【摘要】 目的:探讨孕中期产前筛查和产前诊断在临床中的应用和意义。方法:应用时间分辨法,以血清AFP、β-HCG作为指标,对4 760例在孕15～20+6周孕妇进行产前筛查,对筛查为高风险的孕妇进行一对一的遗传咨询和产前诊断,并在产后3月内对其分娩结局进行随访观察。结果:随访中发现有不同程度畸形、流产、死胎等不良妊娠共29例:高风险者6例,低风险者23例。其中羊水染色体异常2例、超声检查检出各种畸形(开放性神经管畸形如脊柱裂、小头畸形、脑膨出等)6例、内脏畸形(如先心病、肾发育不良、胎儿宫内发育异常等)5例。不明原因死胎、晚期流产3例,21-三体新生儿1例(产前筛查唐氏高风险而拒绝羊水穿刺细胞学检查所致)。结论:孕中期产前筛查和产前诊断可降低出生缺陷的发生。更多还原

【Abstract】 Objective: To explore clinical application and significance of prenatal screening and diagnosis.Methods: Time-resolved method was used with serum AFP,β-HCG as indicators in 4 760 pregnant women with pregnancy15-20+6weeks for prenatal screening.For high risk pregnant women,genetic counseling and prenatal diagnosis were provided,and in the postpartum period,the delivery outcome follow-up observation was done.Results: In the follow-up,we found 29 cases of varying degrees of deformity,abortion,stillbirth and other adverse pregnancy outcomes.6 cases were of high risk;23 were of low risk.The amniotic fluid chromosome abnormalities existed in 2 cases;ultrasonic examination in detection of various malformations: open neural tube defects such as spina bifida,microcephaly,encephaloc in 6 cases;visceral malformations such as congenital heart disease,renal dysplasia,intrauterine fetal growth abnormalities in 5 cases;an unexplained stillbirth,late abortion in 3 cases.21-trisomy 1 newborn in 1 case(prenatal screening for Down’s risk to the amniotic fluid puncture cytology).Conclusion: Prenatal screening and prenatal diagnosis can decrease the incidence of birth defects.更多还原