1 096例复发性自然流产夫妇外周血染色体异常率及异常核型分布特征分析

Analysis the Rate of Chromosome Abnormality and Distribution Characteristics of Abnormal Karyotype in Peripheral Blood of 1 096 Couples with Recurrent Spontaneous Abortion

目的:了解深圳市龙华区复发性自然流产(recurrent spontaneous abortion,RSA)夫妇外周血染色体异常率及异常核型分布特征,并探讨其与RSA之间的相关性。方法:选择2019年3月-2021年2月在深圳市龙华区妇幼保健院妇科就诊的RSA夫妇1 096例(548对),分别取其外周血进行淋巴细胞培养,同时运用G显带法(必要时增加C和N显带法)对其染色体核型进行分析,并对检测结果进行统计分析。结果:1 096例RSA夫妇检出染色体异常者121例,异常率为11.04%,男性染色体异常发生率为7.12%(39/548),明显低于女性的14.96%(82/548),差异有统计学意义(P<0.05);121例染色体异常患者中以多态性变异检出率最高,占62.81%,明显高于结构和数目异常率的31.40%和5.79%,差异有统计学意义(P<0.01)。其中多态性异常中以1、9、16号染色体次缢痕增长最为常见,占64.47%,明显高于其他多态性变异类型,差异有统计学意义(P<0.01);结构异常中以平衡易位最为常见,占65.79%,明显高于其他结构异常,差异有统计学意义(P<0.001);数目异常中以47,XXY检出率最高,占57.14%,高于其他数目异常(P<0.001);女性结构和多态性异常率分别为4.20%(23/548)和10.22%(56/548),高于男性的2.74%(15/548)和3.65%(20/548),而数目异常率为0.55%(3/548),低于男性的0.73%(4/548),但差异均无统计学意义(P>0.05)。结论:深圳龙华区RSA夫妇染色体异常率处于国内较高水平,可能是RSA发生的一个重要因素之一,其中多态性异常是RSA发生的主要因素。因此,加强RSA夫妇染色体分析,有利于RSA的预防和针对性治疗,对提高我国优生优育具有重要意义。

Objective:To investigate the rate of chromosomal abnormality and distribution characteristics of abnormal karyotype in peripheral blood of couples with recurrent spontaneous abortion (RSA) in Longhua District of Shenzhen,and to explore the correlation between it and RSA.Method:A total of 1 096 cases (548 couples) of RSA were selected from March 2019 to February 2021 in Gynecology of Shenzhen Longhua District Maternal and Child Health Hospital.The peripheral blood was collected for lymphocyte culture,and the chromosome karyotypes were analyzed by G-banding method (adding C and N banding method if necessary),and the results were statistically analyzed.Result:Among the 1 096 couples with RSA,121 cases were found with chromosomal abnormality,the abnormal rate was 11.04%,the incidence of abnormality in males was 7.12% (39/548),which was significantly lower than 14.96% (82/548) in females,and the difference was statistically significant (P<0.05).Among the 121 patients with chromosomal abnormalities,the detection rate of polymorphic variation was the highest (62.81%),which was significantly higher than 31.40% and 5.79% of the structural and number abnormalities,and the differences were statistically significant (P<0.01).Among the polymorphism abnormalities,chromosome 1,9 and 16 had the most common increase of secondary convection,accounting for 64.47%,which was significantly higher than other polymorphism types,and the difference was statistically significant (P<0.01).Among structural abnormalities,balanced translocation was the most common,accounting for 65.79%,which was significantly higher than other structural abnormalities,the difference was statistically significant (P<0.001).The detection rate of 47,XXY was the highest,accounting for 57.14%,which was higher than other abnormal numbers (P<0.001).The rate of structural and polymorphic abnormalities in females was 4.20% (23/548) and 10.22% (56/548),respectively,higher than 2.74% (15/548) and 3.65% (20/548) in males,while the rate of numerical abnormalities was 0.55% (3/548),lower than 0.73% (4/548) in males,there were no significant differences (P>0.05).Conclusion:The chromosome abnormality rate of RSA couples in Longhua district of Shenzhen is at a higher level in China,which may be one of the important factors for the occurrence of RSA,among which polymorphism is the main factor.Therefore,strengthening the chromosome analysis of couples with RSA is conducive to the prevention and targeted treatment of RSA,and it is of great significance to improve healthy birth and healthy education in China.