MRI in the prenatal genetic diagnosis and intrauterine treatment of fetal congenital cystic adenoma of the lung.
CCAM
Diagnosis
Genetics
MRI examination
Treatment
Journal
Journal of cardiothoracic surgery
ISSN: 1749-8090
Titre abrégé: J Cardiothorac Surg
Pays: England
ID NLM: 101265113
Informations de publication
Date de publication:
28 Aug 2024
28 Aug 2024
Historique:
received:
23
03
2024
accepted:
14
06
2024
medline:
31
8
2024
pubmed:
31
8
2024
entrez:
28
8
2024
Statut:
epublish
Résumé
To investigate the value of magnetic resonance examination technique for prenatal genetic diagnosis and clinical intrauterine treatment of fetal congenital cystic adenoma (CCAM) of the lung. A retrospective analysis was conducted on 108 pregnant women admitted to a certain hospital from January 2016 to January 2022 for pre natal examination and consultation on eugenics. The selected pregnant women were aged 20-40 and had a gestational age of 17-36 weeks. Ultrasound and MRI examinations were performed on 108 pregnant women who met the inclusion criteria. Follow-up and investigation were conducted on the fetus after being diagnosed with CCAM. To analyze the results of prenatal genetic diagnosis, chromosome microarray analysis (CMA) was used to analyze samples with pathogenic Copy Number Variants (CNV) and identify pathogenic genes. Finally, the imaging diagnosis results obtained through statistical software were analyzed, and the correlation between pathogenic genes and CCAM, as well as the clinical application value of MRI in fetal intrauterine treatment was explored. Among all cases, 68 fetuses were diagnosed with CCAM through ultrasound examination; 71 fetuses were diagnosed with CCAM through MRI examination. A total of 74 samples were confirmed as CCAM by autopsy and neonatal CT. The sensitivity, specificity, and accuracy of MRI in diagnosing fetal congenital CCAM were higher than those of ultrasound examination. The expression of CCAM was positively correlated with DUSP22, PRSS1, and SHOX, with all R values greater than 0.8. The clinical decision curve showed that when the probability of fetal CCAM was less than 0.03, the prenatal genetic diagnostic model of MRI was not applicable; But when the probability of fetal CCAM was higher than 0.05, the auxiliary intrauterine treatment effect that MRI diagnostic methods achieved was significantly better than conventional diagnosis. MRI is significantly better than ultrasound in the diagnosis of CCAM, which can effectively improve the sensitivity of diagnosis and provide accurate information for the eugenics of pregnant women, and has high clinical application value.
Identifiants
pubmed: 39198908
doi: 10.1186/s13019-024-02868-8
pii: 10.1186/s13019-024-02868-8
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
502Informations de copyright
© 2024. The Author(s).
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