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Role of fetal ultrasound in prenatally diagnosed de novo balanced translocations
J Genet Med 2018;15:8-12
Published online June 30, 2018;  https://doi.org/10.5734/JGM.2018.15.1.8
© 2018 Korean Society of Medical Genetics and Genomics.

Eui Sun Seong1, Hye Jin Youn1, Min Kyung Park1, Hye Yeon Boo1, Bom Yi Lee2, Hyun Mee Ryu1,2, and You Jung Han1,*

1Department of Obstetrics and Gynecology, Cheil General Hospital and Women’s Healthcare Center, Dankook University College of Medicine, Seoul, Korea
2Laboratory of Medical Genetics, Cheil General Hospital and Women’s Healthcare Center, Seoul, Korea
You Jung Han, M.D., Ph.D. http://orcid.org/0000-0003-4087-9198
Department of Obstetrics and Gynecology, Cheil General Hospital and Women’s Healthcare Center, Dankook University College of Medicine, 23 Toegyero 46-gil, Jung-gu, Seoul 04619, Korea.
Tel: +82-2-2000-7127, Fax: +82-2-2278-4574, E-mail: hanyj1978@hanmail.net
Received May 24, 2018; Revised June 12, 2018; Accepted June 12, 2018.
cc This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Purpose: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling.
Materials andMethods: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited.
Results: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies.
Conclusion: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.
Keywords : Genetic translocation, Prenatal ultrasonography, Prenatal diagnosis, Genetic counseling, Cytogenetic analysis.


June 2018, 15 (1)
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