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目的对唐氏综合征(DS)及其他先天畸形进行产前筛查和诊断,以预测胎儿发育异常情况和降低出生缺陷。方法采用时间分辨荧光法检测孕妇血清甲胎蛋白、游离β-绒毛膜促性腺激素和游离雌三醇浓度联合孕周、体重、年龄等因素计算风险率。DS高风险的孕妇建议进行产前诊断,神经管缺损高风险或DS低风险孕妇进行超声监测。结果 13 741例孕妇中,DS高风险检出率为5.94%(816/13 741),其中35~45岁孕妇DS检出率(16.10%,38/236)高于15~35岁孕妇(5.76%,778/13 505)(P<0.01),神经管缺陷检出率为0.47%(65/13 741)。共427例高风险孕妇接受产前诊断,确诊DS7例,漏诊1例;经超声确诊神经管缺陷6例。结论产前筛查能预测胎儿发育,对筛查高风险孕妇应进行产前诊断、低风险孕妇联合超声筛查可有效地降低缺陷患儿的出生。
Objective To screen and diagnose Down Syndrome (DS) and other congenital malformations in order to predict fetal abnormalities and reduce birth defects. Methods The serum alpha-fetoprotein, free beta-chorionic gonadotropin and free estriol concentration in pregnant women were detected by time-resolved fluorescence method to calculate the risk ratio by gestational age, weight, age and other factors. High-risk pregnant women with DS recommend ultrasound for prenatal diagnosis, high risk of neural tube defects, or low-risk DS women. Results Among 13 741 pregnant women, the detection rate of DS was 5.94% (816/13 741). The detection rate of DS in 35-45 years old women (16.10%, 38/236) was higher than that of 15-35 years pregnant women (5.76 %, 778/13 505) (P <0.01). The detection rate of neural tube defects was 0.47% (65/13 741). A total of 427 high-risk pregnant women received prenatal diagnosis, diagnosis of DS7 cases, missed diagnosis in 1 case; ultrasound diagnosis of neural tube defects in 6 cases. Conclusion Prenatal screening can predict the development of fetus. Prenatal diagnosis should be performed on pregnant women with high risk of screening. Low-risk pregnant women combined with ultrasound screening can effectively reduce the birth of children with defects.