高危孕妇孕中期羊水细胞培养及染色体核型分析  

Amniotic Fluid Cell Culture and Chromosome Karyotype Analysis in high-risk Pregnant Women during mid Pregnancy

作　　者：王真真 沈雪 WANG Zhenzhen;SHEN Xue(Department of Obstetrics and Gynecology,Pingdingshan Maternal and Child Health Hospital,Pingdingshan Henan 467000,China)

机构地区：[1]平顶山市妇幼保健院妇产科,河南平顶山467000

出　　处：《临床研究》2023年第9期9-12,共4页Clinical Research

摘　　要：目的探讨孕中期羊水细胞培养的方法及进行染色体核型分析的临床价值。方法研究对象为2018年2月至2019年9月于平顶山市妇幼保健院进行遗传咨询及产前检查的326例高危孕妇,所有研究对象均在B超引导下抽取羊水后进行羊水细胞培养,并对羊水细胞进行核型分析。统计异常核型及异常类型检测情况;统计不同核型异常类型产妇妊娠结局。结果本研究中进行羊膜腔穿刺染色体核型分析的326例孕妇,均一次性羊水穿刺、羊水细胞培养成功,共筛查出25例存在染色体异常,检出率7.67%;其中253例唐氏筛查高风险的产妇检出15例(5.93%),其次为4例无创DNA提示异常的产妇均检出染色体核型异常(100.00%);16例超声异常的产妇检出3例(18.75%)。326例羊水细胞均培养成功,检出异常核型25例,其中数目异常占比76.00%;21-三体占比最高,为52.00%;其次是18-三体,为16.00%;性染色体异常占比16.00%,其中(45,XO)占比为8.00%;结构异常占比8.00%。不同核型异常类型产妇妊娠结局分析可见,24例产妇均引产,1例顺产后发现新生儿左手多指。结论遗传咨询工作为产前诊断中的重要内容,临床应予以重视,针对合并高危因素的孕妇应增加宣传及健康教育提高产前诊断率,降低出生缺陷。Objective To explore the method of amniotic fluid cell culture in mid pregnancy and the clinical value of chromosome karyotype analysis.Methods The research subjects were 326 high-risk pregnant women who underwent genetic counseling and prenatal examinations at the Pingdingshan Maternal and Child Health Hospital from February 2018 to September 2019.All the research subjects were subjected to amniotic fluid cell culture and karyotype analysis after amniotic fluid extraction under B-ultrasound guidance.The abnormal karyotype and abnormal type detection were counted,the pregnancy outcomes of pregnant women with different types of abnormal karyotypes were Calculated.Results In this study,326 pregnant women who underwent amniocentesis for chromosomal karyotype analysis were successfully subjected to amniocentesis and amniotic fluid cell culture.A total of 25 cases were screened for chromosomal abnormalities,with a detection rate of 7.67%;Among them,15 out of 253 high-risk pregnant women(5.93%)were detected through Down's screening,followed by 4 non-invasive DNA suggestive abnormal pregnant women who all detected chromosomal karyotype abnormalities(100.00%);Three out of 16 pregnant women with ultrasound abnormalities were detected(18.75%).326 cases of amniotic fluid cells were successfully cultured,and 25 cases of abnormal karyotypes were detected,with an abnormal number accounting for 76.00%;21-trisomy has the highest proportion at 52.00%;The second is trisomy 18-trisomy,accounting for 16.00%;Sex chromosome abnormalities accounted for 16.00%,with(45,XO)accounting for 8.00%;Structural abnormalities accounted for 8.00%.The analysis of pregnancy outcomes among different types of abnormal karyotypes in pregnant women shows that all 24 cases were induced labor,and 1 case was found to have multiple fingers in the left hand of the newborn after natural delivery.Conclusion Genetic counseling is an important part of prenatal diagnosis,and clinical attention should be paid to it.For pregnant women with combined high-risk factor

关 键 词：孕中期 羊水细胞培养 染色体核型分析 出生缺陷 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]