超声联合血清甲胎蛋白、游离β绒毛膜促性腺激素水平检测对孕中期胎儿染色体异常诊断特异度及阳性检出率的影响  

Effect of ultrasonography combined with joint detection of serum alpha fetoprotein and free β-human chorionic gonadotropin on diagnostic specificity and positive detection rate of fetal chromosomal abnormalities during the second trimester of pregnancy

作　　者：宋筱玉[1] 唐中锋 林晓娟[1] 吴菊[1] 孙庆梅[1] SONG Xiao-Yu;TANG Zhong-Feng;LIN Xiao-Juan(Prenatal Diagnosis Center,Gansu Provincial Maternal and Child Health Care Hospital,Lanzhou,Gansu 730050,China)

机构地区：[1]甘肃省妇幼保健院产前诊断中心,甘肃兰州730050

出　　处：《中国妇幼保健》2018年第17期3955-3958,共4页Maternal and Child Health Care of China

基　　金：甘肃省卫生行业科研计划项目(GSWSKY2017-20)

摘　　要：目的探讨超声联合血清游离β绒毛膜促性腺激素(free-β-h CG)、甲胎蛋白(AFP)水平检测对孕中期胎儿染色体异常诊断特异度及阳性检出率的影响,为临床诊治提供参考依据。方法选取2011年11月-2016年11月甘肃省妇幼保健院2 895例单胎产妇,所有孕妇均于孕中期(孕13～28周)进行超声检查及母体血清free-β-h CG、AFP检查,多个超声软指标(≥2个)阳性的胎儿染色性异常视为高危;并依据母体血清生物化学指标(血清学指标)检测结果,计算染色体异常风险值,风险值>风险截断值(唐氏综合征风险率1/270)则视为高危。针对血清学指标高危和(或)超声软指标高危孕妇进行遗传学咨询、羊膜腔穿刺羊水细胞染色检查;追踪2 895例孕妇直至妊娠结局,对比单项及联合筛查结果。结果超声软指标、母体血清学指标及二者联合筛查胎儿染色体异常阳性检出率相比,差异无统计学意义(P>0.05);超声软指标、母体血清学指标筛查胎儿染色体异常特异度相比,差异无统计学意义(P>0.05);超声软指标、母体血清学指标筛查胎儿染色体异常特异度均低于二者联合筛查,差异有统计学意义(P<0.05)。结论超声软指标联合血清AFP、free-β-h CG检测,可进一步提高孕中期胎儿染色体异常诊断特异性,有助于减少染色体异常患儿出生,对提升出生人口质量具有重要意义。Objective To explore the effect of ultrasonography combined with joint detection of serum alpha fetoprotein（ AFP） and free β-human chorionic gonadotropin（ free-β-h CG） on diagnostic specificity and positive detection rate of fetal chromosomal abnormalities during the second trimester of pregnancy,provide a reference basis for clinical diagnosis and treatment. Methods From November 2011 to November 2016,2 895 women of singleton pregnancy were selected from Gansu Provincial Maternal and Child Health Care Hospital,ultrasonography and joint detection of serum AFP and free-β-h CG were performed among the pregnant women during the second trimester of pregnancy（ 13-28 gestational weeks）. The cases with many positive ultrasonic soft markers（ ≥2） of fetal chromosomal abnormalities were high-risk cases. The risk value of chromosomal abnormalities was calculated according to the detection results of maternal serum biochemical indexes. Risk valuerisk cutoff value（ Down＇s syndrome risk rate： 1/270） was designed as high-risk criterion. Genetic counseling,amniocentesis,and chromosomal examination of amniotic fluid cells were conducted among the high-risk pregnant women of serological indexes and ultrasonic soft markers. All the pregnant women were followed up till delivery. The screening results of single indexes and joint detection were compared. Results There was no statistically significant difference in the positive detection rate of fetal chromosomal abnormalities among ultrasonic soft markers,maternal serological indexes,and joint detection（ P〉0. 05）. There was no statistically significant difference in specificity of fetal chromosomal abnormalities between ultrasonic soft markers and maternal serological indexes（ P〉0. 05）. The specificities of fetal chromosomal abnormalities of ultrasonic soft markers and maternal serological indexes were statistically significantly lower than that of joint detection（ P〈0. 05）. Conclusion Ultrasonic soft markers combined with joint detection

关 键 词：超声 甲胎蛋白 游离β绒毛膜促性腺激素 孕中期 胎儿染色体异常 

分 类 号：R714[医药卫生—妇产科学]