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目的分析不良孕产史夫妇的染色体多态性检测结果,为不良孕产史患者提供遗传咨询。方法 2012年6月至2016年6月,在广西壮族自治区妇幼保健院遗传咨询的2520对(5040例)不良孕产史夫妇,遗传咨询者取外周血行淋巴细胞培养,进行G显带染色体核型分析。结果 5040例不良孕产史夫妇中,共计检测出664例染色体异常,染色体异常检出率为13.17%(664/5040)。664例染色体异常患者中,习惯性流产或胚胎停育390例,占59.7%(390/664);染色体异常儿孕产史154例,占23.1%(154/664);畸胎史48例,占7.2%(48/664);其他72例,占10.8%(72/664)。664例染色体异常中,包括178例染色体数目或结构异常,486例染色体多态性,占总异常的73.2%(486/664)。其中1号、9号、16号和Y染色体次缢痕增加共计322例,9号染色体倒位110例,以及34染色体随体柄增加,20例染色体随体增加。结论染色体多态性是导致不良孕产史的重要的遗传学因素,应当引起重视。
Objective To analyze the results of chromosomal polymorphism of couples with adverse pregnancy history and to provide genetic counseling for patients with bad pregnancy history. METHODS: From June 2012 to June 2016, 2520 pairs (5040 cases) of poor pregnancy history couples and genetic counselors from Guangxi Zhuang Autonomous Region Maternal and Child Health Hospital were enrolled in this study. Peripheral blood lymphocytes were cultured for G-banding karyotype analysis. Results A total of 5040 cases of unhealthy couples were detected in 664 cases of chromosomal abnormalities, chromosomal abnormalities were detected in 13.17% (664/5040). In 664 patients with chromosomal abnormalities, 390 cases were habitual miscarriage or embryo suspension, accounting for 59.7% (390/664). There were 154 cases of chromosomal abnormalities (154.1%) (154/664) Accounting for 7.2% (48/664); other 72 cases, accounting for 10.8% (72/664). Among the 664 chromosomal abnormalities, there were 178 chromosomal abnormalities or structural abnormalities and 486 chromosomal abnormalities, accounting for 73.2% (486/664) of total abnormalities. Among them, No. 1, No. 9, No. 16 and Y chromosome secondary wounds increased by a total of 322 cases, 110 cases of chromosome 9 inversions, and 34 chromosomes increased with body stems, and 20 cases of chromosomes increased with the body. Conclusion Chromosomal polymorphism is an important genetic factor that leads to the history of poor pregnancy and should pay attention.