高龄孕妇羊水染色体异常核型特征分析

Analysis of abnormal karyotype of amniotic fluid in elderly pregnant women

目的收集高龄孕妇产前诊断染色体异常核型探讨其核型特征。方法收集2016年1月至2020年8月在广州医科大学附属第六医院诊治的598例高龄患者,参照其年龄分为A组(预产期年龄35~<40岁,388例)与B组(预产期年龄≥40岁,210例)。孕17~24周行羊水染色体核型分析。结果共诊断染色体核型异常107例,A组388例中染色体异常47例,染色体异常比率12.11%(47/388);B组210例中染色体异常60例,异常比率28.57%(60/210)。B组染色体异常率高于A组,差异有统计学意义(P<0.05)。A组47例异常染色体中,非整倍体为23例,占比48.94%,21-三体综合征17例,占比36.17%,18-三体综合征4例,占比为8.51%,13-三体综合征2例,占比为4.26%,性染色体异常6例,占比为6.38%,多态性13例,占比27.66%。B组60例异常染色体中,非整倍体为31例,占比51.66%,21-三体综合征24例,占比40.00%,18-三体综合征5例,占比为8.33%,13-三体综合征2例,占比为3.33%,性染色体异常7例,占比5%,多态性16例,占比26.67%。结论胎儿染色体异常比率随着孕妇年龄升高而上升,高龄孕妇羊水染色体核型分析可检测出胎儿染色体异常,避免异常染色体患儿出生。

Objective To collect the karyotypes of abnormal chromosomes in prenatal diagnosis of elderly pregnant women and explore their karyotype characteristics.Methods A total of 598 elderly patients diagnosed and treated in the Sixth Affiliated Hospital of Guangzhou Medical University from January 2016 to August 2020 were collected and divided into group A(35-<40 years old,n=388)and group B(≥40 years old,n=210)according to ages.Karyotype analysis of amniotic fluid was performed at 17-24 weeks of gestation.Results A total of 107 abnormal chromosome karyotypes were diagnosed,47 of 388 in group A,12.11%(47/388),and 60 of 210 in group B,28.57%(60/210).The rate of chromosomal abnormalities in group B was higher than that in group A,the difference was statistically significant(P<0.05).Among 47 cases of abnormal chromosomes in group A,23 cases were aneuploidy(48.94%),17 cases were trisomy 21(36.17%),4 cases were trisomy 18(8.51%),2 cases were trisomy 13(4.26%),6 cases were sex chromosome abnormalities.There were 13 cases of polymorphism,accounting for 27.66%.In group B,there were 31 cases of aneuploidy(51.66%),24 cases of trisomy 21(40.00%),5 cases of trisomy 18(8.33%),2 cases of trisomy 13(3.33%),7 cases of sex chromosome abnormality(5%),and 4 cases of trisomy 21(40.00%).There were 16 cases of polymorphism,accounting for 26.67%.Conclusion The analysis of fetal amniotic fluid chromosome is related to reproductive effect.Karyotype analysis of amniotic fluid chromosomes in elderly pregnant women can detect fetal chromosome abnormalities and avoid the birth of abnormal chromosome children.