Fang Yuan, Wang Guangming, Wang Chuanxia, Suo Feng, Gu Maosheng, Xia Yujuan
Genetic Medical Center, Xuzhou Maternity and Child Health Hospital, 46 Heping Road, Yunlong District, Xuzhou, 221009, Jiangsu, China.
Department of Radiology, Xuzhou Central Hospital, Xuzhou, China.
Cell Biochem Biophys. 2015 Nov;73(2):267-270. doi: 10.1007/s12013-015-0594-8.
The objective of this study is to explore the diagnosis pattern of mid-trimester fetal chromosomal aneuploidy and its clinical applications. A large group of pregnant women (18-34 years) received dual serological screening. The elderly pregnant women, who were at high and critical risk and refused amniocentesis, underwent non-invasive detection of fetal DNA upon recommendation. Then, the pregnant women with positive non-invasive detection results received amniocentesis, amniotic cell culture, and karyotype analysis for confirmation. In total, 24,520 women and 629 elderly women (>35 years) received amniocentesis, amniotic cell culture, and karyotype analysis, and 1512 women received non-invasive detection of fetal DNA. A total of 275 women received invasive prenatal diagnosis. Seventeen cases of trisomy 21, 3 cases of trisomy 18, and 2 cases of sex chromosomal abnormality were diagnosed. The serological screening-gene detection-prenatal diagnosis for mid-trimester fetal chromosomal aneuploidy increased the detection rate, and decreased the frequency of invasive prenatal diagnosis.
本研究的目的是探讨孕中期胎儿染色体非整倍体的诊断模式及其临床应用。一大组孕妇（18 - 34岁）接受了双重血清学筛查。高龄高危且拒绝羊膜穿刺术的孕妇，经建议后接受了胎儿DNA的无创检测。然后，无创检测结果为阳性的孕妇接受羊膜穿刺术、羊水细胞培养和核型分析以进行确诊。共有24520名妇女和629名高龄妇女（>35岁）接受了羊膜穿刺术、羊水细胞培养和核型分析，1512名妇女接受了胎儿DNA的无创检测。共有275名妇女接受了侵入性产前诊断。诊断出17例21三体、3例18三体和2例性染色体异常。孕中期胎儿染色体非整倍体的血清学筛查 - 基因检测 - 产前诊断提高了检测率，并降低了侵入性产前诊断的频率。
