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目的:对绍兴地区妊娠中期妇女进行血清甲胎蛋白(AFP)、游离-β-绒毛膜促性腺激素(Free-β-HCG)检测,进行胎儿唐氏综合征、爱德华综合征、神经管缺损的产前筛查。方法:采用时间分辨免疫荧光分析法(DELFIA)检测孕15～20周孕妇血清AFP、Free-β-HCG浓度,结合母龄、孕周、体重等因素,经软件计算风险率,对高风险孕妇在知情的情况下,自愿选择进行羊膜腔穿刺、羊水细胞染色体核型分析或经腹脐静脉穿刺取胎儿血,进行染色体核型分析;对神经管缺损高风险孕妇均进行B超检查。结果:在37 165例孕妇中筛查出唐氏综合征高风险1 774例,占4.77%;爱德华综合征高风险145例,占0.39%;神经管缺损高风险200例,占0.54%。在1 774例唐氏综合征高风险和145例爱德华综合征高风险孕妇中,有1842例进行了羊水细胞染色体检查或胎儿脐血染色体检查,检测出染色体异常核型72例,异常率为3.91%,其中唐氏综合征12例,爱德华综合征11例,其他异常49例。在200例神经管缺陷高风险孕妇中,共检测出无脑儿和/或脊柱裂15例,异常检出率为7.5%。结论:检测孕妇血清AFP、Free-β-HCG对孕中期胎儿唐氏综合征和爱德华综合征及神经管缺损进行产前筛查,对降低出生缺陷具有一定意义。
Objective: To detect serum alpha-fetoprotein (AFP) and Free-beta-chorionic gonadotropin (Free-beta-HCG) in pregnant women in Shaoxing district for fetal Down’s syndrome, Edward’s syndrome, neural tube defects Prenatal screening. Methods: The serum levels of AFP and Free-β-HCG in pregnant women aged 15 to 20 weeks were detected by time-resolved immunofluorescence assay (DELFIA). The risks of pregnant women, gestational age, weight and other factors were calculated. In informed circumstances, the voluntary choice of amniocentesis, amniotic fluid cytoplasmic karyotype analysis or abdominal blood taken by fetal umbilical cord blood for chromosome karyotype analysis; high risk of neural tube defects in pregnant women were B-ultrasound. Results: A total of 3716 pregnant women were screened for high risk of Down syndrome, including 774 (4.77%), 145 (0.39%) with high risk of Edward’s syndrome, and 200 (0.54%) high risk of neural tube defects. Of 1,774 high-risk Down’s syndrome and 145 high-risk pregnant women with Edward’s syndrome, 1842 were examined by amniocentesis or fetal cord cytology, and 72 cases of chromosomal abnormalities were detected, with an abnormal rate of 3.91 %, Of which 12 cases of Down Syndrome, Edward’s syndrome in 11 cases, 49 cases of other abnormalities. Among 200 pregnant women with high risk of neural tube defects, 15 cases of anencephaly and / or spina bifida were detected, and the rate of anomaly detection was 7.5%. CONCLUSION: Prenatal screening of pregnant women with serum AFP and Free-β-HCG in the second trimester of fetal Down Syndrome and Edwards syndrome and neural tube defects is of some significance in reducing birth defects.