Claire Laporte, Jéléna Martinovic, Sophie Patrier, Briac Thierry, Imen Mediouni, Julien Saada, Marie Brasseur-Daudruy, Martin Etienne, Grégoire Dumery, Alexandra Benachi
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引用次数: 0
Abstract
Objective: To correlate ultrasound findings with fetoscopy and pathology data in patients with suspected congenital high airway obstruction syndrome (CHAOS) to improve prenatal diagnosis and management.
Method: This study included five consecutive patients suspected of having CHAOS. Prenatal ultrasound was performed to identify key features such as bilateral hyperechoic lungs, eversion of the diaphragm, and visible airways. Fetoscopy was conducted in three patients to assess the vocal cords and upper airways. Pathological analysis was also used to confirm the diagnosis.
Results: All five patients showed bilateral hyperechoic lungs, eversion of the diaphragm, and visible airways on ultrasound. An obstructive block was seen in all cases and the vocal cords were not visualized in three cases, abnormal in one case and not mentioned in one case. Fetoscopy confirmed vocal cord fusion or absence and complete laryngeal atresia in three patients. All pregnancies were terminated; therefore, medium-term complications of fetoscopy could not be assessed.
Conclusion: Accurate prenatal ultrasound imaging is essential for diagnosing CHAOS and determining prognosis. While ultrasound is the first-line test to assess the condition and guide management, fetoscopy should only be proposed when ultrasound findings are inconclusive. The diagnostic and therapeutic value of fetoscopy is limited to cases with nonvisible vocal cords and obstructive laryngeal block.
期刊介绍:
Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling