摘要
目的:探究无创产前基因检测应用于性染色体非整倍体产前检查中的临床价值。方法:临床选择2015年7月至2017年10月医院单活胎孕妇300例。孕期进行血清学筛查,并应用Multicalc软件评估生化单项指标异常、临界风险、高风险情况;进行产前无创基因检测,应用高通量测序技术分析测序,对提示性染色体非整倍体异常的孕妇行羊膜腔穿刺,检查羊水细胞染色体核型;分析血清学筛查联合无创基因检测对胎儿非整倍体产前检查的临床价值。结果:血清筛查学检查结果显示,13、18、21三体综合征高风险30例(10. 00%),临界风险135例(45. 00%);生化单项指标异常,即游离雌三醇(u E3)、人绒毛膜促性腺激素(HCG)、甲胎蛋白(AFP)、妊娠相关血浆蛋白A(PAPP-A)者135例(45. 00%);共检测染色体非整倍体无创基因180例,占研究人数的60. 00%,且无创基因检测的180例中有16例高风险,经羊水染色确认为高风险,诊断率达到100%;介入性产前诊断仅进行羊膜腔穿刺术共120例;产前诊断确诊胎儿染色体异常非整倍体276例(92. 00%),其他24例(8. 00%);血清学筛查生化指标异常者其β-HCG水平高于生化指标正常者,而PAPP-A、u E3、AFP等指标水平低于生化指标正常者,差异具有统计学意义(P <0. 05)。结论:产前诊断应用产前无创基因检测与血清学筛查联合法可提高产前诊断的准确性及效率,降低胎儿染色体非整倍体发病率,对于临界风险值瓶颈线的突出起到关键作用。
Objective： To explore the clinical value of noninvasive prenatal gene detection in aneuploidy prenatal examination of sex chromosomes. Methods： From July 2015 to October 2017, 300 cases of single live fetuses were selected for serological screening during pregnancy. In addition, Multicalc software was applied to evaluate the abnormality, critical risk and high risk of single biochemical indexes. Non-invasive prenatal genetic testing was carried out, high-throughput sequencing was applied for analysis and sequencing, and amniocentesis was performed for pregnant women who were suggested to have abnormal chromosome aneuploidy to check the chromosome karyotype of amniotic cells. The clinical value of serological screening combined with noninvasive genetic testing in prenatal screening of aneuploidy was analyzed. Results： Serological screening showed that 13, 18, and 21 trisomy syndrome had high risk in 30 cases （10.00 %）, the critical risk in 135 cases （45.00 %）, and the biochemical single indexes such as uncojugated estriol （uE3）, human chorionic gonadotropin （HCG）, alpha fetal protein （AFP）, pregnancy-associated plasma protein A （PAPP-A） were abnormal in 135 cases （45.00 %）. The chromosome aneuploidy noninvasive gene was detected in 180 cases, accounting for 60.00 % of the number of the study objects. Of the 180 cases of noninvasive gene detection, 16 cases were identified as high risk by amniotic fluid staining, and the rate of diagnosis was 100 %. There were only 120 cases of amniocentesis in the interventional prenatal diagnosis. Prenatal diagnosis of abnormal fetal chromosomal aneuploidy was found in 276 cases （92.00 %）, and 24 cases were diagnosed as the other results （8.00 %）. The level of serum-HCG in patients with abnormal biochemical indicators was significantly higher than those with normal biochemical indexes, while levels of PAPP-A, uE3 and AFP were significantly lower than those with normal biochemical indexes（ P 〈0.05）. Conclusion： Prenatal diagnosis of noninvasive prenatal genetic testing and serological screening method can improve the accuracy and efficiency of prenatal diagnosis, and reduce the incidence of fetal chromosomal aneuploidy rate, which plays a key role in the projection of the bottleneck line of critical risk value.
作者
张映霞
ZHANG Yingxia(Center of Prenatal diagnosis,The Maternal and Child Health Care Planning Service Center of Meizhou City,Meizhou 514000,China)
出处
《包头医学院学报》
CAS
2018年第10期22-23,26,共3页
Journal of Baotou Medical College
