Clinically relevant chromosomal abnormalities and chromosomal polymorphisms in 7,530 patients undergoing reproductive genetic counseling: a retrospective cytogenetic study in a Chinese Han population
- 1Fujian Key Laboratory of Laboratory Medicine, Department of Laboratory Medicine, Gene Diagnosis Research Center, Fujian Clinical Research Center for Clinical Immunology Laboratory Test, The First Affiliated Hospital of Fujian Medical University , , ,
Abstract
Background: Chromosomal aberrations are important causes of reproductive disorders, but their clinical interpretation is often complicated by the presence of benign chromosomal polymorphisms that may obscure the true diagnostic yield of karyotyping. The aim of this study was to evaluate peripheral blood karyotyping in patients undergoing reproductive genetic counseling and to distinguish clinically relevant chromosomal abnormalities from chromosomal polymorphisms.
Methods: A total of 7,530 patients who visited the reproductive center and the obstetrics and gynecology genetic clinic of the First Affiliated Hospital of Fujian Medical University from January 2016 to December 2022 were included. Peripheral blood karyotyping was performed using lymphocyte culture, routine chromosome preparation, and G-banding. Cytogenetic findings were classified into clinically relevant chromosomal abnormalities and chromosomal polymorphisms. Chromosomal polymorphisms were analyzed separately and were not counted as the primary diagnostic outcome. Correspondence analysis was performed using an observed-count matrix linking major clinical manifestations with representative karyotypic findings.
Results: A total of 552 abnormal cytogenetic findings were detected, corresponding to an overall cytogenetic finding rate of 7.33% (552/7,530). Among them, 246 cases were classified as clinically relevant chromosomal abnormalities, giving a primary diagnostic rate of 3.27% (246/7,530), whereas 306 cases were chromosomal polymorphisms, accounting for 4.06% of the total cohort and 55.43% of all abnormal cytogenetic findings. In correspondence analysis, the first two dimensions explained 77.9% and 15.2% of the total inertia, respectively. The global chi-square test indicated a non-random association between clinical manifestations and representative karyotypic findings (chi-square = 69.92, df = 16, P < 0.001).
Conclusion: Peripheral blood karyotyping remains a useful first-line cytogenetic test in reproductive genetic counseling. Clinically relevant chromosomal abnormalities and chromosomal polymorphisms should be reported and interpreted separately. Phenotype-guided interpretation may improve the clinical value of karyotyping and help identify patients who require additional molecular confirmation or multidisciplinary counseling.
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BibTeX
@article{wu2026clinically,
title = {{Clinically relevant chromosomal abnormalities and chromosomal polymorphisms in 7,530 patients undergoing reproductive genetic counseling: a retrospective cytogenetic study in a Chinese Han population}},
author = {Songhang Wu and Hongyan Shang and Wenhua Wang and Dan Chen and Wennan Wu},
journal = {Frontiers in genetics},
year = {2026},
month = oct,
doi = {10.3389/fgene.2026.1947419},
url = {https://europepmc.org/article/PMC/PMC13720713},
note = {CC BY},
}
RIS
TY - JOUR
TI - Clinically relevant chromosomal abnormalities and chromosomal polymorphisms in 7,530 patients undergoing reproductive genetic counseling: a retrospective cytogenetic study in a Chinese Han population
AU - Songhang Wu
AU - Hongyan Shang
AU - Wenhua Wang
AU - Dan Chen
AU - Wennan Wu
PY - 2026
DA - 2026/10/16
JO - Frontiers in genetics
DO - 10.3389/fgene.2026.1947419
UR - https://europepmc.org/article/PMC/PMC13720713
AB - Background: Chromosomal aberrations are important causes of reproductive disorders, but their clinical interpretation is often complicated by the presence of benign chromosomal polymorphisms that may obscure the true diagnostic yield of karyotyping. The aim of this study was to evaluate peripheral blood karyotyping in patients undergoing reproductive genetic counseling and to distinguish clinically relevant chromosomal abnormalities from chromosomal polymorphisms. Methods: A total of 7,530 patients who visited the reproductive center and the obstetrics and gynecology genetic clinic of the First Affiliated Hospital of Fujian Medical University from January 2016 to December 2022 were included. Peripheral blood karyotyping was performed using lymphocyte culture, routine chromosome preparation, and G-banding. Cytogenetic findings were classified into clinically relevant chromosomal abnormalities and chromosomal polymorphisms. Chromosomal polymorphisms were analyzed separately and were not counted as the primary diagnostic outcome. Correspondence analysis was performed using an observed-count matrix linking major clinical manifestations with representative karyotypic findings. Results: A total of 552 abnormal cytogenetic findings were detected, corresponding to an overall cytogenetic finding rate of 7.33% (552/7,530). Among them, 246 cases were classified as clinically relevant chromosomal abnormalities, giving a primary diagnostic rate of 3.27% (246/7,530), whereas 306 cases were chromosomal polymorphisms, accounting for 4.06% of the total cohort and 55.43% of all abnormal cytogenetic findings. In correspondence analysis, the first two dimensions explained 77.9% and 15.2% of the total inertia, respectively. The global chi-square test indicated a non-random association between clinical manifestations and representative karyotypic findings (chi-square = 69.92, df = 16, P < 0.001). Conclusion: Peripheral blood karyotyping remains a useful first-line cytogenetic test in reproductive genetic counseling. Clinically relevant chromosomal abnormalities and chromosomal polymorphisms should be reported and interpreted separately. Phenotype-guided interpretation may improve the clinical value of karyotyping and help identify patients who require additional molecular confirmation or multidisciplinary counseling.
SN - 1664-8021
ER -