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目的了解杭州市余杭区孕中期产前筛查工作运行情况,探讨孕中期血清标志物的筛查对发现胎儿染色体异常和神经管畸形的意义。方法采用时间分辨荧光法(DELFIA)检测2006—2011年杭州市余杭区5所医院内知情同意并自愿参加的孕妇血清甲胎蛋白(Alpha-fetoproprotein,AFP)和游离β-人绒毛膜促性腺激素(Freeβhuman chorionic gonadotropin,Free-β-h CG)浓度,利用Risks 2T计算机分析软件对唐氏综合征(DS)、爱德华综合征(ES)和神经管缺陷(NTD)的风险度进行评估,对唐氏综合征、爱德华综合征高风险孕妇行羊水穿刺或脐血穿刺做染色体核型分析,对神经管缺陷高风险孕妇进行3D彩色多普勒超声检查。结果产前筛查率逐年上升;产前诊断绝对数逐年递增,羊水穿刺和脐带血穿刺人数的比例逐年下降,产前诊断率下降;在44 410例孕中期妇女中筛查出高风险1 945例,总阳性率4.38%(1 945/44 410),确诊21-三体综合征10例,18-三体综合征6例,神经管畸形(NTD)13例,其他胎儿异常39例。低风险孕妇中有4例21-三体综合征和9例NTD,未检出18-三体综合征。结论血清学产前筛查工作取得进展,免费产前筛查是提高产前筛查率的有效措施;孕中期推广应用二联产前筛查结合产前诊断是降低出生缺陷儿的有效途径。
Objective To understand the operation status of prenatal screening in the second trimester of Yuhang District, Hangzhou City, and to explore the significance of the detection of serum markers in the second trimester for the detection of fetal chromosomal abnormalities and neural tube defects. Methods The serum levels of alpha-fetoprotein (AFP) and free beta-human chorionic gonadotropin (Hpn) in pregnant women in five hospitals in Yuhang District of Hangzhou during 2006-2011 were determined by using time-resolved fluorometry (DELFIA) (Freeβhuman chorionic gonadotropin, Free-β-hCG) concentrations, using Risks 2T computer analysis software to evaluate the risk of Down Syndrome (DS), Edward’s syndrome (ES) and neural tube defects (NTD) ’S syndrome, Edwards syndrome high risk pregnant women with amniocentesis or umbilical cord puncture chromosome karyotype analysis of high risk of neural tube defects in pregnant women with 3D color Doppler ultrasound. Results The prenatal screening rate increased year by year. The absolute number of prenatal diagnosis increased year by year. The proportion of amniocentesis and umbilical cord blood puncture decreased year by year. The prenatal diagnosis rate decreased. A high risk of screening was found in 44 410 pregnant women The overall positive rate was 4.38% (1 945/44 410). Twenty-one patients with 21-trisomy syndrome, 6 patients with 18-trisomy syndrome, 13 patients with neural tube defects (NTD) and 39 other fetuses were diagnosed. There were 4 cases of 21-trisomy and 9 cases of NTD in low-risk pregnant women, and no trisomy 18 was detected. Conclusions Advances in serological prenatal screening have been achieved. Free prenatal screening is an effective measure to increase prenatal screening rates. The promotion of dual prenatal screening combined with prenatal diagnosis during the second trimester is an effective way to reduce birth defects.