羊水染色体核型分析在产前诊断中的应用  

Application of amniotic fluid chromosome karyotype analysis in prenatal diagnosis

作　　者：付红敏 FU Hong—min(Department of Medical Laboratory Science,Xuchang Maternal and Child Health Hospital,Xuchang,Henan 461000,China)

机构地区：[1]许昌市妇幼保健院医学检验科,河南许昌461000

出　　处：《医药论坛杂志》2022年第3期56-58,62,共4页Journal of Medical Forum

摘　　要：目的分析许昌地区符合产前诊断指征的孕妇的羊水细胞染色体核型,探讨各类产前诊断指征占比、异常核型发生的频率和类型及其与各种产前诊断指征之间的关系。方法选择2020年2月至2021年10月期间因不同产前诊断指征到许昌市妇幼保健院就诊的1564例妊娠中期孕妇,在彩超引导下通过羊膜腔穿刺术抽取羊水,处理后进行羊水细胞培养,后行胎儿染色体核型分析。结果本研究中的1564例羊水标本检出异常核型88例,异常率为5.6%(88/1564);其中数目异常29例,占比33%(29/88),21三体17例,18三体4例,克氏综合征(47,XXY)2例,超雌综合征(47,XXX)1例,Turner综合征(45,X)1例,染色体数目嵌合4例;结构异常11例,占比12.5%(11/88),倒位核型2例,缺失核型3例,易位核型3例,其他结构异常3例;多态性变异48例,占比54.5%(48/88)。结论目前,羊水细胞培养染色体核型分析技术在细胞遗传学产前诊断中具有较高的应用价值,该技术能及早发现和诊断染色体异常胎儿,对不同产前诊断指征的孕妇进行羊水细胞染色体核型分析,可提高胎儿染色体病的诊断率,对减少染色体异常胎儿的出生具有重要意义,可从优生方面提高我国出生人口的素质。Objective To analyze the chromosomal karyotypes of amniotic fluid cells of pregnant women eligible for prenatal diagnosis in Xuchang area,and to explore the frequency and types of abnormal karyotypes and their relationship with various prenatal diagnosis indications.Methods Totally 1564 pregnant women in the second trimester of pregnancy who visited our hospital from February 2020 to October 2021 with different prenatal diagnostic indications were selected for amniocentesis under the guidance of ultrasound.Later,amniotic fluid cell culture and fetal chromosome karyotype analysis were performed.Result A total of 88 cases of abnormal karyotype were detected in 1564 cases of amniotic fluid samples,the abnormality rate was 5.6%(88/1564);29 cases were abnormal in number,accounting for 33%(29/33),17 cases of trisomy 21,and 4 cases of trisomy 18,2 cases of Klinefelter syndrome(47,XXY),1 case of super-female syndrome(47,XXX),4 cases of Turner syndrome(45,X)and chromosome number mosaic;11 cases of structural abnormality,accounting for 12.5%,2 cases of inverted karyotype,3 cases of missing karyotype,3 cases of translocation karyotype,3 cases of other structural abnormalities;48 cases of polymorphic variants,accounting for 54.5%(48/88).Conclusion At present,chromosome karyotype analysis technology of amniotic fluid cell culture can help early detection and diagnosis of abnormal fetuses,and has high application value in cytogenetic prenatal diagnosis.Carrying out amniotic fluid cell karyotype analysis on pregnant women with different prenatal diagnosis indications to improve the diagnosis of fetal chromosomal diseases is of great significance to reducing the birth of fetuses with chromosomal abnormalities,and can improve the quality of our country’s birth population from the aspect of eugenics.

关 键 词：产前诊断 羊水细胞培养 异常核型 应用价值 遗传学 

分 类 号：R446.1[医药卫生—诊断学]