction, which can result in fetal death. CASE: A primigravid 19-year-old was diagnosed with CHAOS at 193 weeks gestation. Virtual navigation using magnetic resonance imaging (MRI) data was used to visualize the fetal airways after intrauterine endoscopic laser decompression. A perforation in the fetal larynx/trachea was identified and the diagnosis was modified to tracheal stenosis. Cesarean delivery occurred at 315 weeks using an ex utero intrapartum treatment (EXIT) procedure. The neonatology team were unable to perform intubation, suggesting a final diagnosis of tracheal atresia. The male newborn weighed 1920 g and died 1 hour later. CONCLUSION: 3D virtual bronchoscopy is a non-invasive approach to visualizing the fetal upper airways and can be used to diagnose and manage CHAOS.

Autosomal recessive hyper-IgE syndrome successfully treated with hematopoietic stem cell transplantation.

Autosomal recessive hyper-IgE syndrome is a primary immunodeficiency that results from a mutation in the DOCK8 gene. We report a case of a patient presenting with severe eczema, atopy, and recurrent skin infections since the first months of life. The diagnosis of autosomal recessive hyper-IgE syndrome was made at the age of 7 by a positive DOCK8 genetic test. The patient underwent hematopoietic stem cell transplantation, with complete remission of the various manifestations.

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

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.

3-D Virtual Reconstruction of a Large Amniocele With Protrusion of Legs and Umbilical Cord Following Asymptomatic Uterine Rupture.

BACKGROUND: Complete uterine rupture is a rare and severe intrapartum complication with high rates of maternal and fetal mortality. Asymptomatic uterine rupture is a very rare condition with one unique previous case described in the literature. Three-dimensional virtual models allow an immersive virtual reality of maternal-fetal structures with better understanding by the parents and the medical team. CASE: We demonstrate a case of asymptomatic rupture uterine with a large amniocele and protruded legs and umbilical cord at 28 weeks of gestation by using a 3-D virtual model from ultrasound scan data. CONCLUSION: 3-D virtual models may be applied to the assessment of obstetric complications, thereby allowing a novel 3-D spatial view of maternal-fetal structures.

3D Virtual Broncoscopy before FETO Procedure in a Fetus with Severe, Isolated Left Congenital Diaphragmatic Hernia.

INTRODUCTION: Congenital diaphragmatic hernia (CDH) is a life-threatening event in severe forms and fetuses affected may benefit from in utero treatment by fetoscopic endotracheal occlusion (FETO). MATERIALS AND METHODS: Application of 3D virtual bronchoscopy in a case of severe, isolated, left CDH before performing FETO procedure at 27 week's gestation is reported. RESULTS: The 3D virtual imaging of the fetal trachea was technically useful in planning the real FETO procedure. FETO successfully promoted fetal lung growth by decreasing the herniation of abdominal organs into the thorax and decreasing the risk of pulmonary hypoplasia. Ultrasound calculation of lung to head ratio (LHR) and fetal-MRI were used to assess lung development following FETO procedure. CONCLUSION: 3D virtual fetal reality enabled the fetal surgeon to review and navigate on demand inside the upper airway, reducing the risk of unexpected intervention complications.

Prenatal diagnosis and physical model reconstruction of agnathia-otocephaly with limb deformities (absent ulna, fibula and digits) following maternal exposure to oxymetazoline in the first trimester.

Agnathia-otocephaly or agnathia-sinotia-microstomy syndrome is the most severe malformation affecting the first branchial arch. It is a rare congenital anomaly characterized by absence of the lower jaw and abnormal ear positioning. Prenatal diagnosis is possible on conventional 2-D ultrasound in the second trimester. Three-dimensional ultrasound enhances detection of abnormal facial phenotype, especially in surface rendering mode. In addition, 3-D volume datasets are used to produce a physical model of the anomaly. We present a case of second trimester ultrasound diagnosis of agnathia-otocephaly associated with limb deformities. A physical model produced using 3-D ultrasound volume datasets facilitated better understanding of this congenital malformation, and improvement of parental counselling and management by the multispecialist team.

Physical model from 3D ultrasound and magnetic resonance imaging scan data reconstruction of lumbosacral myelomeningocele in a fetus with Chiari II malformation.

Rapid prototyping is becoming a fast-growing and valuable technique for physical models in case of congenital anomalies. Manufacturing models are generally built from three-dimensional (3D) ultrasound, computed tomography, and fetal magnetic resonance imaging (MRI) scan data. Physical prototype has demonstrated to be clinically of value in case of complex fetal malformations and may improve antenatal management especially in cases of craniosynostosis, orofacial clefts, and giant epignathus. In addition, it may enhance parental bonding in visually impaired parents and have didactic value in teaching program. Hereby, the first 3D physical model from 3D ultrasound and MRI scan data reconstruction of lumbosacral myelomeningocele in a third trimester fetus affected by Chiari II malformation is reported.

Fetal heart segmentation in a virtual reality environment.

This study presents the initial results of a pilot project using the Elucis Virtual Reality (VR) platform for fetal heart segmentation. Twelve fetal heart cases, ranging in gestational age from 24 to 30 weeks, including various cardiac conditions, were reconstructed using 3D models facilitated by the Elucis platform's integration of automated algorithms and manual adjustments. The models, which were evaluated by four experts in virtual and 3D printed formats, were of high quality and offered improved visuospatial visualization and detailed anatomical insights. This research highlights the potential of VR technology to improve prenatal diagnosis and planning for complex cardiac conditions, suggesting significant implications for continuing medical education and clinical practice in fetal cardiology.

Predictors of myositis in mixed connective tissue disease: A multicentre retrospective study.

OBJECTIVES: We aimed to identify clinical and serological predictors of myositis in mixed connective tissue disease (MCTD). METHODS: We performed a nationwide, retrospective, multicentre study including adult-onset MCTD patients fulfilling at least one of the following diagnostic criteria: Sharp's, Kasukawa, Alarcón-Segovia, or Kahn's. Univariate analysis was performed using Chi-square, Fisher exact, Student's t or Mann-Whitney U tests, as appropriate. Multivariate analysis was performed using binary logistic regression. RESULTS: Ninety-eight patients were included. Myositis was observed in 43.9% of patients, of whom 60.5% had myositis at disease onset. Proximal muscle weakness was described in 30 patients with muscle involvement (70%). Gastrointestinal involvement was identified in 28% and respiratory involvement in 29% of myositis patients. In the same subgroup of patients, 41.7% had a myopathic pattern on electromyography, and 47.1% had histological myositis features in the muscle biopsy. Fever (OR=6.96, p=0.022) was an independent predictor of myositis, regardless of sex, age at diagnosis, ancestry, and respiratory involvement. African ancestry (OR=8.39, p=0.019), leukopenia at the disease onset (OR 6.24, p=0.021), and younger age at diagnosis (OR=1.07/year, p=0.035) were identified as independent predictors of myositis at disease onset, regardless of sex and scleroderma pattern in capillaroscopy. CONCLUSIONS: Myositis is a common manifestation of MCTD, even at the disease onset. African ancestry, leukopenia at the disease onset, younger age at diagnosis, and fever should prompt a thorough evaluation for myositis.