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目的通过对6年来接诊的男性和女性染色体易位携带者核型和妊娠结局的分析,探讨不同染色体间易位与临床效应的关系,为优生和辅助生殖提供理论指导。方法不孕不育患者常规采用外周血淋巴细胞培养,染色体G显带400带及染色体核型分析。染色体异常携带者妊娠后行羊水穿刺对胎儿染色体核型分析。结果 72例染色体易位患者中,17例妊娠后检测胎儿染色体易位位点与夫妻一方一致,继续妊娠。17例患者中70.59%有多次不良孕产史。另40例染色体易位患者有1~5次不良妊娠史,导致不育结局;还有15例染色体易位表现不同程度的生殖器形态或功能障碍患者,为原发不孕不育患者。结论染色体易位携带者是男女不孕不育的重要因素之一,对其自然受孕或辅助生殖者应行产前诊断,以避免染色体异常患儿出生。
Objective To investigate the relationship between the translocations and clinical effects of different chromosomes by analyzing the karyotypes and pregnancy outcomes of chromosome translocations in men and women who have been admitted for 6 years, so as to provide theoretical guidance for eugenics and assisted reproduction. Methods Infertility patients were routinely cultured with peripheral blood lymphocytes, with G banding of chromosome 400 and karyotype analysis. Chromosome karyotype analysis of fetus after amniocentesis in pregnant women with chromosomal abnormalities. Results Of 72 patients with chromosomal translocations, 17 fetuses with chromosomal translocations detected after pregnancy were consistent with those of their spouses. Pregnancy was continued. 70.59% of 17 patients had multiple adverse pregnancy history. Another 40 cases of chromosomal translocations in patients with 1-5 history of adverse pregnancy, leading to infertility outcomes; there are 15 cases of chromosomal translocations showed varying degrees of genital shape or dysfunction in patients with primary infertility. Conclusion Chromosomal translocation carriers are one of the important factors of infertility for both men and women. Prenatal diagnosis should be performed on their natural conception or assisted reproduction to avoid the birth of children with chromosomal abnormalities.