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目的:评价妊娠中期(AFP/β-hCG)唐氏综合征/神经管缺陷产前筛查系统产前筛查唐氏综合征和神经管缺陷的临床应用价值。方法:采用酶联免疫检测试剂检测秦皇岛市第一医院于2005年1月～2007年12月9372例孕龄为14～20周,年龄为20～45岁妊娠妇女AFP/β-hCG,并结合孕妇年龄、孕周、体重及身高比值等其它因素,用唐氏综合征产前筛查风险估算和管理软件综合评价孕中期妇女妊娠唐氏综合征和神经管缺陷的风险度。结果:检出唐氏综合征高危妊娠876例,筛查阳性率为9.35%,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,共筛查出16例唐氏综合征患儿,而在低高危妊娠中发现1例唐氏综合征患儿。检出神经管缺陷高危妊娠48例,筛查阳性率为0.5%,均经过B超检查,共检出16例神经管缺陷胎儿;在9324例神经管缺陷低危妊娠中,未发现神经管缺陷患儿。结论:AFP/β-hCG产前筛查提高了唐氏综合征和神经管缺陷患儿的检出率,最大可能避免了这些缺陷儿的出生,同时也减少了因唐氏综合征和神经管缺陷导致的围产儿死亡,具有明显的经济效益和社会效益。
Objective: To evaluate the clinical value of prenatal screening for Down’s syndrome and neural tube defects in the prenatal screening system of Down’s syndrome / neural tube defects during the second trimester of pregnancy (AFP / β-hCG). Methods: AFP / β-hCG in pregnant women aged 14 to 20 weeks and pregnant women aged 20 to 45 years from January 2005 to December 2007 in Qinhuangdao First Hospital was detected by enzyme-linked immunosorbent assay Pregnancy age, gestational age, weight and height-to-height ratios were used to assess the risk of Down’s syndrome and neural tube defects in pregnant women in the second trimester using the Down’s syndrome prenatal screening risk assessment and management software. Results: 876 pregnant women with Down’s syndrome at high risk were detected. The screening positive rate was 9.35%. After the amniotic fluid chromosome karyotype analysis, birth defects monitoring and neonatal peripheral blood chromosome karyotype analysis, 16 cases of Down syndrome Children with signs, and in low-risk pregnancies found in 1 child with Down Syndrome. 48 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 B-mode ultrasonography and 16 fetuses with neural tube defects were detected. No neural tube defect was found in 9324 low risk pregnancy with neural tube defects Children. CONCLUSIONS: AFP / β-hCG prenatal screening improves the detection rate in children with Down’s syndrome and neural tube defects, maximizes the chances of avoiding these defective births and reduces the risk of developing Down Syndrome and neural tube Perinatal death caused by defects, with obvious economic and social benefits.