摘要
目的探讨孕早期测量颈项透明层（NT）厚度与孕中期母体血清甲胎蛋白（AFP）和游离β绒毛膜促性腺激素（free-β-HCG）检测在筛查唐氏综合征（DS）中的意义和作用。方法对2010年6月至2014年3月来该院妇产保健门诊及住院的单胎孕妇共2 205例,于孕11-14周进行超声测定NT,NT≥3mm为高危;孕15-21周进行母亲血清标志物AFP和free-β-HCG测定,利用DS产前筛查分析系统软件评估DS风险率,风险率大于或等于1/270为高危。对筛查出的NT和（或）DS高危孕妇进行遗传学咨询,在知情同意下进行羊膜腔穿刺羊水细胞染色体检查。对单项NT或血清学检查与二者联合筛查结果进行比较。结果单项NT与单项血清学检测预测胎儿的特异度和假阴性率比较,差异无统计学意义（P=0.541）;而联合筛查组预测胎儿异常的特异度及假阴性率均增高,与单项NT检测结果比较,差异有统计学意义（P=0.04）。结论 NT、血清学检测两种方法不能互相取代,二者联合筛查可见增加阴性的排除能力,可使有创性诊断羊水穿刺更有针对性。
Objective To explore the significances and effects of thickness of nuchal translucency（NT）during the first trimester of pregnancy with joint detection of maternal serumα-fetoprotein（AFP）and freeβ-human chorionic gonadotropin（free-β-HCG）during the second trimester of pregnancy in screening of Down′s syndrome.Methods A total of 2 205 pregnant women of outpatient and inpatient from June 2010 to March 2014 were selected.The thickness of NT was detected from 11 to 14gestational weeks by ultrasound,NT≥3 mm was designed as a high risk.The levels of maternal serum AFP and free-β-HCG were detected from 15 to 21gestational weeks.Risks of DS were analyzed by the software of analysis system of DS prenatal screening,and the risk rate≥1/270 was designed a as high risk.Pregnant women of NT and/or DS in the high-risk received genetic consultations,and the invasive amniocentesis and chromosomal examination were performed with consent.The screening results of single NT or serological and joint detection were compared.Results There was no statistically significant difference in specificity and the false negative rate between NT screening and serological test,P=0.541.But the specificity and the false negative rate of joint detection all increased,and there was statistically significant difference between NT screening and joint detection（P=0.04）.Conclusion NT screening and serological test can′t replace each other.If two detection results are positive,joint detection can enhance the exclusive ability of negative patients,and improve the pertinence of invasive amniocentesis.
出处
《重庆医学》
CAS
北大核心
2015年第17期2381-2383,共3页
Chongqing medicine
关键词
唐氏综合征
颈部透明带检查
血清学试验
遗传筛查
Down＇s syndrome
nuchal translucency measurement
serological test
genetic screening
