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目的回顾性总结本院进行的孕早期、孕中期产前筛查以及序贯性产前筛查的情况,分析现有产前筛查体系在出生缺陷二级预防中的作用。方法对3 665例孕14～20周孕妇采用甲胎蛋白(AFP)+人绒毛膜促性腺激素游离β亚基(β-hCG)两联血清和超声筛查的方法进行产前筛查;512例孕9～12周孕妇采用β-hCG+人妊娠相关血浆蛋白A(PAPPA)+胎儿颈项透明层厚度(NT)三联检测进行早期筛查。结果总体筛查高风险率为8.52%,356例高风险孕妇中308例进行胎儿羊水细胞染色体核型分析,确诊唐氏综合征(DS)5例,18三体1例,47,XXY 1例;神经管缺陷(NTD)高风险的37例孕妇确诊为无脑儿1例,开放性脊柱裂1例。结论现有筛查体系对于染色体疾病的总体异常检出率约为3.25%,可以有效避免严重致畸胎儿的出生。
Objective To retrospectively review the status of prenatal and prenatal screening and sequential prenatal screening conducted in our hospital and to analyze the role of the existing prenatal screening system in secondary prevention of birth defects. Methods A total of 3 665 pregnancies aged 14 to 20 weeks were enrolled in this study. AFP + human chorionic gonadotropin-releasing β-serum (β-hCG) Pregnant women from 9 to 12 weeks of pregnancy were screened by triple-detection of β-hCG + PAPP and NT. Results The overall risk of screening was 8.52%. Among the 356 high-risk pregnant women, 308 cases were diagnosed as fetal karyotypes by amniotic fluid cytology. Five patients with Down Syndrome (DS), one with 18 trisomy 18, one with 47 and XXY Thirty-seven pregnant women with high risk of neural tube defects (NTD) were diagnosed as having no brain and 1 open spina bifida. Conclusion The overall detection rate of the existing screening system for chromosomal diseases is about 3.25%, which can effectively prevent the birth of severely teratogenic fetuses.