Kan X, Xie YX, Yao L, Wang LY, Xia YX, Sun JQ, Bian ML, Yu L, Lu YL. Prenatal diagnosis of balanced translocation from three families: Six case reports. World J Clin Cases 2025; 13(20): 100714 [DOI: 10.12998/wjcc.v13.i20.100714]
Corresponding Author of This Article
Ying-Li Lu, PhD, Reproductive Medicine Center, The Second Hospital of Jilin University, No. 4026 Yatai Street, Yongji Street, Nanguan District, Changchun 130041, Jilin Province, China. luyl@jlu.edu.cn
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Jul 16, 2025; 13(20): 100714 Published online Jul 16, 2025. doi: 10.12998/wjcc.v13.i20.100714
Prenatal diagnosis of balanced translocation from three families: Six case reports
Xun Kan, Yu-Xin Xie, Lan Yao, Lu-Yao Wang, Yu-Xin Xia, Jian-Qiao Sun, Ming-Lei Bian, Liang Yu, Ying-Li Lu
Xun Kan, Obstetrics and Gynecology Research Laboratory, The Second Hospital of Jilin University, Changchun 130041, Jilin Province, China
Yu-Xin Xie, Reproductive Medicine Center, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei 230031, Anhui Province, China
Lan Yao, Lu-Yao Wang, Yu-Xin Xia, Ying-Li Lu, Reproductive Medicine Center, The Second Hospital of Jilin University, Changchun 130041, Jilin Province, China
Jian-Qiao Sun, Ming-Lei Bian, Liang Yu, Department of Reproductive Clinical Science, Macon and Joan Brock Virginia Health Sciences, Old Dominion University, Virginia, VA 23507, United States
Author contributions: Kan X wrote the manuscript; Kan X, Xie YX, Bian ML, Yu L, and Lu YL contributed to discussion and revision of the manuscript; Yao L, Wang LY, Xia YX, and Sun JQ performed the data collection; Lu YL provided relevant information on these cases and contributed to the conception, planning, and revision of the article; all the authors have read and approved the final manuscript.
Supported by The Science and Technology Department of Jilin Province, China, No. YDZJ202301ZYTS002; and The Jilin Province Medical and Health Talents Project, No. 2019SRCJ010.
Informed consent statement: We obtained verbal informed consent from the patients and removed all patient-identifying information from this article.
Conflict-of-interest statement: All authors declare no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Ying-Li Lu, PhD, Reproductive Medicine Center, The Second Hospital of Jilin University, No. 4026 Yatai Street, Yongji Street, Nanguan District, Changchun 130041, Jilin Province, China. luyl@jlu.edu.cn
Received: August 26, 2024 Revised: February 18, 2025 Accepted: March 20, 2025 Published online: July 16, 2025 Processing time: 225 Days and 19.7 Hours
Abstract
BACKGROUND
Carriers of chromosomal balanced translocations are often physically healthy with no obvious developmental problems. However, potential chromosomal imbalance in their gametes can lead to implantation failure, miscarriage, or the birth of a child with a chromosomal abnormality.
CASE SUMMARY
We report six cases of chromosomal translocations involving three families, including the specific Robertson (Roche) translocation. Case 1: The karyotype of the proband was 46, XX, t(18;19)(q22;p12). Case 2: Interventional prenatal diagnosis at 18 weeks of gestation confirmed that the karyotype of the fetus was 46, XY, t(18;19)(q22;p12). Case 3: The karyotype of the proband was 46, XY, t(5;18)(p13;p11). Case 4: Interventional prenatal diagnosis at 14+6 weeks confirmed that the karyotype of the fetus was 46, XX, der(18)t(5;18)(p13;p11)pat. Case 5: The karyotype of the proband was 45, XY, der(14;22)(q10;q10). Case 6: Interventional prenatal diagnosis at 19+4 weeks confirmed that the karyotype of the fetus was 45, XX, rob(14;22)(q10;q10).
CONCLUSION
Carriers of chromosomal translocations have a high risk of adverse pregnancy outcomes, though they can still have normal offspring. This report on six cases of chromosomal translocations from three families could serve as a reference for future prenatal diagnosis of chromosomal translocations and decision-making on whether to continue the pregnancy.
Core Tip: This paper reports six cases of chromosomal translocations involving three families, including a specific Robertson (Roche) translocation. None of the probands in the three families had an obvious abnormal phenotype. However, they all had varying degrees of chromosomal translocations, including balanced translocations in families 1 and 2 and a Roche translocation in family 3. Additionally, their fetuses did not have any apparent abnormalities postnatally. This case report of six chromosomal translocations in three families will serve as a reference for future prenatal diagnosis of chromosomal translocations and decision-making on whether to continue the pregnancy.
