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Peripheral blood karyotyping analysis of 10339 infertile patients from southwest China

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Author:
No author available
Journal Title:
Chinese Journal of Prenatal Diagnosis(Electronic Version)
Issue:
2
DOI:
10.13470/j.cnki.cjpd.2024.02.002
Key Word:
不孕不育;染色体异常;辅助生殖;Infertility;Assisted reproduction;Chromosome abnormality

Abstract: Objective About 8%~12%of the population of childbearing age are suffering from infertility.And the correlation of chromosome polymorphism and infertility is still somewhat controversial.To analyze the rate of abnormal karyotypes among the population suffered from infertility and provide strong evidence for performing the reliable clinical treatment.Methods The peripheral blood chromosome karyotype of 10339 patients,who visited the Department of Reproductive Genetics,the First Affiliated Hospital of Kunming Medical University from January 2021 to December 2023 for suffering from infertility,their peripheral blood chromosome karyotypes were analyzed here.Results Among 10339 samples,224 cases had the abnormal chromosomal karyotypes,with an abnormal rate of 2.17%.Among 4881 male patients,117 patients had the abnormal karyotypes(2.40%);among 5458 female patients,107 patients had the abnormal chromosomal karyotypes,with an abnormal rate of 1.96%.Among which,73 patients(32.59%,73/224)were suffered from chromosome balanced translocation,chromosome karyotype of 29 patients(12.95%,29/224)were identified to be Roche translocation,51 of them were male patients with the Klinefelter's(22.77%,51/224),6 patients were diagnosed to be Down syndrome(2.68%,6/224),24 women have the chromosome karyotype of Turner syndrome(10.71%,24/224),13 patient was suffered from sex reversal(5.80%,13/224),in addition,and the chromosome karyotypes of 655 patients showed the structural polymorphisms(6.34%,655/10339).The rate of abnormal autosomal chromosome karyotypes was higher than that of sex chromosomes.Male patients have the higher rate of abnormal chromosome karyotypes than female patients.Conclusion Chromosome abnormality was an important genetic factor causing infertility.The incidence of chromosomal polymorphism in infertile patients is higher than that of chromosomal abnormalities,and balanced translocation accounts for the highest proportion of chromosomal abnormalities,which may be an important genetic factor leading to infertility.Karyotype analysis of infertile patients can improve the diagnosis of patients,help to select the best treatment plan,and provide suitable fertility strategies to avoid recurrent miscarriages rate and the rate of birth defects,and improve the quality of the newborn in China.

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