title: Pre-pregnancy cytogenetic analysis of general couples in eastern China.
abstract: The aim of this study was to investigate the contribution of chromosomal anomalies and the frequency of particular types of aberrations in general couples preparing for pregnancy and make recommendations for pregnancy on the basis of the medical literature. A total of 6,198 general couples were included in the present study. The karyotypes were generated from the peripheral blood lymphocyte cultures and the cytogenetic analysis was performed using G-banding. In 12,396 cases, chromosomal anomalies were detected in 59 cases (0.48%, 59/12,396). Among of them, the frequency of translocation was 0.35% (n = 43). Sex chromosomal anomalies accounted for 0.07% (n = 9), including Klinefelter syndrome (KS) (n = 4), Turner syndrome (TS) (n = 4), and XYY syndrome (n = 1). The others, including inversions (n = 6) and deletion (n = 1), accounted for 0.06%. Our study indicates that clinically important chromosomal defects are present at a remarkable frequency in the general couples in eastern China, suggesting pre-pregnancy cytogenetic analysis should be routinely performed among general couples in this area so that informed decision can be made, which will help to improve the quality of the pregnancy.
authors.affiliation: Department of Reproductive &Genetics, the Fourth Affiliated Hospital of Jiangsu University, 20 Zhengdong Road, Zhenjiang, Jiangsu 212001, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Zhenjiang Family Planning Guidance Institute, 1 Yangpengshan, West Zhongshan Road, Zhenjiang, Jiangsu 212001, China.
authors.forename: Hexi
authors.initials: H
authors.lastname: Wang
authors.affiliation: Zhenjiang Family Planning Guidance Institute, 1 Yangpengshan, West Zhongshan Road, Zhenjiang, Jiangsu 212001, China.
authors.forename: Min
authors.initials: M
authors.lastname: Gao
authors.affiliation: Zhenjiang Jingkou District Family Planning Guidance Station, 24 Mongxiyuan Street, Zhenjiang, Jiangsu 212001, China.
authors.forename: Shuangshan
authors.initials: S
authors.lastname: Xu
authors.affiliation: Department of Reproductive &Genetics, the Fourth Affiliated Hospital of Jiangsu University, 20 Zhengdong Road, Zhenjiang, Jiangsu 212001, China.
authors.forename: Xiaofen
authors.initials: X
authors.lastname: Xu
authors.affiliation: Department of Reproductive &Genetics, the Fourth Affiliated Hospital of Jiangsu University, 20 Zhengdong Road, Zhenjiang, Jiangsu 212001, China.
authors.forename: Xinyu
authors.initials: X
authors.lastname: Cao
authors.affiliation: Department of Reproductive &Genetics, the Fourth Affiliated Hospital of Jiangsu University, 20 Zhengdong Road, Zhenjiang, Jiangsu 212001, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Tao
mesh_terms: D000328:Adult; D002681:China; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D020732:Cytogenetic Analysis / Q000379:methods; D005260:Female; D006801:Humans; D007621:Karyotyping / Q000379:methods; D008297:Male; D011247:Pregnancy; D012189:Retrospective Studies; D014178:Translocation, Genetic / Q000235:genetics; D055815:Young Adult