摘要
目的观察1968例孕妇羊水细胞染色体核型及产前诊断指征情况,并分析不同产前诊断指征孕妇羊水细胞染色体核型异常发生情况。方法选取2019年12月至2021年7月于焦作市妇幼保健院行羊水穿刺的1968例高危孕妇为研究对象。孕妇入院时,调查并记录其不同产前诊断指征。均在B超引导下进行羊水穿刺,观察羊水细胞染色体核型异常发生情况及孕妇产前诊断指征分布情况,并分析不同产前诊断指征孕妇羊水细胞染色体核型异常发生情况。结果1968例孕妇产前诊断指征中高龄、血清学筛查异常占比较高,分别为40.70%、52.54%。1968份羊水细胞中共检出47例染色体核型异常,占2.39%(47/1968),其中染色体数目异常占57.45%(27/47),染色体结构异常占25.53%(12/47),嵌合体占17.02%(8/47)。羊水细胞染色体核型异常孕妇中高龄、血清学筛查异常占比分别为31.91%、55.32%。高龄、血清学筛查异常、夫妇一方或双方染色体异常、不良孕产史、超声异常孕妇染色体核型异常检出率分别为1.87%、2.51%、50.00%、4.35%、1.92%。结论对具有不同产前诊断指征的高危孕妇进行羊水细胞染色体核型分析,有助于发现胎儿染色体数目异常、结构异常及嵌合体。
Objective To observe the chromosome karyotype of amniotie fluid cells and the indications of prenatal diagnosis in 1968 pregnant women,and to analyze the chromosome karyotype abnormalities of amniotic fluid cells in pregnant women with different prenatal diagnosis indications.Methods A total of 1968 high-risk pregnant women who underwent amniocentesis in Jiaozuo Maternal and Child Health Hospital from December 2019 to July 2021 were selected as the research subjects.When the pregnant women were admitted to the hospital,their different prenatal diagnostic indications were investigated and recorded.They all underwent amniocentesis under the guidance of B-ultrasound.The occurrence of abnormal chromosome karyotype of amniotic fluid cells and the distribution of prenatal diagnosis indications of pregnant women were observed,and the chromosomal karyotype abnormalities of amniotic fluid cells in pregnant women with different prenatal diagnosis indications were analyzed.Results Among 1968 pregnant women,the elderly and abnormal serological screening accounted higher in prenatal diagnosis indications,for 40.70% and 52.54% respectively.A total of 47 cases of abnormal chromosome karyotype were detected in 1968 amniotic fluid cells,accounting for 2.39%(47/1968),of which 57.45%(27/47)were abnormal chromosome number,and 25.53%(12/47)were abnormal chromosome structure and 17.02%(8/47)were chimera.The elderly and serological screening abnormalities in pregnant women with abnormal chromosome karyotype of of amniotic fluid cells accounted for 31.91%and 55.32% respectively.The detection rates of chromosomal karyotype abnormalities in elderly women,abnormal serological screening,chromosomal abnormalities in one or both couples,adverse pregnaney and childbith history and abnormal ulrasound were 1.87%,2.51%,50.00%,4.35%and 1.92% respectively.Conclusion Karyotype analysis of anniotic fluid cells is carried out for high-risk pregnant women with different prenatal diagnostic indications,which is helpful to find fetal chromosome number,st
作者
马宇飞
郭敏
赵金支
MA Yufei;GUO Min;ZHAO Jinzhi(Department of Medical Genetics and Prenatal Diagnosis,Jiaozuo Maternal and Child Health Hospital,Jiaozuo 454150,China)
出处
《河南医学研究》
CAS
2022年第7期1270-1273,共4页
Henan Medical Research
关键词
羊水细胞
染色体核型
产前诊断
amniotic fluid cells
chromosome karyotype
prenatal diagnosis
