血清学筛查联合胎儿染色体非整倍体无创基因检测的临床价值探讨  

Clinical value of serological screening combined with noninvasive prenatal testing for fetal aneuploidy

作　　者：贾文娟[1] 计德永 王虎[1] 方立异[2] 许克义 Jia Wenjuan, Ji Deyong, Wang Hu, Fang Liyi, Xu Keyi.(1 Department of Gynaecology and Obstetrics ,the Maternal and Child Health Care Hospital of Huainan,Huainan,Anhui 232007, China ;2Anhui University of Science and Technology, Huainan, Anhui 232001, Chin)

机构地区：[1]淮南市妇幼保健院妇产科,安徽省淮南232007 [2]安徽理工大学,安徽省淮南232001

出　　处：《中国基层医药》2018年第6期705-708,共4页Chinese Journal of Primary Medicine and Pharmacy

基　　金：安徽省淮南市科技专项资金项目（2014A2104）

摘　　要：目的探讨血清学筛查联合胎儿染色体非整倍体无创基因检测（NIPT）在产前诊断中的应用价值，为今后减少遗传缺陷儿的出生提供指导性意见。方法回顾性分析进行产前咨询的孕妇15282例的血清学筛查和N1PT检测结果，唐氏综合征筛查（唐筛）高风险及临界值者建议行NIPT检测，严重异常核型儿建议终止妊娠。结果唐筛结果15282例血清学筛查标本检出高风险804例，高风险率为5．26％。804例唐筛高风险患者进一步进行NIPT，阳性为10例。其中8例经羊水穿刺证实，分别为21-三体综合征5例，18-三体综合征1例，性染色体异常2例（1例为45，XO，1例为47，XYY），结果一致性为100％。结论NIPT技术具有无创、安全、准确性高的优势，在诊断胎儿染色体异常疾病中具有广泛临床应用价值。Objective To investigate the value of serological screening combined with fetal aneuploidy prenatal noninvasive DNA test（NIPT） in prenatal diagnosis,and provide guidance for reducing the birth of children with genetic defects in the future. Methods A retrospective analysis was conducted in 15 282 pregnant women with prenatal counseling who performed serological screening and NIPT test. The high risk and critical TANG recommended NIPT test and severe abnormal karyotype children recommend termination of pregnancy. Results Down syndrome screening results showed that 804 cases of 15,282 cases of serological screening samples were detected in high risk, the high risk rate was 5.26%. A total of 804 patients with high risk of Don screen were further tested with noninvasive DNA,which was positive in 10 cases. Among them, 8 cases were confirmed by amniocentesis, including 5 cases of trisomy 21,1 case of trisomy 18 and 2 cases of sex chromosome abnormality （45,XO in one case and 47,XYY in one case） ,the consistency was 100.00%. Conclusion Noninvasive gene detection of fetal aneuploidy has the advantages of noninvasive ,safe and accurate. It has a wide range of clinical value in the diagnosis of fetal chromosomal abnormalities.

关 键 词：产前诊断 唐氏综合征 染色体障碍 

分 类 号：R714.5[医药卫生—妇产科学]