不良孕产史与胎儿染色体异常的相关性分析  

Analysis of the Correlation between the Adverse Pregnancy History and Fetal Chromosome Abnormalities

作　　者：薛丹丹 张俊绘 XUE Dandan;ZHANG Junhui(Baotou Medical School,Inner Mongolia University of Science and Technology,Baotou 014040 China;Inner Mongolian Maternal and Child Health Hospital,Hohhot 010020 China)

机构地区：[1]内蒙古科技大学包头医学院,内蒙古包头014040 [2]内蒙古自治区妇幼保健院产科,呼和浩特010020

出　　处：《内蒙古医学杂志》2024年第3期276-280,共5页Inner Mongolia Medical Journal

基　　金：内蒙古自治区自然科学基金项目(编号:2018LH08019)。

摘　　要：目的分析不良孕产史与胎儿染色体异常的相关性。方法选取2021年1月至2022年12月因不良孕产史就诊于内蒙古自治区妇幼保健院产前诊断中心行羊水穿刺的孕妇209例,观察不良孕产史合并夫妻染色体异常以及高龄时的染色体异常核型发生频率、分布和统计特征。结果仅以不良孕产史为指征的孕妇中染色体核型分析结果异常检出率为0.96%,检出结果均为染色体结构异常;多项指征的异常核型发生率均显著高于单项指征,检出率差异具有统计学意义(P<0.05);不良孕产史合并夫妻染色体异常的染色体核型结果异常检出率为3.83%(8/209),占总染色体核型异常的26.67%(8/30),检出染色体核型均为结构异常,当不良孕产史合并夫妻一方染色体异常时可存活的子代染色体1/2的概率会与其父或其母异常的染色体核型相同;不良孕产合并高龄的染色体核型结果异常检出率为5.74%(12/209),占总染色体核型异常的40.00%(12/30),检出染色体核型异常以数目异常为主(8/12),其中又以21-三体占比最高(5/8)。说明不良孕产史合并高龄的孕妇中胎儿染色体异常的主要类型依旧是21-三体综合征。结论具有不良孕产史的孕妇在产前行染色体核型分析可有效预防缺陷儿的出生。Objective This paper aims to analysis of the correlation between the Adverse pregnancy history and fetal chromosome abnormalities.Methods The karyotype analyses were carried out on 209 pregnant women with prenatal diagnosis indications in Inner Mongolian Maternal and Child Health Hospital from January 2021 to December 2022;Observe the incidence,distribution,and statistical features of adverse pregnancy and childbirth history combined with chromosome abnormality of one parent and at an advanced age.Results The abnormal detection rate of chromosome karyotype analysis was 0.96%in pregnant women with adverse pregnancy history alone,and all the detected results were chromosomal structural abnormalities.The incidence of abnormal karyotype in multiple indicator group was significantly higher than that in single indicator group,and the difference in detection rate was statistically significant(P<0.01).The detection rate of chromosome karyotype abnormalities in couples with adverse pregnancy history was 3.83%(8/209),accounting for 26.67%(8/30)of the total chromosome karyotype abnormalities.The karyotypes detected were all structural abnormalities.When a history of adverse pregnancy is combined with chromosomal abnormalities in one spouse,the probability of the surviving offspring chromosome is 1/2 the same as the chromosome karyotype of the abnormal parent or mother.The detection rate of abnormal chromosome karyotype results of adverse pregnancy combined with old age was 5.74%(12/209),accounting for 40.00%(12/30)of the total chromosome karyotype abnormalities.The number of abnormal chromosome karyotype abnormalities was mainly detected(8/12),and the proportion of trisomy 21 was the highest(5/8).These results indicate that trisomy 21 syndrome is still the main type of fetal chromosomal abnormality in old pregnant women with adverse pregnancy.Conclusion Prenatal karyotype analysis of pregnant women with adverse pregnancy history can effectively prevent the birth of defective.

关 键 词：不良孕产史 染色体异常 核型分析 

分 类 号：R394[医药卫生—医学遗传学]