Evaluation of Intrinsic Fetal Airway Obstruction (CHAOS): Correlations Between Ultrasound, Fetoscopic, and Pathological Findings.

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY Prenatal Diagnosis Pub Date : 2025-02-16 DOI:10.1002/pd.6761
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.

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来源期刊
Prenatal Diagnosis
Prenatal Diagnosis 医学-妇产科学
CiteScore
5.80
自引率
13.30%
发文量
204
审稿时长
2 months
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
期刊最新文献
Evaluation of Intrinsic Fetal Airway Obstruction (CHAOS): Correlations Between Ultrasound, Fetoscopic, and Pathological Findings. Cell-Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences. Enhancing Non-Invasive Prenatal Testing: A Novel Approach to Improve 45,X Prediction Accuracy. Use of Clinically Informed Strategies and Diagnostic Yields of Genetic Testing for Fetal Structural Anomalies Following a Non-Diagnostic Microarray Result: A Population-Based Cohort Study. BinDel: Detecting Clinically Relevant Fetal Genomic Microdeletions Using Low-Coverage Whole-Genome Sequencing-Based NIPT.
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