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目的探讨孕中期母血清标志物产前筛查与羊水染色体检查产前诊断的结果,从而提高产前筛查和诊断的准确率,降低出生缺陷的发病率。方法对孕15-19+6周孕妇静脉采血3ml,采用时间分辨荧光分析法测定孕妇血清甲胎蛋白(AFP)、人绒毛膜促性腺激素(β-HCG)和游离E3(u E3)浓度,进行产前筛查,对检查结果显示高危的孕妇采取羊水穿刺,进行核型分析。结果在5178例接受唐氏征筛查孕妇中,筛查出高风险孕妇356人,占6.9%(356/5178)。其中21-三体高风险330例,筛查阳性率6.4%(330/5178);18-三体高风险3例,筛查阳性率0.06%(3/5178);神经管缺陷高风险23例,筛查阳性率0.4%(23/5178)。301例阳性病例自愿进行羊水穿刺染色体核型分析,B超或待分娩后进行随访,确诊4例,其中21-三体综合征2例,18-三体综合征1例,神经管缺陷高风险经B超检出胎儿脐膨出1例,阳性确诊率为1.12%(4/356);而低危组中有1例确诊为21-三体,假阴性率为0.02%(1/4822)。高危、低危病例两组间发病率比较有统计学差异(P<0.01)。结论妊娠妇女进行产前筛查和诊断是非常必要的,有助于降低出生缺陷的发病率,提高人口素质,在优生优育工作中起到重要作用。
Objective To explore the prenatal diagnosis of maternal serum markers in the second trimester of pregnancy and the results of prenatal diagnosis of amniotic fluid chromosome to improve the accuracy of prenatal screening and diagnosis and reduce the incidence of birth defects. Methods Blood samples were collected from 3-15 ml pregnant pregnant women at 15-19 + 6 weeks of gestation and serum levels of AFP, β-HCG and free E3 (uE3) were measured by time-resolved fluorescence analysis. Prenatal screening, examination results showed that pregnant women at high risk to take amniocentesis, karyotype analysis. Results Among 5178 pregnant women undergoing Down’s syndrome screening, 356 high-risk pregnant women were screened, accounting for 6.9% (356/5178). Among them, 330 cases were high risk of trisomy 21, and the positive rate of screening was 6.4% (330/5178). There were 3 cases with high risk of trisomy 18, the positive rate of screening was 0.06% (3/5178), 23 cases of high risk of neural tube defects Check the positive rate of 0.4% (23/5178). 301 cases of positive cases of amniocentesis by chromosomal karyotype analysis, B-ultrasound or to be followed up after delivery, diagnosed in 4 cases, including 21 cases of trisomy syndrome in 2 cases, 18 cases of trisomy syndrome, high risk of neural tube defects One case of umbilical swelling was detected by B-ultrasound, and the positive diagnosis rate was 1.12% (4/356). In the low-risk group, one case was diagnosed as 21-trisomy and the false-negative rate was 0.02% (1/4822) . The incidence of high-risk and low-risk cases was significantly different between the two groups (P <0.01). Conclusions It is necessary for pregnant women to carry out prenatal screening and diagnosis, which will help to reduce the incidence of birth defects and improve the population quality, which play an important role in prenatal and postnatal care.