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目的:通过对孕中期唐氏综合征筛查结果进行分析,探讨其对降低新生儿出生缺陷的意义。方法:对5 823例孕15~21周孕妇用化学发光法进行血清生化标志物甲胎蛋白(AFP)、游离雌三醇(uE3)和绒毛膜促性腺激素(β-HCG)浓度测定,利用唐氏综合征专用风险评估软件,结合孕妇体重、年龄、孕周进行风险评估,计算胎儿患21-三体综合征(DS)、神经管缺陷(NTD)、18-三体综合征的风险度。对高风险孕妇在知情同意的情况下行羊水穿刺,进行染色体检查确诊,并追踪其产后情况。结果:筛查5 823例孕妇,共筛出高风险孕妇374例,其中241例行羊水穿刺染色体核型分析,彩超畸形筛查和定期随访确认,11例存在染色体异常(其中21三体6例,18三体2例,其他异常3例),5例神经管缺陷(无脑儿2例,开放性脊柱裂3例),其他畸形6例。所有确诊的畸形孕妇均实施了中期引产术终止妊娠。追踪随访参加筛查的孕妇至胎儿出生,1例高风险孕妇未做产前诊断足月分娩1例唐氏儿。结论:对孕中期孕妇进行唐氏综合征的产前筛查,有利于高风险胎儿的早期诊断和早期干预,降低新生儿的出生缺陷率。
Objective: To analyze the screening results of Down’s syndrome in the second trimester and discuss its significance to reduce the birth defects of newborns. Methods: The concentrations of serum biochemical markers AFP, uE3 and β-HCG in 5 823 pregnant women with gestational age from 15 to 21 weeks were determined by chemiluminescence method. Down syndrome risk assessment software, combined with the risk of pregnant women weight, age and gestational age to assess the risk of fetal trisomy 21 (DS), neural tube defects (NTD), 18 trisomy syndrome . Amniocentesis was performed with informed consent of high-risk pregnant women, confirmed by chromosomal examination, and followed-up of their postpartum status. Results: A total of 5 823 pregnant women were screened out and 374 pregnant women were screened out. Among them, 241 cases were diagnosed by amniocentesis, karyotype analysis and regular follow-up. Eleven cases had chromosomal abnormalities (including 21 trisomy in 6 cases , 18 trisomy in 2 cases, and 3 cases in other abnormalities), 5 cases of neural tube defects (2 cases without brain tumor, 3 cases of open spina bifida) and 6 cases of other deformities. All diagnosed deformities in pregnant women have implemented mid-term induction of labor termination of pregnancy. Follow-up screening pregnant women to fetus, 1 high-risk pregnant women did not do prenatal diagnosis of full-term childbirth in 1 child Down’s. Conclusion: Prenatal screening for Down’s syndrome in pregnant women during the second trimester is conducive to the early diagnosis and early intervention of high-risk fetus and to reduce the birth defect rate of neonates.