怀化地区7859例孕中期唐氏筛查和产前诊断结果分析

目的探讨孕中期唐氏筛查和产前诊断对检出胎儿染色体异常和妊娠不良结局的临床价值。方法应用时间分辨荧光免疫法对7859例孕中期(14-20周)妇女进行血清标记物三联方案(hA;FP+free-β-hCG+uE3)检测。筛查结果应用Multical软件计算21三体、18三体综合征和开放性神经管畸形的风险(rish)概率。对于高风险孕妇经遗传咨询,知情同意,自愿选择行产前诊断,于孕18-24周左右在超声引导下进行羊膜腔穿刺,抽取羊水培养进行胎儿染色体核型分析。并继续追踪胎儿和孕妇情况。结果在7859例孕妇中,筛查到高风险732例,唐氏筛查阳性率为7.65%(601/7859)。其中367例接受羊水或脐血穿刺产前诊断,占筛查高风险孕妇的50.13%(367/732);发现胎儿染色体异常16例,异常检出率4.36(16/367),其中6例唐氏综合征、5例18-三体综合征、4例Turner’s综合征、1例9号染色体臂间倒位。唐氏筛查高风险和低风险组不良妊娠结局分别为6.15%和1.46%,呈显著性差异(<0.05)。结论孕中期产前筛查是预测异常胎儿和不良妊娠结局的有效指标。结合羊水培养或脐血培养等产前诊断技术和方法,对预防先天缺陷儿出生、提高人口素质有重要临床应用价值。

Down analysis of 7859 cases of second trimester screening and prenatal diagnosis in Huaihua Region.

Objective： To investigate the second trimester prenatal diagnosis of Down＇s screening and detection of fetal chromosomal abnormalities and the clinical value of adverse outcomes of pregnancy.Methods：The time-resolved fluorescence immunoassay 7,859 cases of second trimester（14-20 weeks）women with serum markers triple regimen（hAFP＋free-β-hCG＋uE3）detection.Application software to calculate screening results Multical trisomy 21,trisomy 18 syndrome and open neural tube defects risk（rish）probability.For high-risk pregnant women by genetic counseling,informed consent,voluntarily choose to prenatal diagnosis,the pregnancy at 18-24 weeks amniocentesis under ultrasound guidance,taking amniotic fluid culture,fetal karyotype analysis.And continue to track the fetal and maternal conditions.Results：7859 cases of pregnant women,screening to high risk of 732 cases,positive rate of screening for Down 7.65%（601/7859）.367 cases in which receiving prenatal diagnosis of amniotic fluid or umbilical cord puncture,screening high-risk pregnant women accounted for 50.13%（367/732）;found 16 cases of fetal chromosomal abnormalities,abnormal detection rate of 4.36（16/367）,6 cases of Down′s syndrome,5 cases of 18-trisomy,Turner′s syndrome in 4 case.1case of chromosome 9 pericentric inversion.Down′s screening of high risk and low risk of adverse pregnancy outcomes were 6.15% and 1.46%,was significantly different（0.05）.Conclusion： The abnormal second trimester prenatal screening for fetal to predict adverse pregnancy outcomes and effective index.Cord blood with amniotic fluid culture or cultivation of prenatal diagnostic techniques and methods to prevent birth defects of children bom to improve the quality of the population has important clinical value.