低龄妊娠中期妇女唐氏筛查的结果分析

目的探讨低龄(<35岁)妊娠中期妇女血清三联检测对于唐氏综合征(DS)、18-三体综合征(Triso-my18)、开放性脊柱裂(OSB)等严重先天性缺陷儿宫内诊断的临床价值,以及不同高风险值的范围区间。方法用全自动化学发光分析仪检测1 450例妊娠14～21周孕妇血清中甲胎蛋白、游离雌三醇、人绒毛促性腺激素的值,应用上海腾程公司妊娠期胎儿DS产前筛查软件,结合妊娠周数、年龄、体质量等指标综合风险评估,判断1 450例妊娠中期胎儿的风险情况。结果筛查出高危61例,阳性率4.21%,其中DS高危21例,阳性率1.45%,OSB 40例,阳性率2.76%,Trisomy18高危未检测出。其中10例进行了羊水穿刺,经染色体核型分析确诊DS 1例,经三维彩超确认OSB 2例,待分娩后确诊其余胎儿均为阴性。结论孕中期产前筛查是预测先天性宫内缺陷胎儿的有效指标,结合羊水培养、染色体检查、三维彩超对预防先天性缺陷儿的出生有重要临床价值。

Results analysis on screening of Down syndrome in younger mid-trimester pregnant women

Objective To investigate the clinical value of serum triple test in young mid-trimester pregnant women （〈35 years old） in intrauterine diagnosis of Down syndrome（DS）,Trisomyl8,open spina bifida （OSB） and other severe congenital defects,and the range of different high-risk values. Methods The serum AFP, uE3 and T-βHCG levels in 1450 pregnant women with 14--21 weeks were detected by the fully automated chemiluminescence analyzer, and the comprehensive risk assessment was performed by the software of Down symptom prenatal screen- ing made by Shanghai Tengcheng company, combined with gestational age, age, weight and other indicators. Results 61 cases of high risk were screened out with the positive rate of 4.21%, in which 21 cases were DS risk with the posi- tive rate of 1.45% ,40 cases were OSB risk with the positive rate of 2.76% ,and Trisomyl8 risk was not detected. 10 cases accepted amniocentesis,in which 1 case was diagnosed as DS by karyotype analysis,and 2 cases were diagnosed as OSB by 3D color Doppler ultrasound,and the rest were negatively diagnosed after delivery. Conclusion The mid- trimester prenatal screening is the effective indicator for identifying the congenital intrauterine defects, and its com- bined use with amniotic fluid culture, chromosome, and 3D ultrasound is of significant clinical value for preventing birth of fetus with congenital defects.