The thymic–thoracic ratio in fetal heart defects: a simple way to identify fetuses at high risk for microdeletion 22q11

• Published in: Ultrasound in obstetrics & gynecology 2011-04, Vol.37 (4), p.397-403
• Main Authors: Chaoui, R., Heling, K.‐S., Sarut Lopez, A., Thiel, G., Karl, K.
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Cardiology. Vascular system; Cardiovascular system; Chromosomes, Human, Pair 22 - genetics; congenital heart defects; Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava; Cross-Sectional Studies; deletion 22q11; Echocardiography; Female; fetal echocardiography; Fetuses; Gene Deletion; Genetic Markers; Gestation; Gestational Age; Gynecology; Gynecology. Andrology. Obstetrics; Heart; Heart Defects, Congenital - diagnostic imaging; Heart Defects, Congenital - genetics; Humans; Investigative techniques, diagnostic techniques (general aspects); Karyotypes; Karyotyping; Medical sciences; Obstetrics; Pregnancy; prenatal diagnosis; Prospective Studies; Reference Values; Risk factors; Statistical analysis; Thymus; Thymus Gland - diagnostic imaging; Trachea; Ultrasonic investigative techniques; Ultrasonography, Prenatal - methods; Ultrasound
• ISSN: 0960-7692; 1469-0705; 1469-0705
• DOI: 10.1002/uog.8952

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 (CHD22) 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 CHD22 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.