摘要
目的探讨不同产前诊断指征及颈项透明层(nuchal translucency,NT)与胎儿染色体异常的相关性及无创产前基因检测(non-invasive prenatal testing,NIPT)的阳性预测值。方法选择2013年1月1日至2016年12月31日于本院就诊的11 066例具有产前诊断指征的孕妇,通过经腹绒毛活检、羊水或脐血穿刺等方法进行胎儿染色体核型、基因拷贝数、荧光原位杂交等分析。结果 11 066例孕妇中,羊水穿刺10 306例,脐带血穿刺496例,绒毛活检142例,组织送检109例,胎儿镜检查13例。羊水穿刺最常见的指征是高龄(≥35周岁)(58.4%,6007/10 280),脐带血穿刺及绒毛活检最常见的指征是胎儿超声异常(75.6%,360/476;90.8%,129/142)。产前诊断指征中,NIPT高风险孕妇胎儿染色体异常检出率最高(58.9%,176/299),其次是夫妻染色体异常(20.4%,10/49)及胎儿超声异常(17.0%,209/1226)。胎儿染色体异常的发生随NT厚度的增加而显著增加,NT≥2.5mm的胎儿总体染色体异常检出率为21.0%;NIPT高风险产妇总体阳性预测值为57.2%,其中21-三体阳性预测值最高(75.9%)。结论高龄和胎儿超声异常是主要的产前诊断指征。产前诊断指征中,NIPT高风险、夫妻染色体异常及胎儿超声异常时,胎儿染色体异常检出率较高。对NIPT在胎儿染色体筛查中的作用需要理性看待。
Objective To explore the value of invasive prenatal diagnosis for different indications. Method This was a retrospective study on 11 065 pregnancies which underwent prenatal diagnosis, including chorionic villi （CV）, amniotic fluid or cordocentesis, the indication of the procedures and results were evaluated. Result During the four-year period, 142 cases of CVS were involved. The proportion of＂abnormal ultrasound findings＂ was the most popular indication （90.8%, 129/142）. The most popular indication of amniocentesis was ＂advanced maternal age＂ （58.4%,6007/10 280）, the most popular indication of cordocentesis was abnormal ultrasound findings （75.6%, 350/475）. 176 （58.9%, 175/299） cases of chromosome abnormities were diagnosed with indication of high risk of NIPT, 10 （20.4%, 10/49） cases of chromosome abnormities were diagnosed with indication of chromosomal abnormalities of one of the couple, 209 （17.0%, 209/1226） cases of chromosome abnormities were diagnosed with abnormal ultrasound findings. 85 cases of aneuploidy were diagnosed in 404 pregnant women with abnormal NT, with the overall positive diagnostic rate of 21.0%. The positive predictive value for the women with high risk for trisomy 21, trisomy 18, trisomy 13 and X chromosome aneuploidy were 75.9%, 64.4%, 13.0% and 43.5% respectively. Conclusion Advanced maternal age and abnormal ultrasound findings were the main indication for prenatal diagnosis, the positive diagnostic rate was higher in women with high risk of NIPT, chromosomal abnormalities of one of the couple and abnormal ultrasound findings than those of other groups. The positive predictive value of NIPT for trisomy 21 or trisomy 18 is relatively high, but is much lower for trisomy 13 or X chromosome aneuploidy.
作者
侯磊
李莉
张涛
王欣
HOU Lei, LI Li, ZHANG Tao, WANG Xin(Department of Obstetrics, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, Chin)
出处
《中国医刊》
CAS
2018年第3期314-317,共4页
Chinese Journal of Medicine
关键词
侵入性
产前诊断
染色体异常
颈项透明层
Invasive, Prenatal diagnosis
Chromosomal abnormality
Nuchal translucency
