摘要
目的:探讨无创产前检测技术(NIPT)在单胎妊娠孕妇性染色体非整倍体异常(SCAs)检测的应用价值。方法:收集2015~2019年在桂林市妇幼保健院产前诊断中心进行无创产前检测的17134例单胎妊娠的孕妇,提取孕妇血浆中的胎儿游离DNA后行高通量测序。对结果提示SCAs且接受有创核型检测的孕妇,经腹羊膜腔穿刺抽取羊水后行常规羊水细胞核型分析。结果:17134例孕妇NIPT筛查结果提示性染色体异常112例,检出率为0.654%。其中102例行羊膜腔穿刺,羊水细胞核型分析显示37例为性染色体异常,总阳性预测值为36.3%。所有性染色体异常类型中,45,XO、47,XXX、47,XXY、47,XYY的阳性预测值分别为19.6%、47.8%、58.3%、50.0%。35例异常核型胎儿中18例(51.4%)选择继续妊娠。结论:NIPT可作为SCAs的产前筛查手段,但其检测效能还需进一步的提高。
Objective:To explore the application value of non-invasive prenatal detection(NIPT)in the detection of abnormal sex chromosome aneuploidy(SCAs)in singleton pregnant women.Methods:A total of 17,134 singleton pregnant women who underwent non-invasive prenatal detection in ourhospital from 2015 to 2019 were collected.The fetal free DNA from maternal plasma was extracted and high-throughput sequencing was performed.For pregnant women with SCAs and invasive karyotype detection,amniotic fluid was collected by abdominal amniocentesis and routine amniotic fluid karyotypeanalysis was performed.Results:The results of NIPT screening in 17,134 pregnant women showed that there were 112 cases of sex chromosome abnormalities,with a detection rate of 0.654%.Amniocentesis was performed in 102 cases,amniotic fluid karyotypeanalysis showed that 37 cases were sex chromosome abnormalities,with a total positive predictive value of 36.3%.Among all the types of sex chromosome abnormalities,the positive predictive values of 45,XO、47,XXX、47,XXY、47,XYY were 19.6%,47.8%,58.3%and 50%,respectively.18(51.4%)chose to continue pregnancy among the 35 fetuses with abnormal karyotype.Conclusion:NIPT can be used as a method of prenatal screening for SCAs,but its detection efficiency still needs to be further improved.
作者
唐玲芳
梁安平
李羽芳
付玲
Tang Lingfang;Liang An’ping;Li Yufang;Fu Ling(Guilin Maternity and Child Health Care Hospital,Guilin 541001,China)
出处
《广西医科大学学报》
CAS
2020年第11期2059-2062,共4页
Journal of Guangxi Medical University
基金
桂林市科学研究与技术开发计划项目(No.20170109-40)。
关键词
无创产前检测
性染色体非整倍体异常
阳性预测值
父母妊娠选择
non-invasive prenatal examination
sex chromosome aneuploidy abnormality
positive predictive value
choice of parental pregnancy
