5309对不良孕产史夫妇外周血淋巴细胞培养及G显带染色体核型分析

Analysis of peripheral blood lymphocyte culture and G-banding chromosome karyotype in 5309 couples with adverse pregnancy and parturition history

目的探究不良孕产史与染色体异常的关系。方法选取我院2016年1月—2019年3月5309对(10618例)不良孕产史夫妇,进行外周血淋巴细胞培养、G显带染色体核型分析。结果5309对不良孕产史夫妇中,染色体异常患者684例(6.44%),其中胚胎停育、习惯性流产398例,占58.19%(398/684);染色体异常儿孕产史158例,占23.10%(158/684);畸胎史50例,占7.31%(50/684);其他78例,占11.40%(78/684)。684例染色体异常中,数目、结构异常184例,其中数目异常47例,超雄或超雌12例,特纳或超雌嵌合体22例,Y染色体倒位13例;结构异常137例,72例染色体平衡易位,16例罗伯逊易位,17例倒位,11例染色体增加,10例染色体重复,5例染色体缺失,6例标记染色体;染色体多态性500例,1号、9号、16号、Y染色体次缢痕增加共330例,9号染色体倒位114例,染色体随体柄增加36例,染色体随体增加20例。结论夫妇染色体异常为引起不良孕产史的重要因素,同时应充分重视染色体多态性对不良孕产史的影响。

Objective To explore the relationship between adverse pregnancy-labor history and chromosome abnormality.Methods A total of 5309 couples(10618 cases)with adverse pregnancy and childbirth history admitted to our hospital from January 2016 to March 2019 were selected to carry out peripheral blood lymphocyte culture and karyotyping by G-banding chromosome.Results Among 5309 couples with adverse pregnancy and labor history,684 cases(6.44%)had chromosomal abnormalities.Out of 684 cases,398(58.19%,398/684)had embryo sterilization and habitual abortion,158 cases(23.10%,158/684)had chromosomal abnormalities of adverse pregnancy and labor history,50 cases(7.31%,50/684)had malformation fetuses history,and 78 cases(11.40%,78/684)had other causes.Among 684 cases of chromosomal abnormalities,184 out of them had abnormal chromosomes in number and structure,47 out of 184 cases had abnormal number chromosome,12 cases were supermale or superfemale,22 cases were Turner or superfemale chimerism,13 cases were found with Y chromosome inversion;and 137 out of the 184 cases had abnormal structure,72 out of 137 cases were found with balanced translocation of chromosome,16 cases had Robertson translocation,17 cases had inversion,11 cases had increased chromosome,10 cases had chromosome duplication,5 cases had chromosome deletion and 6 cases had marked chromosome.There were 500 cases of chromosome polymorphism,330 out of them were found had secondary constriction increase on chromosomes 1,9,16 and Y,114 cases had inversion on chromosome 9,36 cases had chromosome increase along with body stalk and 20 cases had chromosome increase along with body.Conclusion Chromosome abnormalities in couples are important factors for inducing the history of unhealthy pregnancy and childbirth,and at the same time we should attach sufficient importance to the influence of chromosome polymorphism on the history of unhealthy pregnancy and childbirth.