摘要
目的探讨无创产前筛查应用于检测胎儿染色体非整倍体异常的临床价值。方法选取2016年5月～2018年3月间892例于本院产科进行产前检查的孕妇作为本次研究对象。统一采集母体外周血应用无创产前DNA检测技术(NIPS)进行无创产前筛查,评估胎儿患染色体非整倍体疾病的风险。对筛查结果显示高风险孕妇进行染色体核型分析,探讨无创产前筛查对胎儿染色体非整倍体疾病的诊断价值。结果共检测892份外周血标本,检测结果显示高风险10例,阳性检出率1.12%。染色体核型分析:5例21-三体综合征、4例18-三体综合征、1例13-三体综合征;无创产前筛查:5例21-三体高风险、4例18-三体高风险、1例13-三体高风险。无创产前筛查与染色体核型分析结果完全符合。低风险孕妇随访:新生儿均未出现染色体非整倍体异常现象,预后良好。结论将无创产前DNA检测应用于产前筛查胎儿染色体非整倍体疾病中具有重要临床价值,该检测技术具有无创优势,敏感性及准确性均较高,对减少胎儿出生缺陷、提高整体生育质量等方面均具有重要意义。
Objective:To explore the clinical value of noninvasive prenatal screening in detecting fetal chromosomal aneuploidy.Methods:892 pregnant women who underwent prenatal examination in obstetrics department of our hospital from May 2016 to March 2018 were selected as the subjects of this study.Unified collection of maternal peripheral blood for noninvasive prenatal screening using noninvasive prenatal DNA detection technology(NIPS)to assess the risk of fetal chromosomal aneuploidy disease.The chromosome karyotypes of pregnant women at high risk were analyzed and the diagnostic value of noninvasive prenatal screening for fetal chromosome aneuploidy was discussed.Results:A total of 892 peripheral blood samples were detected.The results showed that 10 cases were at high risk,with a positive detection rate of 1.12%.Karyotype analysis:5 cases were 21-trisomy syndrome,4 cases were 18-trisomy syndrome and 1 case was 13-trisomy syndrome;non-invasive prenatal screening:5 cases were 21-trisomy high risk,4 cases were 18-trisomy high risk,1 case was 13-trisomy high risk.The results of noninvasive prenatal screening and karyotype analysis were in good agreement.Followed-up of low-risk pregnant women:Neonates had no chromosomal aneuploidy abnormalities and had a good prognosis.Conclusion:The application of noninvasive prenatal DNA detection in prenatal screening of fetal chromosomal aneuploidy diseases has important clinical value.The detection technology has noninvasive advantages,high sensitivity and accuracy,and is of great significance in reducing fetal birth defects and improving the overall quality of fertility.
作者
侯翠
唐晓霞
张平
李玉芳
杨志宏
HOU Cui;TANG Xiao-xia;ZHANG Ping;LI Yu-fang;YANG Zhi-hong(Department of Gynecology,Shenzhen Longgang Central Hospital,Guangdong 518116)
出处
《中国优生与遗传杂志》
2019年第4期441-442,451,共3页
Chinese Journal of Birth Health & Heredity
关键词
无创产前筛查
无创产前基因检测
胎儿染色体非整倍体
染色体核型分析
Noninvasive prenatal screening
Noninvasive prenatal gene detection
Fetal chromosome aneuploidy
Chromosome karyotype analysis
