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目的探讨孕中期母血AFP、β-hCG、uE3三联筛查在减少出生缺陷中的应用价值。方法采用化学发光法对孕14-20w的孕妇进行血清学筛查。通过检测母血AFP、β-hCG、uE3三种激素并结合孕妇年龄、孕周、体重等因素,用ACCESS2配套的产前筛查软件综合评价孕中期孕妇之胎儿患21-三体综合征、18-三体综合征和神经管缺陷的风险度。对其中筛查高危的孕妇进行产前诊断,并对产前诊断临床资料进行回顾分析。结果在筛查的2834例孕妇中,风险度超过筛查标准的共221人,其中21-三体综合征高危妊娠179例,筛查阳性率为6.33%,18-三体综合征高危妊娠28例,筛查阳性率为0.98%,经过羊水染色体核型分析,出生缺陷监测和新生儿外周血染色体核型分析,共确诊3例21-三体综合征患儿,未见18-三体综合征患儿。检出神经管缺陷高危妊娠14例,筛查阳性率为0.5%,均经过彩超检查,共检出3例神经管缺陷胎儿。结论化学发光法孕中期三联筛查对于诊断胎儿染色体病及神经管缺陷具有重要的临床价值,可有效降低染色体病及神经管缺陷患儿的出生率,并对预测不良妊娠结局具有一定的应用价值。
Objective To investigate the value of trimester screening of maternal blood AFP, β-hCG and uE3 during pregnancy to reduce birth defects. Methods Chemiluminescence method for pregnant 14-20w pregnant women serological screening. Through the detection of maternal blood AFP, β-hCG, uE3 three hormones combined with the pregnant women age, gestational age, weight and other factors, with ACCESS2 supporting prenatal screening software comprehensive assessment of second trimester pregnant women with fetal trisomy 21, 18-trisomy syndrome and the risk of neural tube defects. Prenatal diagnosis was carried out on pregnant women who were screened at high risk. The clinical data of prenatal diagnosis were retrospectively analyzed. Results Of the 2834 pregnant women who screened, the risk of screening exceeded the screening criteria of a total of 221 people, of which 179 cases of high risk pregnancy trisomy 21, screening positive rate was 6.33%, 18 trisomy syndrome at high risk of pregnancy 28 Cases, the positive rate of screening was 0.98%, after amniotic fluid karyotype analysis, birth defects monitoring and neonatal peripheral blood chromosomal karyotype analysis, a total of 3 cases of trisomy 21 cases diagnosed in children, no 18-trisomy synthesis Children with sign. Fourteen cases of high risk pregnancy with neural tube defects were detected, and the positive rate of screening was 0.5%. All of them were examined by color Doppler ultrasound. Three cases of neural tube defects were detected. Conclusion Chemiluminescence triple-trimester screening in pregnancy has important clinical value in the diagnosis of fetal chromosomal diseases and neural tube defects, which can effectively reduce the birth rate of children with chromosomal diseases and neural tube defects and has certain value in predicting adverse pregnancy outcomes.