The thymic–thoracic ratio in fetal heart defects: a simple way to identify fetuses at high risk for microdeletion 22q11
Open accessAbstract
Objectives: To establish reference ranges for the fetal thymic–thoracic ratio (TT‐ratio) and to compare results with those from fetuses with congenital heart defects (CHD) with and without microdeletion 22q11 (del.22q11), a condition known to be associated with a hypoplastic thymus. Methods: TT‐ratio was defined as the quotient of the anteroposterior thymic to the intrathoracic mediastinal diameters measured in the three vessels and trachea view. This ratio was measured in a prospective cross‐sectional study of 302 normal healthy fetuses between 15 and 39 weeks' gestation. The study group comprised two groups: one group (CHDn) consisted of 90 fetuses with CHD and a normal karyotype with no del.22q11 and the other group (CHD 22) included 20 fetuses with CHD and a normal karyotype but with proven del.22q11. Results: The TT‐ratio of the normal fetuses did not show any statistically significant change during gestation, with a mean value of 0.44. The values of all 90 fetuses of the CHDn group were within the normal range and no different from normal fetuses. However, 19 of the 20 (95%) fetuses in the CHD 22 group had a significantly smaller TT‐ratio (P < 0.001) compared with both the CHDn group and the normal fetuses, having a mean value of 0.25. Conclusions: The TT‐ratio is reliable and easy to obtain during fetal echocardiography. Fetuses with CHD and a low TT‐ratio can be considered at high risk of having microdeletion del.22q11. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.
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The three-vessel view and closely related three-vessels-and-trachea view may improve detection of outflow tract, aortic arch and systemic vein anomalies.
“The three-vessel view and closely related three-vessels-and-trachea view may improve detection of outflow tract, aortic arch and systemic vein anomalies (Figure 4d,e) 73-77 .”
From <scp>ISUOG</scp> Practice Guidelines (updated): performance of the routine mid‐trimester fetal ultrasound scan (2022) · cites this paper as [73]
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- Authors
- Chaoui, R., Heling, K. ‐., Sarut Lopez, A., Thiel, G., & Karl, K.
- Affiliations
- Zentrum für Pränataldiagnostik (DE)
- Ludwig-Maximilians-Universität München (DE)
- Corresponding author
- Chaoui, R.
- ORCID
- Venue
- Ultrasound in Obstetrics & Gynecology
- Publisher
- Wiley
- Published
- 2011-03-04
- Volume
- 37
- Issue
- 4
- Pages
- 397-403
- ISSN
- 0960-7692 (ISSN-L)
- 1469-0705
- OpenAlex
- W2028947642
- Cited by
- 109
- References
- 26
- Citations by year
- 2026: 5 · 2025: 12 · 2024: 5 · 2023: 15 · 2022: 8 · 2021: 7 · 2020: 10 · 2019: 4 · 2018: 6 · 2017: 6 · 2016: 6 · 2015: 11 · 2014: 4 · 2013: 5 · 2012: 3
- FWCI
- 4.11
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Ultrasound in Obstetrics and Gynecology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Health Sciences › Medicine › Epidemiology › Congenital Heart Disease Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- fetal cardiac anomalies, 22q11.2 microdeletion, 22q11.2 deletion syndrome, thymic hypoplasia, fetal echocardiography, prenatal diagnosis, reference values
- MeSH terms
- Chromosomes, Human, Pair 22, Cross-Sectional Studies, Echocardiography, Female, Genetic Markers, Gestational Age, Heart Defects, Congenital, Humans, Karyotyping, Pregnancy, Prospective Studies, Reference Values, Thymus Gland, Ultrasonography, Prenatal, Gene Deletion
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