早孕期联合筛查法应用于唐氏综合征和18三体综合征的产前筛查  

Prenatal Screening of Down’s Syndrome and Trisomy 18 Syndrome by Combined Screening in first trimester

作　　者：郝荣 刘清秀 赵富清 陈光 HAO Rong;LIU Qing-xiu;ZHAO Fu-qing;CHEN Guang(Department of Obstetrics,Chongqing Kaizhou District People's Hospital,Chongqing,405400,China;Department of Gynecology,Hanzhong Central Hospital,Hanzhong,Shaanxi 723000)

机构地区：[1]重庆市开州区人民医院产科,重庆405400 [2]汉中市中心医院妇科,陕西汉中723000

出　　处：《中国优生与遗传杂志》2020年第11期1311-1313,1317,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨早孕期联合筛查法在唐氏综合征与18三体综合征产前筛查的应用价值。方法选择2016年1月至2019年6月间接受产前筛查的孕妇1276例,所有孕妇均进行血清学β-绒毛膜促性腺激素(β-hCG)、妊娠相关血浆蛋白A(PAPP-A)和超声胎儿颈项透明层厚度(NT)筛查,比较唐氏综合征和18三体综合征低危、高危孕妇早孕期血清β-hCG、PAPP-A及NT水平,分析单项筛查与联合筛查法对唐氏综合征和18三体综合征检出情况。结果唐氏综合征和18三体综合征高危孕妇11-13w血清β-hCG、PAPP-A水平显著低于低危孕妇,NT水平显著高于低危孕妇(P<0.05)。单项筛查及联合筛查法对唐氏综合征和18三体综合征的预测效果来看单项筛查与联合筛查法对唐氏综合征和18三体综合征检出率并无统计学差异(P>0.05),联合筛查法对唐氏综合征和18三体综合征的假阳性率显著低于单项筛查(P<0.05)。结论早孕期开展血清β-hCG、PAPP-A和超声NT联合筛查可以预测唐氏综合征和18三体综合征的风险,对于预防减少缺陷儿出生具有临床意义。Objective:To explore the value of combined screening in early pregnancy in prenatal screening of Down’s syndrome and trisomy 18 syndrome.Methods:1276 pregnant women who were screened indirectly from January 2016 to June 2019 were selected.All pregnant women were screened for serumβ-chorionic gonadotropin(β-hCG),pregnancy-related plasma protein A(PAPP-A)and neck transparent layer thickness(NT).The low-risk and high-risk pregnancies of Down’s syndrome and trisomy 18 syndrome were compared.Serum levels ofβ-hCG,PAPP-A and NT in early pregnancy were analyzed.The detection of Down’s syndrome and trisomy 18 syndrome by single screening and combined screening were analyzed.Results:The serum levels ofβ-hCG and PAPP-A in high-risk pregnant women with Down’s syndrome and trisomy 18 were significantly lower than those in low-risk pregnant women at 11-13 weeks,and NT levels were significantly higher than those in low-risk pregnant women(P<0.05).There was no significant difference in the detection rate of Down syndrome and trisomy 18 between single screening and combined screening(P>0.05).The false positive rate of combined screening for Down syndrome and trisomy 18 was significantly lower than that of single screening(P<0.05).Conclusion:The combined screening of serumβ-hCG,PAPP-A and NT in early pregnancy can predict the risk of Down’s syndrome and trisomy 18 syndrome,and has clinical significance in preventing and reducing birth defects.

关 键 词：唐氏综合征 18三体综合征 联合筛查法 早孕 

分 类 号：R714.5[医药卫生—妇产科学]