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目的探讨我县产前血清学筛查状况,最大程度地降低出生缺陷发生率。方法收集2013年1月至2014年12月在北京市密云妇幼保健院产前筛查中心进行孕中期产前筛查的孕妇血清标本约4512例,采用贝克曼(Beckman Access2)及统计系统,检测孕中期孕妇血清中甲胎蛋白(APF)、游离-β亚基-促绒毛膜性腺激素(f-β-HCG)和游离雌三醇(u E3)含量,结合孕妇年龄、孕周、体重等信息,通过孕中期唐氏筛查系统软件(Tcsoft Down′s)评估21三体综合征、18三体筛综合征、开放性神经管缺陷高危与否。孕妇产后2个月进行妊娠结局追访。结果 4512例筛查样本中21综合征高危347例,占7.69%;18三体筛综合征高危5例,占0.11%;开放性神经管缺陷高危108例,占2.39%。追访高危情况,其中有177例经羊水细胞培养检测或无创DNA检测,发现21三体儿4例;18三体综合征儿2例。108例开放性神经管缺陷高危,B超检查为无脑儿例1例,脊柱裂1例。结论产前血清学对筛查减少出生缺陷的发生,具有一定的意义。
Objective To investigate the prenatal serological screening in our county to minimize the incidence of birth defects. Methods A total of 4512 pregnant women were enrolled in prenatal screening screening at prenatal screening center of Miyun MCH in Beijing from January 2013 to December 2014. The serum samples were collected by Beckman’s Access 2 and statistical system. The content of serum alpha-fetoprotein (APF), free-beta subunit-promoting chorionic gonadotropin (f-beta-HCG) and free estriol (uE3) in pregnant women of the second trimester, combined with the age, gestational age, Information, trisomy 21 trisomy 18, trisomy 18, and high risk of open neural tube defects were evaluated by Tcsoft Down’s second trimester screening software. Pregnant women 2 months postpartum pregnancy outcome follow-up. Results Among the 4512 screening samples, 347 cases were high risk of syndrome 21, accounting for 7.69%. The high risk of trisomy 18 syndrome was 5 cases (0.11%). The high risk of open neural tube defects was 108 cases (2.39%). Follow-up of high-risk situations, of which 177 cases were detected by amniotic fluid cell culture or noninvasive DNA test found that 21 trisomy in 4 cases; 18 trisomy 18 in 2 cases. 108 cases of high risk of open neural tube defects, B-ultrasound in children without brain aneurysm in 1 case, 1 case of spina bifida. Conclusions Prenatal serology has some significance for screening to reduce the incidence of birth defects.