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目的:评价泰安市孕妇染色体异常和畸形胎儿的筛查结果及检出率。方法:采用时间分辨免疫荧光技术检测21 683例孕14～20周孕妇血清中AFP和Free-βHCG的浓度,使用产前筛查专用分析软件评估风险。建议21-三体综合征即唐氏综合征(Down’s Syndrome,DS)和18-三体综合征的高风险孕妇行胎儿羊水/脐带血染色体检查,开放性神经管缺陷(OpenNeural Tube Defect,ONTD)高风险者接受高分辨度超声检查。结果:21 683例孕14～20周孕妇,共筛查出高风险孕妇1 636例,其中1 268例孕妇接受超声检查和胎儿羊水或脐血染色体培养分析,确诊先天愚型9例,漏诊1例,18-三体综合征7例,其他染色体异常42例,28例开放性神经管伴有其他畸形。结论:孕中期产前筛查和产前诊断是减少先天缺陷患儿出生的有效方法。
Objective: To evaluate the screening results and detection rate of chromosomal abnormalities and malformation fetuses in pregnant women in Taian city. Methods: The serum levels of AFP and Free-βHCG in 21 683 pregnant women from 14 to 20 weeks of pregnancy were detected by time-resolved immunofluorescence. The risk was estimated using prenatal screening-specific analysis software. Recommendations 21 - Trisomyces: Down’s syndrome (DS) and high-risk pregnancies with trisomy 18. Fetal amniotic fluid / umbilical cord chromosome examination, Open Neural Tube Defect (ONTD) High-risk patients underwent high-resolution ultrasound. Results: A total of 1 636 pregnant women with high risk were screened out from 21 683 pregnant women aged 14 to 20 weeks. Among them, 1 268 women were subjected to ultrasound examination and fetal amniotic fluid or cord blood chromosome analysis. 9 cases of Down’s syndrome Cases, 18 cases of trisomy syndrome in 7 cases, 42 cases of other chromosomal abnormalities, 28 cases of open neural tube accompanied by other deformities. Conclusion: The second trimester prenatal screening and prenatal diagnosis are effective methods to reduce the birth of children with birth defects.