Systematic Ultrasound Evaluation of Olfactory Sulci in Fetuses with Congenital Heart Defects: A Clue for CHARGE Syndrome Diagnosis
Por:
Charach, R, Pérez-Cruz M, Masoller-Casas N, Illa-Armengol M, Monterde, E, Martínez-Crespo, JM, Borrell, A, Gómez-Chiari M, Rebollo M, Borregán M, Gómez, O and Eixarch, E
Publicada:
1 jun 2025
Ahead of Print:
1 ene 2025
Resumen:
Introduction: Arhinencephaly have been identified as a significant feature in CHARGE syndrome. This study aimed to evaluate the diagnostic role of olfactory sulci (OS) in identifying CHARGE syndrome among fetuses with major congenital heart defects (CHDs). Methods: We prospectively evaluated OS development in fetuses diagnosed with CHDs from 2017 to 2021. Neurosonography was performed using transabdominal and transvaginal approaches after 30 weeks of gestation. OS assessment was conducted in the trans-frontal coronal plane, classifying their appearance as fully developed, hypoplastic, or absent. Abnormal OS cases underwent MRI and trio-based clinical exome sequencing (CES). Results: The study included 147 fetuses with CHD. Abnormal OS were found in 4 fetuses (2.7%) which also exhibited other additional anomalies. OS were absent in cases 1-3 and hypoplastic in case 4. MRI confirmed OS abnormalities in all cases, and trio-based CES identified a CHD7 gene mutation in cases 1, 2, and 4, supporting the diagnosis of CHARGE syndrome. Case 3 had normal trio-based CES results. No other CHARGE syndrome cases were diagnosed postnatally among the cases with normal OS. Conclusions: Systematic evaluation of OS in fetuses with major CHD might contribute to the diagnosis of CHARGE syndrome. Our findings support the inclusion of OS assessment in the prenatal evaluation of fetuses with major CHDs. (c) 2025 The Author(s).Published by S. Karger AG, Basel
Filiaciones:
Charach, R:
Univ Barcelona, BCNatal Fetal Med Res Ctr, Hosp Clin, Barcelona, Spain
Univ Barcelona, Hosp St Joan de Deu, Barcelona, Spain
Tel Aviv Univ, Helen Schneider Womens Hosp, Rabin Med Ctr, Prenatal Ultrasound Unit, Petah Tiqwa, Israel
Pérez-Cruz M:
Univ Barcelona, BCNatal Fetal Med Res Ctr, Hosp Clin, Barcelona, Spain
Univ Barcelona, Hosp St Joan de Deu, Barcelona, Spain
Inst Recerca St Joan de Deu, Barcelona, Spain
Inst Salud Carlos III, Primary Care Intervent Prevent Maternal & Child Ch, Madrid, Spain
Masoller-Casas N:
Univ Barcelona, BCNatal Fetal Med Res Ctr, Hosp Clin, Barcelona, Spain
Univ Barcelona, Hosp St Joan de Deu, Barcelona, Spain
Illa-Armengol M:
Univ Barcelona, BCNatal Fetal Med Res Ctr, Hosp Clin, Barcelona, Spain
Univ Barcelona, Hosp St Joan de Deu, Barcelona, Spain
Inst Recerca St Joan de Deu, Barcelona, Spain
Inst Invest Biomed August Pi & Sunyer IDIBAPS, Barcelona, Spain
Monterde, E:
Univ Barcelona, BCNatal Fetal Med Res Ctr, Hosp Clin, Barcelona, Spain
Univ Barcelona, Hosp St Joan de Deu, Barcelona, Spain
Martínez-Crespo, JM:
Univ Barcelona, BCNatal Fetal Med Res Ctr, Hosp Clin, Barcelona, Spain
Univ Barcelona, Hosp St Joan de Deu, Barcelona, Spain
Inst Invest Biomed August Pi & Sunyer IDIBAPS, Barcelona, Spain
Ctr Biomed Res Rare Dis CIBER ER, Madrid, Spain
Borrell, A:
Univ Barcelona, BCNatal Fetal Med Res Ctr, Hosp Clin, Barcelona, Spain
Univ Barcelona, Hosp St Joan de Deu, Barcelona, Spain
Inst Recerca St Joan de Deu, Barcelona, Spain
Gómez-Chiari M:
Univ Barcelona, BCNatal Fetal Med Res Ctr, Hosp Clin, Barcelona, Spain
Univ Barcelona, Hosp St Joan de Deu, Barcelona, Spain
Inst Recerca St Joan de Deu, Barcelona, Spain
Hosp St Joan de Deu, Diagnost Imaging Dept, Barcelona, Spain
Rebollo M:
Inst Recerca St Joan de Deu, Barcelona, Spain
Hop Univ Geneve, Radiol Dept, Geneva, Switzerland
Borregán M:
Inst Recerca St Joan de Deu, Barcelona, Spain
Hosp St Joan de Deu, Dept Genet & Mol Med IPER, Barcelona, Spain
Gómez, O:
Univ Barcelona, BCNatal Fetal Med Res Ctr, Hosp Clin, Barcelona, Spain
Univ Barcelona, Hosp St Joan de Deu, Barcelona, Spain
Inst Invest Biomed August Pi & Sunyer IDIBAPS, Barcelona, Spain
Eixarch, E:
Univ Barcelona, BCNatal Fetal Med Res Ctr, Hosp Clin, Barcelona, Spain
Univ Barcelona, Hosp St Joan de Deu, Barcelona, Spain
Inst Invest Biomed August Pi & Sunyer IDIBAPS, Barcelona, Spain
Ctr Biomed Res Rare Dis CIBER ER, Madrid, Spain
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