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目的分析攀枝花市2年半的产前筛查/产前诊断情况。方法对6907例孕15～20+6w单胎妇女进行血清甲胎蛋白(AFP)和游离绒毛膜促性腺激素(β-hCG)二联标志物的筛查,对高风险孕妇进行遗传咨询,在知情同意的情况下选择羊水染色体检查以明确诊断。结果 6907例经产前筛查有288例为高风险,筛查阳性率达4.17%;253例染色体高风险孕妇,经知情同意有159例进行羊水产前诊断,诊断率62.84%;确诊胎儿染色体异常2例,其中唐氏综合征1例、18-三体1例。经随访共发现不良妊娠结局29例,其中唐氏综合征新生儿1例;2年半内共发生3例假阴性,假阴性率达0.45‰。结论妊娠中期产前筛查/产前诊断是防止出生缺陷、提高出生人口素质的有效手段。
Objective To analyze the prenatal screening / prenatal diagnosis of Panzhihua City for two and a half years. Methods A total of 6907 pregnant women with 15-20 + 6w single fetuses were screened for serum a-fetoprotein (AFP) and free-form chorionic gonadotropin (β-hCG) markers. Genetic counseling was performed on high-risk pregnant women. In the case of informed consent to choose amniotic fluid chromosome examination to confirm the diagnosis. Results A total of 6907 cases of prenatal screening were 288 cases with high risk and screening positive rate was 4.17%. A total of 253 pregnant women with high risk of chromosomal infection were diagnosed prenatal diagnosis by amniocentesis with informed consent. The diagnosis rate was 62.84% Abnormalities in 2 cases, including Down Syndrome in 1 case, 18-trisomy in 1 case. Follow-up was found in 29 cases of adverse pregnancy outcomes, including neonatal Down Syndrome in 1 case; 2 years and a half occurred in a total of 3 cases of false negative, false negative rate of 0.45 ‰. Conclusion Prenatal screening / prenatal diagnosis during the second trimester is an effective way to prevent birth defects and improve the quality of the birth population.