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目的探讨提高产前筛查率、转诊率及降低假阳性率的方法。方法对2013年5月至2014年6月自愿参加济宁市免费产前筛查的孕15-20w孕妇采集静脉血,测定血清中甲胎蛋自(AFP)的含量、人绒毛膜促性腺激素β亚单位(β—HCG)的含量及游离雌三醇(u E3)含量,利用美国Lifecycle风险软件计算其中位数倍数(MOM),结合B超检查进行唐氏综合征(DS)、爱德华氏综合征(Edward)及开放性神经管缺陷的筛查。唐氏综合征、爱德华氏综合征切割值分别为1/270和1/350,NTD切割值为AFP MOM>2.5。筛查高危根据孕妇条件选择无创基因检测或羊水穿刺术,无创基因检测高危者进一步行羊水穿刺术。结果筛查率由2013年5月的0.4%上升到2014年6月的83.40%,筛查高危转诊率由44.4%升到90.86%;在筛查的51 936例孕妇中,因胎儿DS高风险,发现染色体异常胎儿34例,其中DS32例,其他染色体异常2例;因Edward高风险,发现染色体异常7例,其中Edward 2例,其他染色体异常5例,因AFP MOM>2.5值者94例,结合B超检查,确诊开放性脊柱裂1例,无脑儿2例,死胎1例,胎龄错误20例。结论应用B超结合孕中期母血清标记物检测是筛查胎儿出生缺陷的有效方法。加强产前筛查与诊断的管理工作可以有效提高产前筛查的筛查率与诊断率。
Objective To explore ways to improve prenatal screening rate, referral rate and reduce the false positive rate. Methods Venous blood was collected from pregnant women aged 15-20 weeks who volunteered to participate in free prenatal screening in Jining City from May 2013 to June 2014. The serum levels of AFP, levels of human chorionic gonadotropin β Subunits (β-HCG) content and free estriol (u E3) content, using the United States Lifecycle risk software to calculate the median multiple (MOM), combined with B ultrasound examination of Down Syndrome (DS) Edward (Edward) and open screening for neural tube defects. Down’s syndrome, Edwards syndrome cut values were 1/270 and 1/350, NTD cut value AFP MOM> 2.5. High-risk screening according to the conditions of pregnant women choose noninvasive genetic testing or amniocentesis, noninvasive genetic testing for further risk of amniocentesis. Results The screening rate rose from 0.4% in May 2013 to 83.40% in June 2014, and the high-risk screening rate rose from 44.4% to 90.86%. Of the 51 936 pregnant women who were screened, the high DS Risk and found that there were 34 fetuses with chromosomal abnormalities, including DS32 cases and other chromosomal abnormalities in 2 cases. Due to high risk of Edward, 7 cases were found chromosomal abnormalities, of which 2 cases were Edward and 5 cases were other chromosomal abnormalities. 94 cases were AFP MOM> 2.5 , Combined with B-ultrasound, confirmed open spina bifida in 1 case, no brain in 2 cases, 1 case of stillbirth, gestational age error in 20 cases. Conclusion The application of B-supernatant maternal serum markers in the second trimester is an effective method to screen for fetal birth defects. Strengthening the management of prenatal screening and diagnosis can effectively improve the screening rate and diagnosis rate of prenatal screening.