某市孕中期产前筛查诊断结果分析

目的：通过对孕中期孕妇进行产前筛查及产前诊断，探讨其临床应用价值。方法对于35岁以下的孕妇，采用化学发光分析系统，测定孕中期（15～20＋6周）血清中甲胎蛋白（A FP ）、游离β人绒毛膜促性腺激素（Freeβ-HCG）及游离雌三醇（uE3）的浓度。采用配套风险评估软件计算出唐氏综合征（21-三体）、爱德华综合征（18-三体综合征）和神经管缺陷（ONTD）的风险值。筛查高风险者进行羊水穿刺确证。适应羊水穿刺及年龄大于或等于35岁的孕妇在知情同意的情况下直接进行产前诊断并行羊水穿刺。结果年龄小于35岁的孕中期孕妇2117例中筛查出高风险145例，筛查阳性率6．8％。其中有124例经过羊水培养对胎儿染色体进行分析，检查出1例唐氏综合征、1例18-三体综合征以及3例其他染色体异常。69例年龄大于或等于35岁的及51例适应羊水穿刺的孕妇中发现8例染色体异常。结论遂宁市孕中期产前筛查异常率高，为有效预防和减少出生缺陷，在孕中期进行产前筛查诊断意义重大。

Analysis on the prenatal screening and diagnosis in the second trimester of pregnancy

Objective To investigate the clinical application value of prenatal screening and diagnosis in the second trimester of pregnancy .Methods Pregnant women whose ages were less than 35 years old ,were detected with serum alpha-fetoprotein（AFP） ,human chorionic fluid（free-β-HCG） and free three female alcohol（Ue3） by using luminescence analysis system in the mid-gestation .According to detection result ,we made use of software system to compute risk value of Down′s syndrome ,Edward syndrome and neural tube defect .Once the high-risk pregnant women were found out ,we preceded prenatal diagnosis on them by means of amniotic fluid puncture .And for the pregnant women with the age over 35 or having indication were directly carried on amniotic fluid puncture prenatal diagnosis after Informed Consent .Results There were 145 cases to be at high risk among pregnant women with ages under 35 ,and the screening positive rate was 6 .8% .Among 124 cases which took amniotic fluid chromosome exami-nation ,1 cases of Down′s syndrome ,1 cases of Edwards′s syndrome and 3 cases of the other chromosome abnormality were found out respectively .In addition ,there were 8 cases of chromosome abnormality were diagnosis among the pregnant women with the age over 35 or having indication of amniotic fluid puncture .Conclusion The mid-gestation prenatal test abnormal rate is higher among pregnant women with age less than 35 years old in Suining ,and it is very important to perform mid-gestation prenatal screening in order to prevent and reduce born defects .