无创产前筛查对胎儿染色体异常的诊断价值  

Analysis of the diagnostic value of noninvasive prenatal testing for fetal chromosomal abnormalities

作　　者：周希 ZHOU Xi(Department of Maternity and Obstetrics Health,the Maternal and Child Health Hospital of Jian,Jiangxi Province,Ji'an343000,China)

机构地区：[1]江西省吉安市妇幼保健院孕产保健科,江西吉安343000

出　　处：《中国当代医药》2024年第20期61-64,共4页China Modern Medicine

基　　金：江西省卫生计生委科技计划项目(20194084)。

摘　　要：目的探讨无创产前筛查(NIPT)对胎儿染色体异常的产前诊断价值。方法选取2021年5月至2023年4月吉安市妇幼保健院收治的259例NIPT检测高风险孕妇作为研究对象,给予优生遗传学咨询,知情同意后行羊水穿刺。记录NIPT高风险孕妇的羊水细胞核型分析结果。结果259例NIPT高风险孕妇中,经羊水细胞核型分析显示,异常者共126例(占比48.65%),其中性染色体数目异常阳性率为51.22%、21-三体综合征阳性率为84.78%、18-三体综合征阳性率为47.83%、13-三体综合征阳性率为13.64%、常染色体异常阳性率为22.22%。259例NIPT高风险孕妇中经羊水细胞核型分析显示存在嵌合型表现者13例(5.02%),其中性染色体数目异常7例(2.38%),21-三体综合征1例(0.39%),18-三体综合征1例(0.39%),13-三体综合征1例(0.39%),常染色体数目异常3例(1.16%)。结论NIPT检测具有较高的特异度和敏感度,但对其筛查的高风险孕妇需进一步实施羊水穿刺予以确诊,为临床是否终止妊娠提供可靠的参考,提高优生优育。Objective To explore the prenatal diagnostic value of noninvasive prenatal testing(NIPT)for fetal chromosomal abnormalities.Methods A total of 259 high-risk NIPT pregnant women admitted to the Maternal and Child Health Hospital of Jian from May 2021 to April 2023 were selected as the study objects,and eugenics genetic counseling was given.After informed consent,amniocentesis was performed.The karyotype analysis results of amniotic fluid cells in high-risk pregnant women with NIPT were recorded.Results Among 259 high-risk pregnant women with NIPT,amniotic fluid cell karyotype analysis showed a false positive rate of 48.78%for chromosomal abnormalities,15.22%for 21-trisomy syndrome,52.17%for 18-trisomy syndrome,86.36%for 13-trisomy syndrome,and 77.78%for autosomal abnormalities.Among 259 high-risk pregnant women with NIPT,13 cases(5.02%)showed chimeric expression through amniotic fluid cell karyotype analysis,including 7 cases(2.38%)of abnormal sex chromosome number,1 case(0.39%)of 21-trisomy syndrome,1 case(0.39%)of 18-trisomy syndrome,1 case(0.39%)of 13-trisomy syndrome,and 3 cases(1.16%)of abnormal autosomal number.Conclusion NIPT detection has high specificity and sensitivity,but for high-risk pregnant women screened for it,further amniocentesis is needed to provide reliable reference for clinical termination of pregnancy and improve eugenics and fertility.

关 键 词：染色体异常 无创产前检测 羊水穿刺 产前诊断 

分 类 号：R596.1[医药卫生—内科学]