论文部分内容阅读
目的评价江苏省以人群为基础的中期妊娠母血清筛查胎儿染色体异常的效率。方法采用分层抽样和整群抽样相结合的多阶段抽样方法,在江苏省苏南、苏中、苏北地区以乡(镇)或街道为单位,抽取95个项目点,抽样时间为1年。项目点所有妊娠15～20周的妇女接受母血清甲胎蛋白(AFP)、人绒毛膜促性腺激素游离β亚单位(f-βHCG)检测,同时 B 超确定孕龄,在孕妇体重校正的基础上,计算胎儿染色体异常的风险值。对高风险者,在知情同意的基础上进行确诊检查。随访所有活产儿至出生后的0.5～4岁。结果 95个项目点1年中共有妊娠妇女27313名,参与产前筛查者26803例,占同期总妊娠妇女的98%。孕妇平均年龄25.1岁,≥35岁者占1.7%。母血清筛查为唐氏综合征高风险者1244例、爱德华综合征高风险者105例,筛查阳性率分别占筛查人群的5%、0.4%。最终妊娠结局显示染色体异常胎儿及婴幼儿共20例,其中唐氏综合征9例、爱德华综合征5例,其他染色体异常6例。本组中期妊娠母血清 AFP、f-β HCG 联合筛查唐氏综合征的检出率为56%(5/9),爱德华综合征检出率80%(4/5)。结论在严格质量控制的基础上,妊娠中期母血清AFP、f-βHCG 二联筛查胎儿染色体异常有较高的检出率,但良好的筛查成本效益比与目标出生缺陷的人群发病率有关。
Objective To evaluate the efficiency of population-based metaphase gestational maternal serum screening for fetal chromosomal abnormalities in Jiangsu Province. Methods A multistage sampling method combining stratified sampling and cluster sampling was used to collect 95 project sites in towns (towns) or streets in southern Jiangsu, southern Jiangsu and northern Jiangsu Province for a sampling period of 1 year . All women with gestational age of 15-20 weeks were enrolled in the study. AFP and f-βHCG were measured at the same time point of pregnancy, and the gestational age was determined by B ultrasound. The basis of weight correction in pregnant women On, calculate the risk of fetal chromosomal abnormalities. For those who are at risk, confirm the diagnosis on the basis of informed consent. All live births were followed up to 0.5 to 4 years after birth. Results A total of 27,313 pregnant women were enrolled in 95 project sites in one year. 26,803 prenatal screening were performed, accounting for 98% of the total pregnant women in the same period. The average age of pregnant women 25.1 years old, ≥ 35 years old accounted for 1.7%. Screening of maternal serum 1244 cases of Down’s syndrome high risk, Edwards syndrome high risk 105 cases, the screening positive rate of the screening population accounted for 5%, 0.4%. The final pregnancy outcome showed a total of 20 cases of fetal and infant chromosomal abnormalities, including 9 Down syndrome, Edward’s syndrome in 5 cases, 6 cases of other chromosomal abnormalities. This group of midterm gestational AFP, f-β HCG screening Down’s syndrome detection rate was 56% (5/9), Edward syndrome 80% (4/5). Conclusion On the basis of strict quality control, there is a high detection rate of fetal chromosomal abnormalities in the second trimester screening for maternal serum AFP and f-βHCG during pregnancy, but the good screening cost-benefit ratio is related to the incidence of target birth defects .